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. 1971 Aug;50(8):1628–1636. doi: 10.1172/JCI106651

An Unusual Hemoglobin Anomaly and Its Relation to α-Thalassemia and Hemoglobin-H Disease

G D Efremov 1,2,3,4, Ruth N Wrightstone 1,2,3,4, T H J Huisman 1,2,3,4, W A Schroeder 1,2,3,4, Carol Hyman 1,2,3,4, Jorge Ortega 1,2,3,4, Kenneth Williams 1,2,3,4
PMCID: PMC442062  PMID: 5097570

Abstract

A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal α-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical α-thalassemia. These results are discussed in relation to current concepts of α-thalassemia as they relate to “silent” and “classical” α-thalassemia and to possible multiple α-chain loci.

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Selected References

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  1. ATWATER J., SCHWARTZ I. R., ERSLEV A. J., MONTGOMERY T. L., TOCANTINS L. M. Sickling of erythrocytes in a patient with thalassemia-hemoglobin-I disease. N Engl J Med. 1960 Dec 15;263:1215–1223. doi: 10.1056/NEJM196012152632402. [DOI] [PubMed] [Google Scholar]
  2. CHERNOFF A. I., PETTIT N. M., Jr THE AMINO ACID COMPOSITION OF HEMOGLOBIN. 3. A QUALITATIVE METHOD FOR IDENTIFYING ABNORMALITIES OF THE POLYPEPTIDE CHAINS OF HEMOGLOBIN. Blood. 1964 Dec;24:750–756. [PubMed] [Google Scholar]
  3. Clegg J. B., Naughton M. A., Weatherball D. J. Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok). J Mol Biol. 1966 Aug;19(1):91–108. doi: 10.1016/s0022-2836(66)80052-9. [DOI] [PubMed] [Google Scholar]
  4. DANCE N., HUEHNS E. R., BEAVEN G. H. The abnormal haemoglobins in haemoglobin-H disease. Biochem J. 1963 May;87:240–248. doi: 10.1042/bj0870240. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. DORMANDY K. M., LOCK S. P., LEHMANN H. Haemoglobin Q-alpha-thalassaemia. Br Med J. 1961 Jun 3;1(5239):1582–1585. doi: 10.1136/bmj.1.5239.1582. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. 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]
  7. 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]
  8. GOUTTAS A., FESSAS P., TSEVRENIS H., XEFTERI E. Description d'une nouvelle variété d'anémie hémolytique congénitale; etude hématologique, électrophorétique et génétique. Sang. 1955;26(9):911–919. [PubMed] [Google Scholar]
  9. GRIMES A. J., MEISLER A., DACIE J. V. CONGENITAL HEINZ-BODY ANAEMIA. FURTHER EVIDENCE ON THE CAUSE OF HEINZ-BODY PRODUCTION IN RED CELLS. Br J Haematol. 1964 Jul;10:281–290. doi: 10.1111/j.1365-2141.1964.tb00704.x. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. JONES R. T. LONG-PATH FLOW CELLS FOR AUTOMATIC AMINO ACIDS ANALYSIS. Anal Biochem. 1964 Nov;9:377–382. doi: 10.1016/0003-2697(64)90194-0. [DOI] [PubMed] [Google Scholar]
  12. JONES R. T., SCHROEDER W. A. CHEMICAL CHARACTERIZATION AND SUBUNIT HYBRIDIZATION OF HUMAN HEMOGLOBIN H AND ASSOCIATED COMPOUNDS. Biochemistry. 1963 Nov-Dec;2:1357–1367. doi: 10.1021/bi00906a031. [DOI] [PubMed] [Google Scholar]
  13. KOLER R. D., RIGAS D. A. Genetics of haemoglobin H. Ann Hum Genet. 1961 May;25:95–100. doi: 10.1111/j.1469-1809.1961.tb01503.x. [DOI] [PubMed] [Google Scholar]
  14. Kattamis C., Lehmann H. Duplication of alpha-thalassaemia gene in three Greek families with haemoglobin H disease. Lancet. 1970 Sep 26;2(7674):635–637. doi: 10.1016/s0140-6736(70)91401-7. [DOI] [PubMed] [Google Scholar]
  15. Kattamis C., Lehmann H. The genetical interpretation of haemoglobin H disease. Hum Hered. 1970;20(2):156–164. doi: 10.1159/000152304. [DOI] [PubMed] [Google Scholar]
  16. Lehmann H., Carrell R. W. Differences between alpha- and beta-chain mutants of human haemoglobin and between alpha- and beta-thalassaemia. Possible duplication of the alpha-chain gene. Br Med J. 1968 Dec 21;4(5633):748–750. doi: 10.1136/bmj.4.5633.748. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Necheles T. F., Cates M., Sheehan R. G., Meyer H. J. Hemoglobin H disease. A family study. Blood. 1966 Oct;28(4):501–512. [PubMed] [Google Scholar]
  18. RIGAS D. A., KOLER R. D., OSGOOD E. E. New hemoglobin possessing a higher electrophoretic mobility than normal adult hemoglobin. Science. 1955 Mar 11;121(3141):372–372. doi: 10.1126/science.121.3141.372. [DOI] [PubMed] [Google Scholar]
  19. 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]
  20. Wasi P., Na-Nakorn S., Pootrakul S., Sookanek M., Disthasongchan P., Panich V., Pornpatkul M. Alpha- and beta-thalassemia in Thailand. Ann N Y Acad Sci. 1969 Nov 20;165(1):60–82. doi: 10.1111/j.1749-6632.1969.tb27777.x. [DOI] [PubMed] [Google Scholar]
  21. Wasi P. The alpha thalassemia genes. J Med Assoc Thai. 1970 Oct;53(10):677–686. [PubMed] [Google Scholar]
  22. Weatherall D. J. The genetics of the thalassaemias. Br Med Bull. 1969 Jan;25(1):24–29. doi: 10.1093/oxfordjournals.bmb.a070665. [DOI] [PubMed] [Google Scholar]
  23. Weatherall D. J. The thalassemias. Semin Hematol. 1967 Jan;4(1):72–91. [PubMed] [Google Scholar]

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