Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1983 May;35(3):333–361.

The thalassemias: molecular mechanisms of human genetic disease.

R A Spritz, B G Forget
PMCID: PMC1685658  PMID: 6407302

Full text

PDF
335

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abu-Sin A., Felice A. E., Gravely M. E., Wilson J. B., Reese A. L., Miller H. L., Huisman T. H. Hb P-Nilotic in association with beta0-thalassemia: cis-mutation of a hemoglobin betaA chain regulatory determinant? J Lab Clin Med. 1979 Jun;93(6):973–982. [PubMed] [Google Scholar]
  2. Adams J. G., 3rd, Boxer L. A., Baehner R. L., Forget B. G., Tsistrakis G. A., Steinberg M. H. Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia. J Clin Invest. 1979 May;63(5):931–938. doi: 10.1172/JCI109393. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Adams J. G., 3rd, Steinberg M. H., Newman M. V., Morrison W. T., Benz E. J., Jr, Iyer R. beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0]. Proc Natl Acad Sci U S A. 1981 Jan;78(1):469–473. doi: 10.1073/pnas.78.1.469. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Alter B. P., Modell C. B., Fairweather D., Hobbins J. C., Mahoney M. J., Frigoletto F. D., Sherman A. S., Nathan D. G. Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. N Engl J Med. 1976 Dec 23;295(26):1437–1443. doi: 10.1056/NEJM197612232952601. [DOI] [PubMed] [Google Scholar]
  5. Antonarakis S. E., Boehm C. D., Giardina P. J., Kazazian H. H., Jr Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A. 1982 Jan;79(1):137–141. doi: 10.1073/pnas.79.1.137. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Baird M., Driscoll C., Schreiner H., Sciarratta G. V., Sansone G., Niazi G., Ramirez F., Bank A. A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia. Proc Natl Acad Sci U S A. 1981 Jul;78(7):4218–4221. doi: 10.1073/pnas.78.7.4218. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Baird M., Schreiner H., Driscoll C., Bank A. Localization of the site of recombination in formation of the Lepore Boston globin gene. J Clin Invest. 1981 Aug;68(2):560–564. doi: 10.1172/JCI110289. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Balsley J. F., Rappaport E., Schwartz E., Surrey S. The gamma-delta-beta-globin gene region in G gamma-beta +-hereditary persistence of fetal hemoglobin. Blood. 1982 Apr;59(4):828–831. [PubMed] [Google Scholar]
  9. Bank A., Mears J. G., Ramirez F., Burns A. L., Spence S., Feldenzer J., Baird M. The organization of the gamma-delta-beta gene complex in normal and thalassemia cells. Hemoglobin. 1980;4(3-4):497–507. doi: 10.3109/03630268008996230. [DOI] [PubMed] [Google Scholar]
  10. Baralle F. E., Shoulders C. C., Proudfoot N. J. The primary structure of the human epsilon-globin gene. Cell. 1980 Oct;21(3):621–626. doi: 10.1016/0092-8674(80)90425-0. [DOI] [PubMed] [Google Scholar]
  11. Belhani M., Morlé F., Colonna P., Godet J. Heterogeneity in beta 0 thalassemia from Algeria: genetic, clinical and molecular studies. Hum Genet. 1980;54(2):251–257. doi: 10.1007/BF00278980. [DOI] [PubMed] [Google Scholar]
  12. Benoist C., Chambon P. In vivo sequence requirements of the SV40 early promotor region. Nature. 1981 Mar 26;290(5804):304–310. doi: 10.1038/290304a0. [DOI] [PubMed] [Google Scholar]
  13. Benz E. J., Forget B. G., Hillman D. G., Cohen-Solal M., Pritchard J., Cavallesco C., Prensky W., Housman D. Variability in the amount of beta-globin mRNA in beta0 thalassemia. Cell. 1978 Jun;14(2):299–312. doi: 10.1016/0092-8674(78)90116-2. [DOI] [PubMed] [Google Scholar]
  14. Benz E. J., Jr, Berman B. W., Tonkonow B. L., Coupal E., Coates T., Boxer L. A., Altman A., Adams J. G., 3rd Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys). J Clin Invest. 1981 Jul;68(1):118–126. doi: 10.1172/JCI110226. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Benz E. J., Jr, Scarpa A. L., Tonkonow B. L., Pearson H. A., Ritchey A. K. Posttranscriptional defects in beta-globin messenger RNA metabolism in beta-thalassemia: abnormal accumulation of beta-messenger RNA precursor sequences. J Clin Invest. 1981 Dec;68(6):1529–1538. doi: 10.1172/JCI110407. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Bernards R., Flavell R. A. Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH). Nucleic Acids Res. 1980 Apr 11;8(7):1521–1534. doi: 10.1093/nar/8.7.1521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Bernards R., Kooter J. M., Flavell R. A. Physical mapping of the globin gene deletion in (delta beta (0)) -thalassaemia. Gene. 1979 Jul;6(3):265–280. doi: 10.1016/0378-1119(79)90062-3. [DOI] [PubMed] [Google Scholar]
  18. Beutler E., Turner E., Kuhl W. The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family. Blood. 1981 Jun;57(6):1132–1134. [PubMed] [Google Scholar]
  19. Bowden D. K., Pressley L., Higgs D. R., Clegg J. B., Weatherall D. J. alpha-globin gene deletions associated with Hb J Tongariki. Br J Haematol. 1982 Jun;51(2):243–249. [PubMed] [Google Scholar]
  20. Breathnach R., Benoist C., O'Hare K., Gannon F., Chambon P. Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries. Proc Natl Acad Sci U S A. 1978 Oct;75(10):4853–4857. doi: 10.1073/pnas.75.10.4853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Brittenham G., Lozoff B., Harris J. W., Bapat V., Gravely M., Huisman T. H. Thalassemia in southern India. Interaction of genes for beta+-, beta o-, and delta o beta o-thalassemia. Acta Haematol. 1980;63(1):44–48. doi: 10.1159/000207367. [DOI] [PubMed] [Google Scholar]
  22. Bunn H. F., Schmidt G. J., Haney D. N., Dluhy R. G. Hemoglobin Cranston, an unstable variant having an elongated beta chain due to nonhomologous crossover between two normal beta chain genes. Proc Natl Acad Sci U S A. 1975 Sep;72(9):3609–3613. doi: 10.1073/pnas.72.9.3609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Burns A. L., Spence S., Kosche K., Ramirez F., Mears J. G., Schreiner H., Miller C., Baird M., Leibowitz D., Giardina P. Isolation and characterization of cloned DNA: the delta and beta globin genes in homozygous beta + thalassemia. Blood. 1981 Jan;57(1):140–146. [PubMed] [Google Scholar]
  24. Busslinger M., Moschonas N., Flavell R. A. Beta + thalassemia: aberrant splicing results from a single point mutation in an intron. Cell. 1981 Dec;27(2 Pt 1):289–298. doi: 10.1016/0092-8674(81)90412-8. [DOI] [PubMed] [Google Scholar]
  25. CONLEY C. L., WEATHERALL D. J., RICHARDSON S. N., SHEPARD M. K., CHARACHE S. Hereditary persistence of fetal hemoglobin: a study of 79 affected persons in 15 Negro families in Baltimore. Blood. 1963 Mar;21:261–281. [PubMed] [Google Scholar]
  26. Catterall J. F., O'Malley B. W., Robertson M. A., Staden R., Tanaka Y., Brownlee G. G. Nucleotide sequence homology at 12 intron--exon junctions in the chick ovalbumin gene. Nature. 1978 Oct 12;275(5680):510–513. doi: 10.1038/275510a0. [DOI] [PubMed] [Google Scholar]
  27. Chang H., Hobbins J. C., Cividalli G., Frigoletto F. D., Mahoney M. J., Kan Y. W., Nathan D. G. In utero diagnosis of: hemoglobinopathies. Hemoglobin synthesis in fetal red cells. N Engl J Med. 1974 May 9;290(19):1067–1068. doi: 10.1056/NEJM197405092901909. [DOI] [PubMed] [Google Scholar]
  28. Chang J. C., Kan Y. W. A sensitive new prenatal test for sickle-cell anemia. N Engl J Med. 1982 Jul 1;307(1):30–32. doi: 10.1056/NEJM198207013070105. [DOI] [PubMed] [Google Scholar]
  29. Chang J. C., Kan Y. W. Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation. Lancet. 1981 Nov 21;2(8256):1127–1129. doi: 10.1016/s0140-6736(81)90584-5. [DOI] [PubMed] [Google Scholar]
