Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia.

H. H. Kazazian, C. E. Dowling, P. G. Waber, S. Z. Huang, W. H. Lo, A. Li, J. W. Tam, J. Kang, S. E. Antonarakis

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)401-412
Number of pages12
JournalProgress in clinical and biological research
Volume251
StatePublished - 1987

ASJC Scopus subject areas

  • Medicine(all)

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    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. (1987). Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia. Progress in clinical and biological research, 251, 401-412.