Organization of the zeta-alpha genes in Chinese.
Analysis of alpha and zeta genes in 101 healthy normals and hospitalized patients with non-haematological diseases revealed a 3% incidence of alpha thalassaemia in the local Chinese population of Hong Kong. Triple alpha genes were found in only one person while triple zeta genes were more prevalent, occurring in 13 subjects. Studies of 28 unselected patients with Hb H disease indicated a predominance of the rightward alpha gene deletion. The extent of alpha gene deletion in homozygous alpha thalassaemia 1 was at least 18.1 kb, beginning from the BamH I site 3' to the zeta 1 gene and includes the psi alpha, alpha 2 and alpha 1 genes. Nineteen of the 20 chromosomes bearing the alpha thalassaemia 1 deletion had identical zeta-intergenic hypervariable region suggesting a common origin of this mutation. The co-inheritance of alpha thalassaemia in beta thalassaemia subjects was 8%, but did not ameliorate the clinical features of those with homozygous beta thalassaemia.
D002681:China / Q000208:ethnology; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006723:Hong Kong; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
D005914:Globins