Kazazian H H, Dowling C E, Waber P G, Huang S Z, Lo W H, Li A, Tam J W, Kang J, Antonarakis S E
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Prog Clin Biol Res. 1987;251:401-12.
We have studied the spectrum of mutations producing beta-thalassemia (beta-thal) in South China and Southeast Asia in two groups of patients. In randomly selected patients with beta-thal major we characterized 78 beta-thal genes. In patients with beta-thal intermedia, 22 beta-thal genes were studied. The relevant mutation was characterized in all 78 genes of the first group, and 21 of 22 (96%) of mutant genes in the second group. Eight point mutations were found among the 100 genes studied. Of these eight alleles, four constituted 90% of the total. Prenatal diagnosis of beta-thalassemia in this region should be feasible by simplified techniques for direct detection of point mutations.