  30. Chang J. C., Kan Y. W. beta 0 thalassemia, a nonsense mutation in man. Proc Natl Acad Sci U S A. 1979 Jun;76(6):2886–2889. doi: 10.1073/pnas.76.6.2886. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Chang J. C., Temple G. F., Trecartin R. F., Kan Y. W. Suppression of the nonsense mutation in homozygous beta 0 thalassaemia. Nature. 1979 Oct 18;281(5732):602–603. doi: 10.1038/281602a0. [DOI] [PubMed] [Google Scholar]
  32. Cividalli G. G., Antebi S., Klein R., Kerem H., Rachmilewitz E. A. Prenatal diagnosis of heterozygous beta-thalassemia. Isr J Med Sci. 1976 Nov;12(11):1313–1315. [PubMed] [Google Scholar]
  33. Clegg J. B., Weatherall D. J., Contopolou-Griva I., Caroutsos K., Poungouras P., Tsevrenis H. Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia. Nature. 1974 Sep 20;251(5472):245–247. doi: 10.1038/251245a0. [DOI] [PubMed] [Google Scholar]
  34. Clegg J. B., Weatherall D. J., Milner P. F. Haemoglobin Constant Spring--a chain termination mutant? Nature. 1971 Dec 10;234(5328):337–340. doi: 10.1038/234337a0. [DOI] [PubMed] [Google Scholar]
  35. Comi P., Giglioni B., Barbarano L., Ottolenghi S., Williamson R., Novakova M., Masera G. Transcriptional and post-transcriptional defects in beta0-thalassaemia. Eur J Biochem. 1977 Oct 3;79(2):617–622. doi: 10.1111/j.1432-1033.1977.tb11846.x. [DOI] [PubMed] [Google Scholar]
  36. Craik C. S., Buchman S. R., Beychok S. Characterization of globin domains: heme binding to the central exon product. Proc Natl Acad Sci U S A. 1980 Mar;77(3):1384–1388. doi: 10.1073/pnas.77.3.1384. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Craik C. S., Buchman S. R., Beychok S. O2 binding properties of the product of the central exon of beta-globin gene. Nature. 1981 May 7;291(5810):87–90. doi: 10.1038/291087a0. [DOI] [PubMed] [Google Scholar]
  38. Davis J. R., Jr, Dozy A. M., Lubin B., Koenig H. M., Pierce H. I., Stamatoyannopoulos G., Kan Y. W. Alpha-thalassemia in blacks is due to gene deletion. Am J Hum Genet. 1979 Sep;31(5):569–573. [PMC free article] [PubMed] [Google Scholar]
  39. De Jong W. W., Meera Khan P., Bernini L. F. Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet. 1975 Jan;27(1):81–90. [PMC free article] [PubMed] [Google Scholar]
  40. Deisseroth A., Nienhuis A., Turner P., Velez R., Anderson W. F., Ruddle F., Lawrence J., Creagan R., Kucherlapati R. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay. Cell. 1977 Sep;12(1):205–218. doi: 10.1016/0092-8674(77)90198-2. [DOI] [PubMed] [Google Scholar]
  41. Del Senno L., Conconi F., Little P. F., Williamson R. Restriction enzyme analysis of the beta-globin gene in DNA from beta 0-thalassaemic subjects from Ferrara. Biochem Biophys Res Commun. 1979 Nov 28;91(2):548–553. doi: 10.1016/0006-291x(79)91557-2. [DOI] [PubMed] [Google Scholar]
  42. Di Segni G., Kerem H., Cividalli G., Rachmilewitz E. A., Kaempfer R. Absence of functional beta-globin messenger RNA in Kurdish Jews with beta0-thalassemia. Isr J Med Sci. 1978 Nov;14(11):1116–1123. [PubMed] [Google Scholar]
  43. Dover G. J., Boyer S. H., Pembrey M. E. F-cell production in sickle cell anemia: regulation by genes linked to beta-hemoglobin locus. Science. 1981 Mar 27;211(4489):1441–1444. doi: 10.1126/science.6162200. [DOI] [PubMed] [Google Scholar]
  44. Dozy A. M., Forman E. N., Abuelo D. N., Barsel-Bowers G., Mahoney M. J., Forget B. G., Kan Y. W. Prenatal diagnosis of homozygous alpha-thalassemia. JAMA. 1979 Apr 13;241(15):1610–1612. [PubMed] [Google Scholar]
  45. Dozy A. M., Kan Y. W., Embury S. H., Mentzer W. C., Wang W. C., Lubin B., Davis J. R., Jr, Koenig H. M. alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature. 1979 Aug 16;280(5723):605–607. doi: 10.1038/280605a0. [DOI] [PubMed] [Google Scholar]
  46. Duncan C., Biro P. A., Choudary P. V., Elder J. T., Wang R. R., Forget B. G., de Riel J. K., Weissman S. M. RNA polymerase III transcriptional units are interspersed among human non-alpha-globin genes. Proc Natl Acad Sci U S A. 1979 Oct;76(10):5095–5099. doi: 10.1073/pnas.76.10.5095. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Eaton W. A. The relationship between coding sequences and function in haemoglobin. Nature. 1980 Mar 13;284(5752):183–185. doi: 10.1038/284183a0. [DOI] [PubMed] [Google Scholar]
  48. Efstratiadis A., Posakony J. W., Maniatis T., Lawn R. M., O'Connell C., Spritz R. A., DeRiel J. K., Forget B. G., Weissman S. M., Slightom J. L. The structure and evolution of the human beta-globin gene family. Cell. 1980 Oct;21(3):653–668. doi: 10.1016/0092-8674(80)90429-8. [DOI] [PubMed] [Google Scholar]
  49. Embury S. H., Lebo R. V., Dozy A. M., Kan Y. W. Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes. J Clin Invest. 1979 Jun;63(6):1307–1310. doi: 10.1172/JCI109426. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Embury S. H., Miller J. A., Dozy A. M., Kan Y. W., Chan V., Todd D. Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest. 1980 Dec;66(6):1319–1325. doi: 10.1172/JCI109984. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. Engels W. R. Estimating genetic divergence and genetic variability with restriction endonucleases. Proc Natl Acad Sci U S A. 1981 Oct;78(10):6329–6333. doi: 10.1073/pnas.78.10.6329. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Ewens W. J., Spielman R. S., Harris H. Estimation of genetic variation at the DNA level from restriction endonuclease data. Proc Natl Acad Sci U S A. 1981 Jun;78(6):3748–3750. doi: 10.1073/pnas.78.6.3748. [DOI] [PMC free article] [PubMed] [Google Scholar]
  53. FESSAS P., STAMATOYANNOPOULOS G. Absence of haemoglobin A2 in an adult. Nature. 1962 Sep 22;195:1215–1216. doi: 10.1038/1951215a0. [DOI] [PubMed] [Google Scholar]
  54. Fairweather D. V., Modell B., Berdoukas V., Alter B. P., Nathan D. G., Loukopoulos D., Wood W., Clegg J. B., Weatherall D. J. Antenatal diagnosis of thalassaemia major. Br Med J. 1978 Feb 11;1(6109):350–353. doi: 10.1136/bmj.1.6109.350. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Felber B. K., Orkin S. H., Hamer D. H. Abnormal RNA splicing causes one form of alpha thalassemia. Cell. 1982 Jul;29(3):895–902. doi: 10.1016/0092-8674(82)90451-2. [DOI] [PubMed] [Google Scholar]
  56. Feldenzer J., Mears J. G., Burns A. L., Natta C., Bank A. Heterogeneity of DNA fragments associated with the sickle-globin gene. J Clin Invest. 1979 Sep;64(3):751–755. doi: 10.1172/JCI109519. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Fitch W. M. A comparison between evolutionary substitutions and variants in human hemoglobins. Ann N Y Acad Sci. 1974 Nov 29;241(0):439–448. doi: 10.1111/j.1749-6632.1974.tb21900.x. [DOI] [PubMed] [Google Scholar]
  58. Flatz G. Hemoglobin E: distribution and population dynamics. Humangenetik. 1967;3(3):189–234. doi: 10.1007/BF00273124. [DOI] [PubMed] [Google Scholar]
  59. Flatz G., Kinderlerer J. L., Kilmartin J. V., Lehmann H. Haemoglobin Tak: a variant with additional residues at the end of the beta-chains. Lancet. 1971 Apr 10;1(7702):732–733. doi: 10.1016/s0140-6736(71)91994-5. [DOI] [PubMed] [Google Scholar]
  60. Flavell R. A., Bernards R., Kooter J. M., de Boer E., Little P. F., Annison G., Williamson R. The structure of the human beta-globin gene in beta-thalassaemia. Nucleic Acids Res. 1979 Jun 25;6(8):2749–2760. doi: 10.1093/nar/6.8.2749. [DOI] [PMC free article] [PubMed] [Google Scholar]
  61. Flavell R. A., Kooter J. M., De Boer E., Little P. F., Williamson R. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell. 1978 Sep;15(1):25–41. doi: 10.1016/0092-8674(78)90080-6. [DOI] [PubMed] [Google Scholar]
