The spectrum of beta-thalassemia genes in China and Southeast Asia
HH Kazazian , CE Dowling, PG Waber, S Huang and WH Lo
To make possible prenatal diagnosis of beta-thalassemia in China and
Southeast Asia by direct detection of mutant beta-globin genes, we have
determined the spectrum of mutations producing the disorder in this region
of the world. Seventy-eight beta-thalassemia genes from Chinese and
Southeast Asians were randomly obtained, and the relevant mutation was
characterized in 76 (98%) of them. Seven different point mutations were
found among the 78 genes studied. Of these seven beta-thalassemia alleles,
two constitute 62%, and two others account for 29% of the total. Since only
four alleles make up 91% of the mutant genes, prenatal diagnosis of
beta-thalassemia in China and Southeast Asia should be feasible by
simplified techniques for direct detection of point mutations.
Volume 68,
Issue 4,
pp. 964-966,
10/01/1986
Copyright © 1986 by The American Society of Hematology
