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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1975 Jun;12(2):165–173. doi: 10.1136/jmg.12.2.165

Homozygous beta thalassaemia in Liberia.

M C Willcox, D J Weatherall, J B Clegg
PMCID: PMC1013261  PMID: 1142380

Abstract

The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the more severely affected ones showed a milder picture than that found in Mediterranean races. Haemoglobin-synthesis studies carried out on three homozygotes and two heterozygotes indicated a variable degree of globin-chain imbalance. The reasons for the mild course of the disease in Liberians and other African races are discussed; it is likely that the beta-thalassaemia genes in these populations are different from those in other racial groups. It is noted that all persons in this study belong to tribes which have a low incidence of the sickle-cell gene.

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Selected References

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  1. Braverman A. S., McCurdy P. R., Manos O., Sherman A. Homozygous beta thalassemia in American Blacks: the problem of mild thalassemia. J Lab Clin Med. 1973 Jun;81(6):857–866. [PubMed] [Google Scholar]
  2. Crouch E. R., Jr, Maurer H. M., Valdes O. S. Probable homozygous beta thalassemia in a Negro child. Am J Dis Child. 1970 Oct;120(4):356–359. doi: 10.1001/archpedi.1970.02100090130018. [DOI] [PubMed] [Google Scholar]
  3. Esan G. J. The thalassaemia syndromes in Nigeria. Br J Haematol. 1970 Jul;19(1):47–56. doi: 10.1111/j.1365-2141.1970.tb01600.x. [DOI] [PubMed] [Google Scholar]
  4. Friedman S., Oski F. A., Schwartz E. Bone marrow and peripheral blood globin synthesis in an American black family with beta thalassemia. Blood. 1972 Jun;39(6):785–793. [PubMed] [Google Scholar]
  5. Kan Y. W., Nathan D. G. Mild thalassemia: the result of interactions of alpha and beta thalassemia genes. J Clin Invest. 1970 Apr;49(4):635–642. doi: 10.1172/JCI106274. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Knox-Macaulay H. H., Weatherall D. J., Clegg J. B., Pembrey M. E. Thalassaemia in the British. Br Med J. 1973 Jul 21;3(5872):150–155. doi: 10.1136/bmj.3.5872.150. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. LIVINGSTONE F. B. The distribution of the sickle cell gene in Liberia. Am J Hum Genet. 1958 Mar;10(1):33–41. [PMC free article] [PubMed] [Google Scholar]
  8. NEEL J. V., ROBINSON A. R., ZUELZER W. W., LIVINGSTONE F. B., SUTTON H. E. The frequency of elevations in the A and fetal hemoglobin fractions in the natives of Liberia and adjacent regions, with data on haptoglobin and transferrin types. Am J Hum Genet. 1961 Jun;13:262–278. [PMC free article] [PubMed] [Google Scholar]
  9. OLESEN E. B., OLESEN K., LIVINGSTONE F. B., COHEN F., ZUELZER W. W., ROBINSON A. R., NEEL J. V. Thalassaemia in Liberia. Br Med J. 1959 May 30;1(5134):1385–1387. doi: 10.1136/bmj.1.5134.1385. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Ringelhann B., Rudwick A. L. Thalassaemia major with complete suppression of HbA production in a Ghanaian girl. Acta Haematol. 1972;47(2):118–126. doi: 10.1159/000208503. [DOI] [PubMed] [Google Scholar]
  11. SINGER K., CHERNOFF A. I., SINGER L. Studies on abnormal hemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood. 1951 May;6(5):413–428. [PubMed] [Google Scholar]
  12. STIJNS J., CHARLES P. La tare thalassémique chez les Bantous d' Afrique centrale. Ann Soc Belg Med Trop (1920) 1956 Oct 31;36(5 BIS):763–779. [PubMed] [Google Scholar]
  13. WEATHERALL D. J. BIOCHEMICAL PHENOTYPES OF THALASSEMIA IN THE AMERICAN NEGRO POPULATION. Ann N Y Acad Sci. 1964 Oct 7;119:450–462. doi: 10.1111/j.1749-6632.1965.tb54046.x. [DOI] [PubMed] [Google Scholar]
  14. Weatherall D. J., Clegg J. B., Na-Nakorn S., Wasi P. The pattern of disordered haemoglobin synthesis in homozygous and heterozygous beta-thalassaemia. Br J Haematol. 1969 Mar;16(3):251–267. doi: 10.1111/j.1365-2141.1969.tb00400.x. [DOI] [PubMed] [Google Scholar]
  15. Weatherall D. J., Clegg J. B., Naughton M. A. Globin synthesis in thalassaemia: an in vitro study. Nature. 1965 Dec 11;208(5015):1061–1065. doi: 10.1038/2081061a0. [DOI] [PubMed] [Google Scholar]
  16. Weatherall D. J., Gilles H. M., Clegg J. B., Blankson J. A., Mustafa D., Boi-Doku F. S., Chaudhury D. S. Preliminary surveys for the prevalence of the thalassemia genes in some African populations. Ann Trop Med Parasitol. 1971 Jun;65(2):253–265. doi: 10.1080/00034983.1971.11686752. [DOI] [PubMed] [Google Scholar]
  17. Willcox M. C. Thalassaemia in northern Liberia. A survey in the Mount Nimba area. J Med Genet. 1975 Mar;12(1):55–63. doi: 10.1136/jmg.12.1.55. [DOI] [PMC free article] [PubMed] [Google Scholar]

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