  62. Forget B. G., Benz E. J., Jr, Skoultchi A., Baglioni C., Housman D. Absence of messenger RNA for beta globin chain in beta(0) thalassaemia. Nature. 1974 Feb 8;247(5440):379–381. doi: 10.1038/247379a0. [DOI] [PubMed] [Google Scholar]
  63. Forget B. G., Hillman D. G., Lazarus H., Barell E. F., Benz ej J. R., Caskey C. T., Huisman T. H., Schroeder W. A., Housman D. Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin. Cell. 1976 Mar;7(3):323–329. doi: 10.1016/0092-8674(76)90161-6. [DOI] [PubMed] [Google Scholar]
  64. Forget B. G., Marotta C. A., Weissman S. M., Cohen-Solal M. Nucleotide sequences of the 3'-terminal untranslated region of messenger RNA for human beta globin chain. Proc Natl Acad Sci U S A. 1975 Sep;72(9):3614–3618. doi: 10.1073/pnas.72.9.3614. [DOI] [PMC free article] [PubMed] [Google Scholar]
  65. Friedman S., Schwartz E. Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family. Nature. 1976 Jan 15;259(5539):138–140. doi: 10.1038/259138a0. [DOI] [PubMed] [Google Scholar]
  66. Fritsch E. F., Lawn R. M., Maniatis T. Characterisation of deletions which affect the expression of fetal globin genes in man. Nature. 1979 Jun 14;279(5714):598–603. doi: 10.1038/279598a0. [DOI] [PubMed] [Google Scholar]
  67. Fritsch E. F., Lawn R. M., Maniatis T. Molecular cloning and characterization of the human beta-like globin gene cluster. Cell. 1980 Apr;19(4):959–972. doi: 10.1016/0092-8674(80)90087-2. [DOI] [PubMed] [Google Scholar]
  68. Fukumaki Y., Ghosh P. K., Benz E. J., Jr, Reddy V. B., Lebowitz P., Forget B. G., Weissman S. M. Abnormally spliced messenger RNA in erythroid cells from patients with beta+ thalassemia and monkey cells expressing a cloned beta+-thalassemic gene. Cell. 1982 Mar;28(3):585–593. doi: 10.1016/0092-8674(82)90213-6. [DOI] [PubMed] [Google Scholar]
  69. Földi J., Cohen-Solal M., Valentin C., Blouquit Y., Hollán S. R., Rosa J. The human alpha-globin gene. The protein products of the duplicated genes are identical. Eur J Biochem. 1980 Aug;109(2):463–470. doi: 10.1111/j.1432-1033.1980.tb04816.x. [DOI] [PubMed] [Google Scholar]
  70. Geever R. F., Wilson L. B., Nallaseth F. S., Milner P. F., Bittner M., Wilson J. T. Direct identification of sickle cell anemia by blot hybridization. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5081–5085. doi: 10.1073/pnas.78.8.5081. [DOI] [PMC free article] [PubMed] [Google Scholar]
  71. Gilbert W. Why genes in pieces? Nature. 1978 Feb 9;271(5645):501–501. doi: 10.1038/271501a0. [DOI] [PubMed] [Google Scholar]
  72. Gill F., Atwater J., Schwartz E. Hemoglobin Lepore trait: globin synthesis in bone marrow and peripheral blood. Science. 1972 Nov 10;178(4061):623–625. doi: 10.1126/science.178.4061.623. [DOI] [PubMed] [Google Scholar]
  73. Go M. Correlation of DNA exonic regions with protein structural units in haemoglobin. Nature. 1981 May 7;291(5810):90–92. doi: 10.1038/291090a0. [DOI] [PubMed] [Google Scholar]
  74. Goossens M., Dozy A. M., Embury S. H., Zachariades Z., Hadjiminas M. G., Stamatoyannopoulos G., Kan Y. W. Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A. 1980 Jan;77(1):518–521. doi: 10.1073/pnas.77.1.518. [DOI] [PMC free article] [PubMed] [Google Scholar]
  75. Goossens M., Lee K. Y., Liebhaber S. A., Kan Y. W. Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia. Nature. 1982 Apr 29;296(5860):864–865. doi: 10.1038/296864a0. [DOI] [PubMed] [Google Scholar]
  76. Gorski J., Fiori M., Mach B. A new nonsense mutation as the molecular basis for beta thalassaemia. J Mol Biol. 1982 Jan 25;154(3):537–540. doi: 10.1016/s0022-2836(82)80012-0. [DOI] [PubMed] [Google Scholar]
  77. Grosveld G. C., de Boer E., Shewmaker C. K., Flavell R. A. DNA sequences necessary for transcription of the rabbit beta-globin gene in vivo. Nature. 1982 Jan 14;295(5845):120–126. doi: 10.1038/295120a0. [DOI] [PubMed] [Google Scholar]
  78. Gusella J., Varsanyi-Breiner A., Kao F. T., Jones C., Puck T. T., Keys C., Orkin S., Housman D. Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci U S A. 1979 Oct;76(10):5239–5242. doi: 10.1073/pnas.76.10.5239. [DOI] [PMC free article] [PubMed] [Google Scholar]
  79. Hagenbüchle O., Santer M., Steitz J. A., Mans R. J. Conservation of the primary structure at the 3' end of 18S rRNA from eucaryotic cells. Cell. 1978 Mar;13(3):551–563. doi: 10.1016/0092-8674(78)90328-8. [DOI] [PubMed] [Google Scholar]
  80. Harper M. E., Ullrich A., Saunders G. F. Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci U S A. 1981 Jul;78(7):4458–4460. doi: 10.1073/pnas.78.7.4458. [DOI] [PMC free article] [PubMed] [Google Scholar]
  81. Higgs D. R., Clegg J. B., Wood W. G., Weatherall D. J. G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C. J Med Genet. 1979 Aug;16(4):288–295. doi: 10.1136/jmg.16.4.288. [DOI] [PMC free article] [PubMed] [Google Scholar]
  82. Higgs D. R., Hunt D. M., Drysdale H. C., Clegg J. B., Pressley L., Weatherall D. J. The genetic basis of Hb Q-H disease. Br J Haematol. 1980 Nov;46(3):387–400. doi: 10.1111/j.1365-2141.1980.tb05985.x. [DOI] [PubMed] [Google Scholar]
  83. Higgs D. R., Old J. M., Pressley L., Clegg J. B., Weatherall D. J. A novel alpha-globin gene arrangement in man. Nature. 1980 Apr 17;284(5757):632–635. doi: 10.1038/284632a0. [DOI] [PubMed] [Google Scholar]
  84. Higgs D. R., Pressley L., Aldridge B., Clegg J. B., Weatherall D. J., Cao A., Hadjiminas M. G., Kattamis C., Metaxatou-Mavromati A., Rachmilewitz E. A. Genetic and molecular diversity in nondeletion Hb H disease. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5833–5837. doi: 10.1073/pnas.78.9.5833. [DOI] [PMC free article] [PubMed] [Google Scholar]
  85. Higgs D. R., Pressley L., Clegg J. B., Weatherall D. J., Serjeant G. R. alpha thalassemia in black populations. Johns Hopkins Med J. 1980 Jun;146(6):300–310. [PubMed] [Google Scholar]
  86. Higgs D. R., Pressley L., Old J. M., Hunt D. M., Clegg J. B., Weatherall D. J., Serjeant G. R. Negro alpha-thalassaemia is caused by deletion of a single alpha-globin gene. Lancet. 1979 Aug 11;2(8137):272–276. doi: 10.1016/s0140-6736(79)90290-3. [DOI] [PubMed] [Google Scholar]
  87. Hobbins J. C., Mahoney M. J. Fetal blood drawing. Lancet. 1975 Jul 19;2(7925):107–109. doi: 10.1016/s0140-6736(75)90007-0. [DOI] [PubMed] [Google Scholar]
  88. Hobbins J. C., Mahoney M. J. In utero diagnosis of hemoglobinopathies. Technic for obtaining fetal blood. N Engl J Med. 1974 May 9;290(19):1065–1067. doi: 10.1056/NEJM197405092901908. [DOI] [PubMed] [Google Scholar]
  89. Honig G. R., Shamsuddin M., Mason R. G., Vida L. N. Hemoglobin Lincoln Park: a betadelta fusion (anti-Lepore) variant with an amino acid deletion in the delta chain-derived segment. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1475–1479. doi: 10.1073/pnas.75.3.1475. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Honig G. R., Shamsuddin M., Zaizov R., Steinherz M., Solar I., Kirschmann C. Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression. Blood. 1981 Apr;57(4):705–711. [PubMed] [Google Scholar]
  91. Houck C. M., Rinehart F. P., Schmid C. W. A ubiquitous family of repeated DNA sequences in the human genome. J Mol Biol. 1979 Aug 15;132(3):289–306. doi: 10.1016/0022-2836(79)90261-4. [DOI] [PubMed] [Google Scholar]
  92. Housman D., Forget B. G., Skoultchi A., Benz E. J., Jr Quantitative deficiency of chain-specific globin messenger ribonucleic acids in the thalassemia syndromes. Proc Natl Acad Sci U S A. 1973 Jun;70(6):1809–1813. doi: 10.1073/pnas.70.6.1809. [DOI] [PMC free article] [PubMed] [Google Scholar]
  93. Huisman T. H., Altay C. The chemical heterogeneity of the fetal hemoglobin of black newborn babies and adults: a reevaluation. Blood. 1981 Sep;58(3):491–500. [PubMed] [Google Scholar]
