Mild clinical course in two South African cases of sickle-cell anaemia.
Clinical, haematological and gene mapping data are presented on two South African cases of sickle-cell anaemia. Both individuals, who are siblings, have experienced a very mild clinical course. Restriction endonuclease analysis showed that 1 sibling was homozygous for alpha+-thalassaemia (genotype alpha-/alpha-), whereas the other had a full complement of alpha-globin genes. Both showed markedly elevated levels of Hb F. The maintenance of high levels of Hb F is the most probable explanation for the moderate clinical expression of the disorder in these patients.
D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005319:Fetal Hemoglobin / Q000032:analysis; D006801:Humans; D008297:Male; D013019:South Africa; D013789:Thalassemia / Q000235:genetics
D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes