Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia.
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.
Kazazian
H H
HH
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Dowling
C E
CE
Waber
P G
PG
Huang
S Z
SZ
Lo
W H
WH
Li
A
A
Tam
J W
JW
Kang
J
J
Antonarakis
S E
SE
D001210:Asia, Southeastern / Q000208:ethnology; D002170:Canada; D002681:China / Q000208:ethnology; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013789:Thalassemia / Q000145:classification / Q000235:genetics*; D014481:United States
D005914:Globins