  94. Huisman T. H., Miller A. Hb Grady and alpha thalassemia: a contribution to the problem of the number of Hb alpha structural loci in man. Am J Hum Genet. 1976 Jul;28(4):363–369. [PMC free article] [PubMed] [Google Scholar]
  95. Huisman T. H., Miller A., Schroeder W. A. A G gamma type of the hereditary persistence of fetal hemoglobin with beta chain production in cis. Am J Hum Genet. 1975 Nov;27(6):765–777. [PMC free article] [PubMed] [Google Scholar]
  96. Huisman T. H., Schroeder W. A., Efremov G. D., Duma H., Mladenovski B., Hyman C. B., Rachmilewitz E. A., Bouver N., Miller A., Brodie A. The present status of the heterogeneity of fetal hemoglobin in beta-thalassemia: an attempt to unify some observations in thalassemia and related conditions. Ann N Y Acad Sci. 1974;232(0):107–124. doi: 10.1111/j.1749-6632.1974.tb20576.x. [DOI] [PubMed] [Google Scholar]
  97. Huisman T. H., Schroeder W. A., Felice A., Powars D., Ringelhann B. Anomaly in the gamma chain heterogeneity of the newborn. Nature. 1977 Jan 6;265(5589):63–65. doi: 10.1038/265063a0. [DOI] [PubMed] [Google Scholar]
  98. Huisman T. H., Wilson J. B., Gravely M., Hubbard M. Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues. Proc Natl Acad Sci U S A. 1974 Aug;71(8):3270–3273. doi: 10.1073/pnas.71.8.3270. [DOI] [PMC free article] [PubMed] [Google Scholar]
  99. Huisman T. H., Wrightstone R. N., Wilson J. B., Schroeder W. A., Kendall A. G. Hemoglobin Kenya, the product of fusion of amd polypeptide chains. Arch Biochem Biophys. 1972 Dec;153(2):850–853. doi: 10.1016/0003-9861(72)90408-0. [DOI] [PubMed] [Google Scholar]
  100. Hyldig-Nielsen J. J., Jensen E. O., Paludan K., Wiborg O., Garrett R., Jørgensen P., Marcker K. A. The primary structures of two leghemoglobin genes from soybean. Nucleic Acids Res. 1982 Jan 22;10(2):689–701. doi: 10.1093/nar/10.2.689. [DOI] [PMC free article] [PubMed] [Google Scholar]
  101. Jagadeeswaran P., Tuan D., Forget B. G., Weissman S. M. A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin. Nature. 1982 Apr 1;296(5856):469–470. doi: 10.1038/296469a0. [DOI] [PubMed] [Google Scholar]
  102. Jeffreys A. J., Barrie P. A., Harris S., Fawcett D. H., Nugent Z. J., Boyd A. C. Isolation and sequence analysis of a hybrid delta-globin pseudogene from the brown lemur. J Mol Biol. 1982 Apr 15;156(3):487–503. doi: 10.1016/0022-2836(82)90262-5. [DOI] [PubMed] [Google Scholar]
  103. Jeffreys A. J., Craig I. W., Francke U. Localisation of the G gamma-, A gamma-, delta- and beta-globin genes on the short arm of human chromosome 11. Nature. 1979 Oct 18;281(5732):606–608. doi: 10.1038/281606a0. [DOI] [PubMed] [Google Scholar]
  104. Jeffreys A. J. DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man. Cell. 1979 Sep;18(1):1–10. doi: 10.1016/0092-8674(79)90348-9. [DOI] [PubMed] [Google Scholar]
  105. Jelinek W. R., Toomey T. P., Leinwand L., Duncan C. H., Biro P. A., Choudary P. V., Weissman S. M., Rubin C. M., Houck C. M., Deininger P. L. Ubiquitous, interspersed repeated sequences in mammalian genomes. Proc Natl Acad Sci U S A. 1980 Mar;77(3):1398–1402. doi: 10.1073/pnas.77.3.1398. [DOI] [PMC free article] [PubMed] [Google Scholar]
  106. Jensen M., Zahn V., Orend K. H. Prenatal diagnosis of beta-thalassemia using selective hemolysis of maternal cells contaminating fetal blood sample. Eur J Pediatr. 1978 Mar 13;127(3):197–204. doi: 10.1007/BF00442061. [DOI] [PubMed] [Google Scholar]
  107. Jones R. W., Old J. M., Trent R. J., Clegg J. B., Weatherall D. J. Major rearrangement in the human beta-globin gene cluster. Nature. 1981 May 7;291(5810):39–44. doi: 10.1038/291039a0. [DOI] [PubMed] [Google Scholar]
  108. Jones R. W., Old J. M., Trent R. J., Clegg J. B., Weatherall D. J. Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia. Nucleic Acids Res. 1981 Dec 21;9(24):6813–6825. doi: 10.1093/nar/9.24.6813. [DOI] [PMC free article] [PubMed] [Google Scholar]
  109. Jones R. W., Old J. M., Wood W. G., Clegg J. B., Weatherall D. J. Restriction endonuclease maps of the beta-like globin gene cluster in the British and Greek forms of HPFH, and for one example of G gamma beta + HPFH. Br J Haematol. 1982 Mar;50(3):415–422. doi: 10.1111/j.1365-2141.1982.tb01936.x. [DOI] [PubMed] [Google Scholar]
  110. Jung A., Sippel A. E., Grez M., Schütz G. Exons encode functional and structural units of chicken lysozyme. Proc Natl Acad Sci U S A. 1980 Oct;77(10):5759–5763. doi: 10.1073/pnas.77.10.5759. [DOI] [PMC free article] [PubMed] [Google Scholar]
  111. Kacian D. L., Gambino R., Dow L. W., Grossbard E., Natta C., Ramirez F., Spiegelman S., Marks P. A., Bank A. Decreased globin messenger RNA in thalassemia detected by molecular hybridization. Proc Natl Acad Sci U S A. 1973 Jun;70(6):1886–1890. doi: 10.1073/pnas.70.6.1886. [DOI] [PMC free article] [PubMed] [Google Scholar]
  112. Kan Y. W., Dozy A. M. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet. 1978 Oct 28;2(8096):910–912. doi: 10.1016/s0140-6736(78)91629-x. [DOI] [PubMed] [Google Scholar]
  113. Kan Y. W., Dozy A. M. Evolution of the hemoglobin S and C genes in world populations. Science. 1980 Jul 18;209(4454):388–391. doi: 10.1126/science.7384810. [DOI] [PubMed] [Google Scholar]
  114. Kan Y. W., Dozy A. M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631–5635. doi: 10.1073/pnas.75.11.5631. [DOI] [PMC free article] [PubMed] [Google Scholar]
  115. Kan Y. W., Dozy A. M., Stamatoyannopoulos G., Hadjiminas M. G., Zachariades Z., Furbetta M., Cao A. Molecular basis of hemoglobin-H disease in the Mediterranean population. Blood. 1979 Dec;54(6):1434–1438. [PubMed] [Google Scholar]
  116. Kan Y. W., Dozy A. M., Trecartin R., Todd D. Identification of a nondeletion defect in alpha-thalassemia. N Engl J Med. 1977 Nov 17;297(20):1081–1084. doi: 10.1056/NEJM197711172972002. [DOI] [PubMed] [Google Scholar]
  117. Kan Y. W., Dozy A. M., Varmus H. E., Taylor J. M., Holland J. P., Lie-Injo L. E., Ganesan J., Todd D. Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci. Nature. 1975 May 15;255(5505):255–256. doi: 10.1038/255255a0. [DOI] [PubMed] [Google Scholar]
  118. Kan Y. W., Golbus M. S., Dozy A. M. Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization. N Engl J Med. 1976 Nov 18;295(21):1165–1167. doi: 10.1056/NEJM197611182952104. [DOI] [PubMed] [Google Scholar]
  119. Kan Y. W., Golbus M. S., Klein P., Dozy A. M. Successful application of prenatal diagnosis in a pregnancy at risk for homozygous beta-thalassemia. N Engl J Med. 1975 May 22;292(21):1096–1099. doi: 10.1056/NEJM197505222922104. [DOI] [PubMed] [Google Scholar]
  120. Kan Y. W., Holland J. P., Dozy A. M., Charache S., Kazazian H. H. Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature. 1975 Nov 13;258(5531):162–163. doi: 10.1038/258162a0. [DOI] [PubMed] [Google Scholar]
  121. Kan Y. W., Holland J. P., Dozy A. M., Varmus H. E. Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia. Proc Natl Acad Sci U S A. 1975 Dec;72(12):5140–5144. doi: 10.1073/pnas.72.12.5140. [DOI] [PMC free article] [PubMed] [Google Scholar]
  122. Kan Y. W., Lee K. Y., Furbetta M., Angius A., Cao A. Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. N Engl J Med. 1980 Jan 24;302(4):185–188. doi: 10.1056/NEJM198001243020401. [DOI] [PubMed] [Google Scholar]
  123. Kan Y. W., Todd D., Dozy A. M. Haemoglobin Constant Spring synthesis in red cell precursors. Br J Haematol. 1974 Sep;28(1):103–107. doi: 10.1111/j.1365-2141.1974.tb06643.x. [DOI] [PubMed] [Google Scholar]
  124. Kan Y. W., Trecartin R. F., Golbus M. S., Filly R. A. Prenatal diagnosis of beta-thalassaemia and sickle-cell anaemia. Experience with 24 cases. Lancet. 1977 Feb 5;1(8006):269–271. doi: 10.1016/s0140-6736(77)91821-9. [DOI] [PubMed] [Google Scholar]
  125. Kantor J. A., Turner P. H., Nienhuis A. W. Beta Thalassemia: mutations which affect processing of the beta-Globin mRNA precursor. Cell. 1980 Aug;21(1):149–157. doi: 10.1016/0092-8674(80)90122-1. [DOI] [PubMed] [Google Scholar]
  126. Kazazian H. H., Jr, Phillips J. A., 3rd, Boehm C. D., Vik T. A., Mahoney M. J., Ritchey A. K. Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood. 1980 Nov;56(5):926–930. [PubMed] [Google Scholar]
  127. Kinniburgh A. J., Maquat L. E., Schedl T., Rachmilewitz E., Ross J. mRNA-deficient beta o-thalassemia results from a single nucleotide deletion. Nucleic Acids Res. 1982 Sep 25;10(18):5421–5427. doi: 10.1093/nar/10.18.5421. [DOI] [PMC free article] [PubMed] [Google Scholar]
  128. Lauer J., Shen C. K., Maniatis T. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions. Cell. 1980 May;20(1):119–130. doi: 10.1016/0092-8674(80)90240-8. [DOI] [PubMed] [Google Scholar]
  129. Lawn R. M., Efstratiadis A., O'Connell C., Maniatis T. The nucleotide sequence of the human beta-globin gene. Cell. 1980 Oct;21(3):647–651. doi: 10.1016/0092-8674(80)90428-6. [DOI] [PubMed] [Google Scholar]
  130. Lawn R. M., Fritsch E. F., Parker R. C., Blake G., Maniatis T. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Cell. 1978 Dec;15(4):1157–1174. doi: 10.1016/0092-8674(78)90043-0. [DOI] [PubMed] [Google Scholar]
  131. Lebo R. V., Carrano A. V., Burkhart-Schultz K., Dozy A. M., Yu L. C., Kan Y. W. Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis. Proc Natl Acad Sci U S A. 1979 Nov;76(11):5804–5808. doi: 10.1073/pnas.76.11.5804. [DOI] [PMC free article] [PubMed] [Google Scholar]
  132. Lewin B. Alternatives for splicing: recognizing the ends of introns. Cell. 1980 Nov;22(2 Pt 2):324–326. doi: 10.1016/0092-8674(80)90340-2. [DOI] [PubMed] [Google Scholar]
  133. Ley T. J., Anagnou N. P., Pepe G., Nienhuis A. W. RNA processing errors in patients with beta-thalassemia. Proc Natl Acad Sci U S A. 1982 Aug;79(15):4775–4779. doi: 10.1073/pnas.79.15.4775. [DOI] [PMC free article] [PubMed] [Google Scholar]
  134. Lie-Injo L. E., Dozy A. M., Kan Y. W., Lopes M., Todd D. The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia. Blood. 1979 Dec;54(6):1407–1416. [PubMed] [Google Scholar]
  135. Lie-Injo L. E., Herrera A. R., Kan Y. W. Two types of triplicated alpha-globin loci in humans. Nucleic Acids Res. 1981 Aug 11;9(15):3707–3717. doi: 10.1093/nar/9.15.3707. [DOI] [PMC free article] [PubMed] [Google Scholar]
  136. Liebhaber S. A., Goossens M. J., Kan Y. W. Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. Proc Natl Acad Sci U S A. 1980 Dec;77(12):7054–7058. doi: 10.1073/pnas.77.12.7054. [DOI] [PMC free article] [PubMed] [Google Scholar]
  137. Liebhaber S. A., Goossens M., Kan Y. W. Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature. 1981 Mar 5;290(5801):26–29. doi: 10.1038/290026a0. [DOI] [PubMed] [Google Scholar]
  138. Liebhaber S. A., Kan Y. W. Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics. J Clin Invest. 1981 Aug;68(2):439–446. doi: 10.1172/JCI110273. [DOI] [PMC free article] [PubMed] [Google Scholar]
  139. Little P. F., Annison G., Darling S., Williamson R., Camba L., Modell B. Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms. Nature. 1980 May 15;285(5761):144–147. doi: 10.1038/285144a0. [DOI] [PubMed] [Google Scholar]
  140. Maquat L. E., Kinniburgh A. J., Beach L. R., Honig G. R., Lazerson J., Ershler W. B., Ross J. Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia. Proc Natl Acad Sci U S A. 1980 Jul;77(7):4287–4291. doi: 10.1073/pnas.77.7.4287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  141. Maquat L. E., Kinniburgh A. J., Rachmilewitz E. A., Ross J. Unstable beta-globin mRNA in mRNA-deficient beta o thalassemia. Cell. 1981 Dec;27(3 Pt 2):543–553. doi: 10.1016/0092-8674(81)90396-2. [DOI] [PubMed] [Google Scholar]
  142. Martinell J., Whitney J. B., 3rd, Popp R. A., Russell L. B., Anderson W. F. Three mouse models of human thalassemia. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5056–5060. doi: 10.1073/pnas.78.8.5056. [DOI] [PMC free article] [PubMed] [Google Scholar]
  143. McKnight S. L., Gavis E. R., Kingsbury R., Axel R. Analysis of transcriptional regulatory signals of the HSV thymidine kinase gene: identification of an upstream control region. Cell. 1981 Aug;25(2):385–398. doi: 10.1016/0092-8674(81)90057-x. [DOI] [PubMed] [Google Scholar]
  144. Mears J. G., Ramirez F., Leibowitz D., Nakamura F., Bloom A., Konotey-Ahulu F., Bank A. Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1222–1226. doi: 10.1073/pnas.75.3.1222. [DOI] [PMC free article] [PubMed] [Google Scholar]
  145. Mellon P., Parker V., Gluzman Y., Maniatis T. Identification of DNA sequences required for transcription of the human alpha 1-globin gene in a new SV40 host-vector system. Cell. 1981 Dec;27(2 Pt 1):279–288. doi: 10.1016/0092-8674(81)90411-6. [DOI] [PubMed] [Google Scholar]
  146. Michelson A. M., Orkin S. H. The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent. Cell. 1980 Nov;22(2 Pt 2):371–377. doi: 10.1016/0092-8674(80)90347-5. [DOI] [PubMed] [Google Scholar]
  147. Milner P. F., Clegg J. B., Weatherall D. J. Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain. Lancet. 1971 Apr 10;1(7702):729–732. doi: 10.1016/s0140-6736(71)91992-1. [DOI] [PubMed] [Google Scholar]
  148. Moschonas N., de Boer E., Grosveld F. G., Dahl H. H., Wright S., Shewmaker C. K., Flavell R. A. Structure and expression of a cloned beta o thalassaemic globin gene. Nucleic Acids Res. 1981 Sep 11;9(17):4391–4401. doi: 10.1093/nar/9.17.4391. [DOI] [PMC free article] [PubMed] [Google Scholar]
  149. Mount S. M. A catalogue of splice junction sequences. Nucleic Acids Res. 1982 Jan 22;10(2):459–472. doi: 10.1093/nar/10.2.459. [DOI] [PMC free article] [PubMed] [Google Scholar]
  150. Nienhuis A. W., Turner P., Benz E. J., Jr Relative stability of alpha- and beta-globin messenger RNAs in homozygous beta+ thalassemia. Proc Natl Acad Sci U S A. 1977 Sep;74(9):3960–3964. doi: 10.1073/pnas.74.9.3960. [DOI] [PMC free article] [PubMed] [Google Scholar]
  151. Ohene-Frempong K., Rappaport E., Atwater J., Schwartz E., Surrey S. Alpha-gene deletions in black newborn infants with Hb Bart's. Blood. 1980 Nov;56(5):931–933. [PubMed] [Google Scholar]
  152. Ohta Y., Yasukawa M., Saito S., Fujita S., Kobayashi Y. Homozygous delta thalassemia in Japan. Hemoglobin. 1980;4(3-4):417–425. doi: 10.3109/03630268008996222. [DOI] [PubMed] [Google Scholar]
  153. Old J. M., Ayyub H., Wood W. G., Clegg J. B., Weatherall D. J. Linkage analysis of nondeletion hereditary persistence of fetal hemoglobin. Science. 1982 Feb 19;215(4535):981–982. doi: 10.1126/science.6186021. [DOI] [PubMed] [Google Scholar]
  154. Old J. M., Proudfoot N. J., Wood W. G., Longley J. I., Clegg J. B., Weatherall D. J. Characterization of beta-globin mRNA in the beta0 thalassemias. Cell. 1978 Jun;14(2):289–298. doi: 10.1016/0092-8674(78)90115-0. [DOI] [PubMed] [Google Scholar]
  155. Orkin S. H., Alter B. P., Altay C. Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. J Clin Invest. 1979 Sep;64(3):866–869. doi: 10.1172/JCI109535. [DOI] [PMC free article] [PubMed] [Google Scholar]
  156. Orkin S. H., Alter B. P., Altay C., Mahoney M. J., Lazarus H., Hobbins J. C., Nathan D. G. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med. 1978 Jul 27;299(4):166–172. doi: 10.1056/NEJM197807272990403. [DOI] [PubMed] [Google Scholar]
