Homozygous beta thalassaemia in Liberia.
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.
D044383:Black People; D004906:Erythrocyte Count; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006452:Hemoglobinometry; D006454:Hemoglobins / Q000096:biosynthesis; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000378:metabolism; D007988:Liberia; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D014316:Tritium
D006454:Hemoglobins; D014316:Tritium; D005319:Fetal Hemoglobin; D007930:Leucine