The spectrum of β-thalassemia genes in China and southeast Asia

H. H. Kazazian, C. E. Dowling, P. G. Waber, S. Huang, W. H. Lo

Research output: Contribution to journalArticle

Abstract

To make possible prenatal diagnosis of β-thalassemia in China and Southeast Asia by direct detection of mutant β-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. Seventy-eight β-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 β-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 β-thalassemia in China and Southeast Asia should be feasible by simplified techniques for direct detection of point mutations.

Original languageEnglish (US)
Pages (from-to)964-966
Number of pages3
JournalBlood
Volume68
Issue number4
StatePublished - Dec 1 1986

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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  • Cite this

    Kazazian, H. H., Dowling, C. E., Waber, P. G., Huang, S., & Lo, W. H. (1986). The spectrum of β-thalassemia genes in China and southeast Asia. Blood, 68(4), 964-966.