  157. Orkin S. H., Goff S. C., Hechtman R. L. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5041–5045. doi: 10.1073/pnas.78.8.5041. [DOI] [PMC free article] [PubMed] [Google Scholar]
  158. Orkin S. H., Goff S. C., Nathan D. G. Heterogeneity of DNA deletion in gamma delta beta-thalassemia. J Clin Invest. 1981 Mar;67(3):878–884. doi: 10.1172/JCI110105. [DOI] [PMC free article] [PubMed] [Google Scholar]
  159. Orkin S. H., Goff S. C. Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes. J Biol Chem. 1981 Oct 10;256(19):9782–9784. [PubMed] [Google Scholar]
  160. Orkin S. H., Goff S. C. The duplicated human alpha-globin genes: their relative expression as measured by RNA analysis. Cell. 1981 May;24(2):345–351. doi: 10.1016/0092-8674(81)90324-x. [DOI] [PubMed] [Google Scholar]
  161. Orkin S. H., Kazazian H. H., Jr, Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 1982 Apr 15;296(5858):627–631. doi: 10.1038/296627a0. [DOI] [PubMed] [Google Scholar]
  162. Orkin S. H., Kazazian H. H., Jr, Antonarakis S. E., Ostrer H., Goff S. C., Sexton J. P. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature. 1982 Dec 23;300(5894):768–769. doi: 10.1038/300768a0. [DOI] [PubMed] [Google Scholar]
  163. Orkin S. H., Kolodner R., Michelson A., Husson R. Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3558–3562. doi: 10.1073/pnas.77.6.3558. [DOI] [PMC free article] [PubMed] [Google Scholar]
  164. Orkin S. H., Little P. F., Kazazian H. H., Jr, Boehm C. D. Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. N Engl J Med. 1982 Jul 1;307(1):32–36. doi: 10.1056/NEJM198207013070106. [DOI] [PubMed] [Google Scholar]
  165. Orkin S. H., Michelson A. Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia. Nature. 1980 Jul 31;286(5772):538–540. doi: 10.1038/286538a0. [DOI] [PubMed] [Google Scholar]
  166. Orkin S. H., Old J. M., Weatherall D. J., Nathan D. G. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci U S A. 1979 May;76(5):2400–2404. doi: 10.1073/pnas.76.5.2400. [DOI] [PMC free article] [PubMed] [Google Scholar]
  167. Orkin S. H., Old J., Lazarus H., Altay C., Gurgey A., Weatherall D. J., Nathan D. G. The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell. 1979 May;17(1):33–42. doi: 10.1016/0092-8674(79)90292-7. [DOI] [PubMed] [Google Scholar]
  168. Orkin S. H. The duplicated human alpha globin genes lie close together in cellular DNA. Proc Natl Acad Sci U S A. 1978 Dec;75(12):5950–5954. doi: 10.1073/pnas.75.12.5950. [DOI] [PMC free article] [PubMed] [Google Scholar]
  169. Ota Y., Yamaoka K., Sumida I., Fujita S., Fujimura T. Homozygous delta-thalassemia first discovered in Japanese family with hereditary persistence of fetal hemoglobin. Blood. 1971 Jun;37(6):706–715. [PubMed] [Google Scholar]
  170. Ottolenghi S., Comi P., Giglioni B., Tolstoshev P., Lanyon W. G., Mitchell G. J., Williamson R., Russo G., Musumeci S., Schillro G. Delta-beta-thalassemia is due to a gene deletion. Cell. 1976 Sep;9(1):71–80. doi: 10.1016/0092-8674(76)90053-2. [DOI] [PubMed] [Google Scholar]
  171. Ottolenghi S., Comi P., Giglioni B., Williamson R., Vullo G., Conconi F. Direct demonstration of beta-globin mRNA in homozygous Ferrara betaO-thalassaemia patients. Nature. 1977 Mar 17;266(5599):231–234. doi: 10.1038/266231a0. [DOI] [PubMed] [Google Scholar]
  172. Ottolenghi S., Giglioni B., Comi P., Gianni A. M., Polli E., Acquaye C. T., Oldham J. H., Masera G. Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease. Nature. 1979 Apr 12;278(5705):654–657. doi: 10.1038/278654a0. [DOI] [PubMed] [Google Scholar]
  173. Ottolenghi S., Giglioni B., Taramelli R., Comi P., Mazza U., Saglio G., Camaschella C., Izzo P., Cao A., Galanello R. Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci U S A. 1982 Apr;79(7):2347–2351. doi: 10.1073/pnas.79.7.2347. [DOI] [PMC free article] [PubMed] [Google Scholar]
  174. Ottolenghi S., Giglioni B. The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Nature. 1982 Dec 23;300(5894):770–771. doi: 10.1038/300770a0. [DOI] [PubMed] [Google Scholar]
  175. Ottolenghi S., Lanyon W. G., Paul J., Williamson R., Weatherall D. J., Clegg J. B., Pritchard J., Pootrakul S., Boon W. H. The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. Nature. 1974 Oct 4;251(5474):389–392. doi: 10.1038/251389a0. [DOI] [PubMed] [Google Scholar]
  176. Ottolenghi S., Lanyon W. G., Williamson R., Weatherall D. J., Clegg J. B., Pitcher C. S. Human globin gene analysis for a patient with beta-o/delta beta-thalassemia. Proc Natl Acad Sci U S A. 1975 Jun;72(6):2294–2299. doi: 10.1073/pnas.72.6.2294. [DOI] [PMC free article] [PubMed] [Google Scholar]
  177. Owerbach D., Bell G. I., Rutter W. J., Shows T. B. The insulin gene is located on chromosome 11 in humans. Nature. 1980 Jul 3;286(5768):82–84. doi: 10.1038/286082a0. [DOI] [PubMed] [Google Scholar]
  178. Pagnier J., Elion J., Lapouméroulie C., Vigneron C., Labie D. Homozygous deletional alpha + thalassaemia associated with unequal expression of the two remaining alpha 1 genes (alpha 1A and alpha 1Q). Br J Haematol. 1982 Sep;52(1):115–125. doi: 10.1111/j.1365-2141.1982.tb03868.x. [DOI] [PubMed] [Google Scholar]
  179. Papayannopoulou T., Lawn R. M., Stamatoyannopoulos G., Maniatis T. Greek (A gamma) variant of hereditary persistence of fetal haemoglobin: globin gene organization and studies of expression of fetal haemoglobins in clonal erythroid cultures. Br J Haematol. 1982 Mar;50(3):387–399. doi: 10.1111/j.1365-2141.1982.tb01934.x. [DOI] [PubMed] [Google Scholar]
  180. Pergolizzi R., Spritz R. A., Spence S., Goossens M., Kan Y. W., Bank A. Two cloned beta thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res. 1981 Dec 21;9(24):7065–7072. doi: 10.1093/nar/9.24.7065. [DOI] [PMC free article] [PubMed] [Google Scholar]
  181. Phillips J. A., 3rd, Scott A. F., Smith K. D., Young K. E., Lightbody K. L., Jiji R. M., Kazazian H. H., Jr A molecular basis for hemoglobin-H disease in American blacks. Blood. 1979 Dec;54(6):1439–1445. [PubMed] [Google Scholar]
  182. Phillips J. A., 3rd, Vik T. A., Scott A. F., Young K. E., Kazazian H. H., Jr, Smith K. D., Fairbanks V. F., Koenig H. M. Unequal crossing-over: a common basis of single alpha-globin genes in Asians and American blacks with hemoglobin-H disease. Blood. 1980 Jun;55(6):1066–1069. [PubMed] [Google Scholar]
  183. Poncz M., Ballantine M., Solowiejczyk D., Barak I., Schwartz E., Surrey S. beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box. J Biol Chem. 1982 Jun 10;257(11):5994–5996. [PubMed] [Google Scholar]
  184. Pressley L., Higgs D. R., Aldridge B., Metaxatou-Mavromati A., Clegg J. B., Weatherall D. J. Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex. Nucleic Acids Res. 1980 Nov 11;8(21):4889–4898. doi: 10.1093/nar/8.21.4889. [DOI] [PMC free article] [PubMed] [Google Scholar]
  185. Pressley L., Higgs D. R., Clegg J. B., Perrine R. P., Pembrey M. E., Weatherall D. J. A new genetic basis for hemoglobin-H disease. N Engl J Med. 1980 Dec 11;303(24):1383–1388. doi: 10.1056/NEJM198012113032402. [DOI] [PubMed] [Google Scholar]
  186. Pressley L., Higgs D. R., Clegg J. B., Weatherall D. J. Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3586–3589. doi: 10.1073/pnas.77.6.3586. [DOI] [PMC free article] [PubMed] [Google Scholar]
  187. Proudfoot N. J., Brownlee G. G. 3' non-coding region sequences in eukaryotic messenger RNA. Nature. 1976 Sep 16;263(5574):211–214. doi: 10.1038/263211a0. [DOI] [PubMed] [Google Scholar]
