GγAγ(δβ)°‐thalassaemia and a new form of γ globin gene triplication identified in the Yugoslavian population

摘要: Among several hundred apparently healthy Yugoslavian adults with slightly elevated levels of fetal haemoglobin, we have identified two distinct abnormalities. (a) A G gamma gamma(delta beta)0-thalassaemia heterozygosity an approximately 15 kb deletion which involves part the delta globin gene and beta gene. This is probably same as that seen among Italians (Ottolenghi et al, 1982; Care 1984). (b) nondeletion form hereditary persistence Hb F caused by a triplication (+)G gamma.(+)G gamma.A type. It characterized presence some 5% in heterozygote containing nearly 100% chains. The C----T mutation at position--158 5' to chain [(+)G gamma], through analyses Xmn I digests, was present both genes. known be associated increased production (Gilman & Huisman, 1985), thus responsible for these heterozygotes. condition different from type HPFH has been observed heterozygotes Black families, 3-4% (with mainly chains)