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. 1975 Nov;27(6):765–777.

A G gamma type of the hereditary persistence of fetal hemoglobin with beta chain production in cis.

T H Huisman, A Miller, W A Schroeder
PMCID: PMC1762888  PMID: 1200028

Abstract

In a new subclass of G gamma HPFH which has been detected in a black family, beta A chains are produced in cis to the HPFH determinant (the G gamma-beta+ HPFH). No other instance of beta chain production in cis to HPFH has been reported. All individuals in this family are well even if Hb S is produced in trans to HPFH. Genetically, this new subclass requires a slightly smaller deletion in the gamma, delta, and beta complex of genes than do other forms of HPFH. It is speculated that a subclass (the G gamma-(G gamma A gamma)-beta+ HPFH) in which beta S chains are produced in cis to HPFH in conjunction with true beta S genes in trans may be responsible for "mild" cases of sickle cell anemia.

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Selected References

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

  1. BETKE K., MARTI H. R., SCHLICHT I. Estimation of small percentages of foetal haemoglobin. Nature. 1959 Dec 12;184(Suppl 24):1877–1878. doi: 10.1038/1841877a0. [DOI] [PubMed] [Google Scholar]
  2. DeSimone J., Kleve L., Longley M. A., Shaeffer J. Unbalanced globin chain synthesis in reticulocytes of sickle cell trait individuals with low concentrations of hemoglobin S. Biochem Biophys Res Commun. 1974 Jul 24;59(2):564–569. doi: 10.1016/s0006-291x(74)80017-3. [DOI] [PubMed] [Google Scholar]
  3. Dozy A. M., Kleihauer E. F., Huisman T. H. Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex. J Chromatogr. 1968 Feb 20;32(4):723–727. doi: 10.1016/s0021-9673(01)80551-3. [DOI] [PubMed] [Google Scholar]
  4. Efremov C. D., Huisman T. H., Bowman K., Wrightstone R. N., Shroeder W. A. Microchromatography of hemoglobins. II. A rapid method for the determination of hemoglobin A2. J Lab Clin Med. 1974 Apr;83(4):657–664. [PubMed] [Google Scholar]
  5. Efremov G. D., Huisman T. H., Smith L. L., Wilson J. B., Kitchens J. L., Wrightstone R. N., Adams H. R. Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins. J Biol Chem. 1969 Nov 25;244(22):6105–6116. [PubMed] [Google Scholar]
  6. FESSAS P., STAMATOYANNOPOULOS G. HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IN GREECE. A STUDY AND A COMPARISON. Blood. 1964 Sep;24:223–240. [PubMed] [Google Scholar]
  7. Friedman S., Hamilton R. W., Schwartz E. Beta-thalassemia in the American Negro. J Clin Invest. 1973 Jun;52(6):1453–1459. doi: 10.1172/JCI107319. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Huisman T. H., Dozy A. M. Studies on the heterogeneity of hemoglobin. IX. The use of Tris(hydroxymethyl)aminomethanehcl buffers in the anion-exchange chromatography of hemoglobins. J Chromatogr. 1965 Jul;19(1):160–169. doi: 10.1016/s0021-9673(01)99434-8. [DOI] [PubMed] [Google Scholar]
  9. Huisman T. H. Normal and abnormal human hemoglobins. Adv Clin Chem. 1972;15:149–253. doi: 10.1016/s0065-2423(08)60160-2. [DOI] [PubMed] [Google Scholar]
  10. Huisman T. H., Schroeder W. A., Bouver N. G., Miller A., Shelton J. R., Shelton J. B., Apell G. Chemical heterogeneity of fetal hemoglobin in subjects with sickle cell anemia, homozygous Hb-C disease, SC disease, and various combinations of hemoglobin variants. Clin Chim Acta. 1972 Apr;38(1):5–16. doi: 10.1016/0009-8981(72)90201-x. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. Kendall A. G., Ojwang P. J., Schroeder W. A., Huisman T. H. Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family. Am J Hum Genet. 1973 Sep;25(5):548–563. [PMC free article] [PubMed] [Google Scholar]
  13. Mann J. R., MacNeish A. S., Bannister D., Clegg J. B., Wood W. G., Weatherall D. J. Delta-beta-thalassaemia in a Chinese family. Br J Haematol. 1972 Oct;23(4):393–402. doi: 10.1111/j.1365-2141.1972.tb07074.x. [DOI] [PubMed] [Google Scholar]
  14. Natta C. L., Niazi G. A., Ford S., Bank A. Balanced globin chain synthesis in hereditary persistence of fetal hemoglobin. J Clin Invest. 1974 Aug;54(2):433–438. doi: 10.1172/JCI107779. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. 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]
  16. Schroeder W. A., Huisman T. H., Shelton J. R., Shelton J. B., Apell G., Bouver N. Heterogeneity of fetal hemoglobin in beta-thalassemia of the Negro. Am J Hum Genet. 1970 Sep;22(5):505–514. [PMC free article] [PubMed] [Google Scholar]
  17. Schroeder W. A., Huisman T. H., Shelton J. R., Shelton J. B., Kleihauer E. F., Dozy A. M., Robberson B. Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin. Proc Natl Acad Sci U S A. 1968 Jun;60(2):537–544. doi: 10.1073/pnas.60.2.537. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Schroeder W. A., Huisman T. H., Shelton J. R., Wilson J. B. An improved method for quantitative determination of human fetal hemoglobin. Anal Biochem. 1970 May;35(1):235–243. doi: 10.1016/0003-2697(70)90030-8. [DOI] [PubMed] [Google Scholar]
  19. Siegel W., Cox R., Schroeder W., Huisman T. H., Penner O., Rowley P. T. An adult homozygous for persistent fetal hemoglobin. Ann Intern Med. 1970 Apr;72(4):533–536. doi: 10.7326/0003-4819-72-4-533. [DOI] [PubMed] [Google Scholar]
  20. Sukumaran P. K., Huisman T. H., Schroeder W. A., McCurdy P. R., Freehafer J. T., Bouver N., Shelton J. R., Shelton J. B., Apell G. A homozygote for the Hb G type of foetal haemoglobin in India: a study of two Indian and four Negro families. Br J Haematol. 1972 Oct;23(4):403–417. doi: 10.1111/j.1365-2141.1972.tb07075.x. [DOI] [PubMed] [Google Scholar]
  21. WHEELER J. T., KREVANS J. R. The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia. Bull Johns Hopkins Hosp. 1961 Nov;109:217–233. [PubMed] [Google Scholar]

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