Doença falciforme no Brasil. Origem, genótipo, haplótipos e distibuiçäo geográfica / Sickle cell disease in Brazil. Origin, genotypes, haplotypes and geographic distribution

A doença falciforme é a mais comum das alteraçöes hematológicas hereditárias conhecida no homem. Sua distribuiçäo no mundo afeta principalmente os negros da África e da América do Norte, bem como algumas populaçöes latinas. É estimado que no Brasil haja cerca de 7 milhöes de portadores säo do gene ßs, e cerca de 10 mil com doenças falciformes. Com o avanço no estudo de técnicas de DNA, tem sido muito fácil investigar a base molecular desta alteraçäo genética, e conhecer sua origem e distribuiçäo a partir da África. Por meio de análises de haplótipos do gene ßs, tem sido possível conhecer a origem desse gene no Brasil, e a prevalência dos haplótipos Banto e Benin

Sickle cell anemia in western Saudi Arabia

25 Saudi and Yemeni Arabs with sickle cell anemia from western Saudi Arabia aged between 5 and 30 years were studied. The mean study state haemoglobin concentration of 8 g/dl was lower than that of 10.7 g/dl reported previously for sickle cell anemia in Western Saudi Arabia. 14 patient had [HbF] of 10% or below [SSLF] while 11 patients had [HbF] above 10% [SSHF] No significant differences were found in the hemoglobin concentration and indices of the two groups. SSLF patients were significantly more prone to infection [P < 0.01], there was an overall high incidence of hepatomegaly [72%] and splenomegaly [60%]. Hepatomegaly was more common in the SSLF group [78.6%]. Saudi Arabian sickle cell anemia, even in patients with raised haemoglobin F levels, may be as clinically severe as in African patients