  188. Proudfoot N. J., Gil A., Maniatis T. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell. 1982 Dec;31(3 Pt 2):553–563. doi: 10.1016/0092-8674(82)90311-7. [DOI] [PubMed] [Google Scholar]
  189. Proudfoot N. J., Gillam S., Smith M., Longley J. I. Nucleotide sequence of the 3' terminal third of rabbit alpha-globin messenger RNA: comparison with human alpha-globin messenger RNA. Cell. 1977 Aug;11(4):807–818. doi: 10.1016/0092-8674(77)90293-8. [DOI] [PubMed] [Google Scholar]
  190. Proudfoot N. J., Maniatis T. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication. Cell. 1980 Sep;21(2):537–544. doi: 10.1016/0092-8674(80)90491-2. [DOI] [PubMed] [Google Scholar]
  191. Proudfoot N. J., Shander M. H., Manley J. L., Gefter M. L., Maniatis T. Structure and in vitro transcription of human globin genes. Science. 1980 Sep 19;209(4463):1329–1336. doi: 10.1126/science.6158093. [DOI] [PubMed] [Google Scholar]
  192. Ramirez F., Mears J. G., Nudel U., Bank A., Luzzatto L., DiPrisco G., D'Avino R., Pepe G., Camardella L., Gambino R. Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore. J Clin Invest. 1979 Apr;63(4):736–742. doi: 10.1172/JCI109357. [DOI] [PMC free article] [PubMed] [Google Scholar]
  193. Ramirez F., O'Donnell J. V., Marks P. A., Bank A., Musumeci S., Schilirò G., Pizzarelli G., Russo G., Luppis B., Gambino R. Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia. Nature. 1976 Oct 7;263(5577):471–475. doi: 10.1038/263471a0. [DOI] [PubMed] [Google Scholar]
  194. Ramirez F., Starkman D., Bank A., Kerem H., Cividalli G., Rachmilewitz E. A. Absence of beta mRNA in beta0-thalassemia in Kurdish Jews. Blood. 1978 Oct;52(4):735–739. [PubMed] [Google Scholar]
  195. Ringelhann B., Konotey-Ahulu F. I., Lehmann H., Lorkin P. A. A Ghanaian adult, homozygous for hereditary persistence of foetal haemoglobin and heterozygous for elliptocytosis. Acta Haematol. 1970;43(2):100–110. doi: 10.1159/000208719. [DOI] [PubMed] [Google Scholar]
  196. Ritchey A. K., Hoffman R., Coupal E., Floyd V., Pearson H. A., Forget B. G. Imbalanced globin chain synthesis in cultured erythroid progenitor cells from thalassemic bone marrow and peripheral blood. Blood. 1981 Apr;57(4):788–793. [PubMed] [Google Scholar]
  197. Roberts A. V., Clegg J. B., Weatherall D. J., Ohta Y. Synthesis in vitro of anti-Lepore haemoglobin. Nat New Biol. 1973 Sep 5;245(140):23–24. doi: 10.1038/newbio245023a0. [DOI] [PubMed] [Google Scholar]
  198. Roberts A. V., Weatherall D. J., Clegg J. B. The synthesis of human haemoglobin A 2 during erythroid maturation. Biochem Biophys Res Commun. 1972 Apr 14;47(1):81–87. doi: 10.1016/s0006-291x(72)80013-5. [DOI] [PubMed] [Google Scholar]
  199. Sancar G. B., Cedeno M. M., Rieder R. F. The varied arrangement of the alpha globin genes in alpha thalassemia and Hb H disease in American blacks. Johns Hopkins Med J. 1980 Jun;146(6):264–269. [PubMed] [Google Scholar]
  200. Sancar G. B., Tatsis B., Cedeno M. M., Rieder R. F. Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6874–6878. doi: 10.1073/pnas.77.11.6874. [DOI] [PMC free article] [PubMed] [Google Scholar]
  201. Sanders-Haigh L., Anderson W. F., Francke U. The beta-globin gene is on the short arm of human chromosome 11. Nature. 1980 Feb 14;283(5748):683–686. doi: 10.1038/283683a0. [DOI] [PubMed] [Google Scholar]
  202. Sanguansermsri T., Matragoon S., Changloah L., Flatz G. Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia. Hemoglobin. 1979;3(2-3):161–174. doi: 10.3109/03630267908998911. [DOI] [PubMed] [Google Scholar]
  203. Schilirò G., Musumeci S., Pizzarelli G., Di Gregorio L., Fischer A., Russo G. beta-Thalassemia in Sicily: hematological and biosynthetic studies. Acta Haematol. 1978;60(4):193–200. doi: 10.1159/000207715. [DOI] [PubMed] [Google Scholar]
  204. Scott A. F., Phillips J. A., 3rd, Young K. E., Kazazian H. H., Jr, Smith K. D., Charache S., Clegg J. B. The molecular basis of hemoglobin Grady. Am J Hum Genet. 1981 Jan;33(1):129–133. [PMC free article] [PubMed] [Google Scholar]
  205. Seid-Akhavan M., Winter W. P., Abramson R. K., Rucknagel D. L. Hemoglobin Wayne: a frameshift mutation detected in human hemoglobin alpha chains. Proc Natl Acad Sci U S A. 1976 Mar;73(3):882–886. doi: 10.1073/pnas.73.3.882. [DOI] [PMC free article] [PubMed] [Google Scholar]
  206. Seif I., Khoury G., Dhar R. BKV splice sequences based on analysis of preferred donor and acceptor sites. Nucleic Acids Res. 1979 Jul 25;6(10):3387–3398. doi: 10.1093/nar/6.10.3387. [DOI] [PMC free article] [PubMed] [Google Scholar]
  207. Shen S. H., Smithies O. Human globin psi B2 is not a globin-related sequence. Nucleic Acids Res. 1982 Dec 11;10(23):7809–7818. doi: 10.1093/nar/10.23.7809. [DOI] [PMC free article] [PubMed] [Google Scholar]
  208. Sicard D., Lieurzou Y., Lapoumeroulie C., Labie D. High genetic polymorphism of hemoglobin disorders in Laos. Complex phenotypes due to associated thalassemic syndromes. Hum Genet. 1979 Sep;50(3):327–336. doi: 10.1007/BF00399399. [DOI] [PubMed] [Google Scholar]
  209. Slightom J. L., Blechl A. E., Smithies O. Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 1980 Oct;21(3):627–638. doi: 10.1016/0092-8674(80)90426-2. [DOI] [PubMed] [Google Scholar]
  210. Sophocleous T., Higgs D. R., Aldridge B., Trent R. J., Pressley L., Clegg J. B., Weatherall D. J. The molecular basis for the haemoglobin Bart's hydrops fetalis syndrome in Cyprus. Br J Haematol. 1981 Jan;47(1):153–156. doi: 10.1111/j.1365-2141.1981.tb02770.x. [DOI] [PubMed] [Google Scholar]
  211. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  212. Spence S. E., Pergolizzi R. G., Donovan-Peluso M., Kosche K. A., Dobkin C. S., Bank A. Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient. Nucleic Acids Res. 1982 Feb 25;10(4):1283–1294. doi: 10.1093/nar/10.4.1283. [DOI] [PMC free article] [PubMed] [Google Scholar]
  213. Spritz R. A., DeRiel J. K., Forget B. G., Weissman S. M. Complete nucleotide sequence of the human delta-globin gene. Cell. 1980 Oct;21(3):639–646. doi: 10.1016/0092-8674(80)90427-4. [DOI] [PubMed] [Google Scholar]
  214. Spritz R. A., Jagadeeswaran P., Choudary P. V., Biro P. A., Elder J. T., deRiel J. K., Manley J. L., Gefter M. L., Forget B. G., Weissman S. M. Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2455–2459. doi: 10.1073/pnas.78.4.2455. [DOI] [PMC free article] [PubMed] [Google Scholar]
  215. Spritz R. A., Orkin S. H. Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. Nucleic Acids Res. 1982 Dec 20;10(24):8025–8029. doi: 10.1093/nar/10.24.8025. [DOI] [PMC free article] [PubMed] [Google Scholar]
  216. Surrey S., Chambers J. S., Muni D., Schwartz E. Restriction endonuclease analysis of human globin genes in cellular DNA. Biochem Biophys Res Commun. 1978 Aug 14;83(3):1125–1131. doi: 10.1016/0006-291x(78)91512-7. [DOI] [PubMed] [Google Scholar]
  217. Surrey S., Ohene-Frempong K., Rappaport E., Atwater J., Schwartz E. Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans . Proc Natl Acad Sci U S A. 1980 Aug;77(8):4885–4889. doi: 10.1073/pnas.77.8.4885. [DOI] [PMC free article] [PubMed] [Google Scholar]
  218. THOMPSON R. B., ODOM J., WARRINGTON R., BELL W. N. THALASSEMIA WITH COMPLETE ABSENCE OF HEMOGLOBIN A2 IN AN ADULT. Acta Haematol. 1965 Mar;33:186–190. doi: 10.1159/000209527. [DOI] [PubMed] [Google Scholar]
  219. Tabone P., Henni T., Belhani M., Colonna P., Verdier G., Godet J. Hemoglobin H disease from Algeria: genetic and molecular characterization. Acta Haematol. 1981;65(1):26–31. doi: 10.1159/000207145. [DOI] [PubMed] [Google Scholar]
  220. Tam J. W., Kaufman R. E., Nienhuis A. W. Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping. Hemoglobin. 1981;5(3):209–215. doi: 10.3109/03630268108997545. [DOI] [PubMed] [Google Scholar]
  221. Taylor J. M., Dozy A., Kan Y. W., Varmus H. E., Lie-Injo L. E., Ganesan J., Todd D. Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature. 1974 Oct 4;251(5474):392–393. doi: 10.1038/251392a0. [DOI] [PubMed] [Google Scholar]
  222. Temple G. F., Chang J. C., Kan Y. W. Authentic beta-globin mRNA sequences in homozygous betaO-thalassemia. Proc Natl Acad Sci U S A. 1977 Jul;74(7):3047–3051. doi: 10.1073/pnas.74.7.3047. [DOI] [PMC free article] [PubMed] [Google Scholar]
  223. Thompson R. B., Hewett B., Jr, Ard E., Odom J., Bell W. N. A new thalassemic syndrome: homozygous hemoglobin S disease delta thalassemia. Acta Haematol. 1966;36(5):412–417. doi: 10.1159/000209421. [DOI] [PubMed] [Google Scholar]
  224. Thompson R. B., Odom J., Ard E., Bell W. N. Interaction between beta and delta thalassemia and hemoglobin D. Acta Genet Stat Med. 1966;16(4):340–349. doi: 10.1159/000151981. [DOI] [PubMed] [Google Scholar]
  225. Thompson R. B., Warrington R., Odom J., Bell W. N. Interaction between genes for delta thalassemia and hereditary persistence of foetal hemoglobin. Acta Genet Stat Med. 1965;15(3):190–200. doi: 10.1159/000151910. [DOI] [PubMed] [Google Scholar]
  226. Todd D., Chan V., Schneider R. G., Dozy A. M., Kan Y. W., Chan T. K. Globin chain synthesis in haemoglobin New York (beta 113 replaced by glutamic acid). Br J Haematol. 1980 Dec;46(4):557–564. doi: 10.1111/j.1365-2141.1980.tb06012.x. [DOI] [PubMed] [Google Scholar]
  227. Tolstoshev P., Mitchell J., Lanyon G., Williamson R., Ottolenghi S., Comi P., Giglioni B., Masera G., Modell B., Weatherall D. J. Presence of gene for beta globin in homozygous beta0 thalassaemia. Nature. 1976 Jan 15;259(5539):95–98. doi: 10.1038/259095a0. [DOI] [PubMed] [Google Scholar]
  228. Traeger J., Winichagoon P., Wood W. G. Instability of beta E-messenger RNA during erythroid cell maturation in hemoglobin E homozygotes. J Clin Invest. 1982 Apr;69(4):1050–1053. doi: 10.1172/JCI110510. [DOI] [PMC free article] [PubMed] [Google Scholar]
  229. Traeger J., Wood W. G., Clegg J. B., Weatherall D. J. Defective synthesis of HbE is due to reduced levels of beta E mRNA. Nature. 1980 Dec 4;288(5790):497–499. doi: 10.1038/288497a0. [DOI] [PubMed] [Google Scholar]
  230. Trecartin R. F., Liebhaber S. A., Chang J. C., Lee K. Y., Kan Y. W., Furbetta M., Angius A., Cao A. beta zero thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest. 1981 Oct;68(4):1012–1017. doi: 10.1172/JCI110323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  231. Treisman R., Proudfoot N. J., Shander M., Maniatis T. A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing. Cell. 1982 Jul;29(3):903–911. doi: 10.1016/0092-8674(82)90452-4. [DOI] [PubMed] [Google Scholar]
  232. Trent R. J., Bowden D. K., Old J. M., Wainscoat J. S., Clegg J. B., Weatherall D. J. A novel rearrangement of the human beta-like globin gene cluster. Nucleic Acids Res. 1981 Dec 21;9(24):6723–6733. doi: 10.1093/nar/9.24.6723. [DOI] [PMC free article] [PubMed] [Google Scholar]
  233. Tuan D., Biro P. A., deRiel J. K., Lazarus H., Forget B. G. Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res. 1979 Jun 11;6(7):2519–2544. doi: 10.1093/nar/6.7.2519. [DOI] [PMC free article] [PubMed] [Google Scholar]
  234. Tuan D., Murnane M. J., deRiel J. L., Forget B. G. Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature. 1980 May 29;285(5763):335–337. doi: 10.1038/285335a0. [DOI] [PubMed] [Google Scholar]
  235. Van der Ploeg L. H., Konings A., Oort M., Roos D., Bernini L., Flavell R. A. gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man. Nature. 1980 Feb 14;283(5748):637–642. doi: 10.1038/283637a0. [DOI] [PubMed] [Google Scholar]
  236. Weatherall D. J., Higgs D. R., Bunch C., Old J. M., Hunt D. M., Pressley L., Clegg J. B., Bethlenfalvay N. C., Sjolin S., Koler R. D. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med. 1981 Sep 10;305(11):607–612. doi: 10.1056/NEJM198109103051103. [DOI] [PubMed] [Google Scholar]
  237. Weatherall D. J., Old J., Longley J., Wood W. G., Clegg J. B., Pollock A., Lewis M. J. Acquired haemoglobin H disease in leukemia: pathophysiology and molecular basis. Br J Haematol. 1978 Mar;38(3):305–322. doi: 10.1111/j.1365-2141.1978.tb01049.x. [DOI] [PubMed] [Google Scholar]
  238. Went L. N. Abnormal hemoglobins caused by deletions: a review. Hemoglobin. 1979;3(2-3):117–136. doi: 10.3109/03630267908998908. [DOI] [PubMed] [Google Scholar]
  239. Westaway D., Williamson R. An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene. Nucleic Acids Res. 1981 Apr 24;9(8):1777–1788. doi: 10.1093/nar/9.8.1777. [DOI] [PMC free article] [PubMed] [Google Scholar]
  240. White J. M., Lang A., Lorkin P. A., Lehmann H., Reeve J. Synthesis of haemoglobin Lepore. Nat New Biol. 1972 Feb 16;235(59):208–210. doi: 10.1038/newbio235208a0. [DOI] [PubMed] [Google Scholar]
  241. Whitney J. B., 3rd, Martinell J., Popp R. A., Russell L. B., Anderson W. F. Deletions in the alpha-globin gene complex in alpha-thalassemic mice. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7644–7647. doi: 10.1073/pnas.78.12.7644. [DOI] [PMC free article] [PubMed] [Google Scholar]
  242. Wilson J. T., Milner P. F., Summer M. E., Nallaseth F. S., Fadel H. E., Reindollar R. H., McDonough P. G., Wilson L. B. Use of restriction endonucleases for mapping the allele for beta s-globin. Proc Natl Acad Sci U S A. 1982 Jun;79(11):3628–3631. doi: 10.1073/pnas.79.11.3628. [DOI] [PMC free article] [PubMed] [Google Scholar]
  243. Wilson J. T., Wilson L. B., Ohta Y. A case of homozygous delta thalassemia not due to a deletion of the delta globin structural gene. Biochem Biophys Res Commun. 1981 Apr 30;99(4):1035–1039. doi: 10.1016/0006-291x(81)90722-1. [DOI] [PubMed] [Google Scholar]
  244. Wilson J. T., deRiel J. K., Forget B. G., Marotta C. A., Weissman S. M. Nucleotide sequence of 3' untranslated portion of human alpha globin mRNA. Nucleic Acids Res. 1977 Jul;4(7):2353–2368. doi: 10.1093/nar/4.7.2353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  245. Wood W. G., MacRae I. A., Darbre P. D., Clegg J. B., Weatherall D. J. The British type of non-deletion HPFH: characterization of developmental changes in vivo and erythroid growth in vitro. Br J Haematol. 1982 Mar;50(3):401–414. doi: 10.1111/j.1365-2141.1982.tb01935.x. [DOI] [PubMed] [Google Scholar]
  246. Wood W. G., Old J. M., Roberts A. V., Clegg J. B., Weatherall D. J. Human globin gene expression: control of beta, delta and delta beta chain production. Cell. 1978 Oct;15(2):437–446. doi: 10.1016/0092-8674(78)90013-2. [DOI] [PubMed] [Google Scholar]
  247. Wood W. G., Weatherall D. J., Clegg J. B., Hamblin T. J., Edwards J. H., Barlow A. M. Heterocellular hereditary persistence of fetal haemoglobin (heterocellular HPFH) and its interaction with beta thalassaemia. Br J Haematol. 1977 Aug;36(4):461–473. doi: 10.1111/j.1365-2141.1977.tb00986.x. [DOI] [PubMed] [Google Scholar]
  248. Wood W. G., Weatherall D. J., Clegg J. B. Interaction of heterocellular hereditary persistence of foetal haemoglobin with beta thalassaemia and sickle cell anaemia. Nature. 1976 Nov 18;264(5583):247–249. doi: 10.1038/264247a0. [DOI] [PubMed] [Google Scholar]
  249. Yasukawa M., Saito S., Fujita S., Ohta Y., Ikeda K., Matsumoto I., Kobayashi Y. Five families with homozygous delta-thalassaemia in Japan. Br J Haematol. 1980 Oct;46(2):199–206. doi: 10.1111/j.1365-2141.1980.tb05958.x. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES