Hemoglobin E in Europeans

Further evidence for multiple origins of the β(E)-globin gene

Haig Kazazian, P. G. Waber, C. D. Boehm, J. I. Lee, S. E. Antonarakis, V. F. Fairbanks

Research output: Contribution to journalArticle

Abstract

We have determined haplotypes for the known restriction site polymorphisms in the β-globin gene cluster in two families of European ancestry containing individuals who are heterozygous for hemoglobin E. In both families, the β(E) mutation is associated with a haplotype not previously found among the haplotypes of β(E) chromosomes in Southeast Asia. Moreover, in one family, the mutation is present in a β-gene framework not found in β(E) chromosomes of Southeast Asia. These data provide further evidence of multiple independent origins of the β(E) mutation in human populations.

Original languageEnglish (US)
Pages (from-to)212-217
Number of pages6
JournalAmerican Journal of Human Genetics
Volume36
Issue number1
StatePublished - 1984

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Hemoglobin E
Globins
Chromosomes, Human, 16-18
Haplotypes
Southeastern Asia
Mutation
Genes
Multigene Family
Population

ASJC Scopus subject areas

  • Genetics

Cite this

Kazazian, H., Waber, P. G., Boehm, C. D., Lee, J. I., Antonarakis, S. E., & Fairbanks, V. F. (1984). Hemoglobin E in Europeans: Further evidence for multiple origins of the β(E)-globin gene. American Journal of Human Genetics, 36(1), 212-217.

Hemoglobin E in Europeans : Further evidence for multiple origins of the β(E)-globin gene. / Kazazian, Haig; Waber, P. G.; Boehm, C. D.; Lee, J. I.; Antonarakis, S. E.; Fairbanks, V. F.

In: American Journal of Human Genetics, Vol. 36, No. 1, 1984, p. 212-217.

Research output: Contribution to journalArticle

Kazazian, H, Waber, PG, Boehm, CD, Lee, JI, Antonarakis, SE & Fairbanks, VF 1984, 'Hemoglobin E in Europeans: Further evidence for multiple origins of the β(E)-globin gene', American Journal of Human Genetics, vol. 36, no. 1, pp. 212-217.
Kazazian, Haig ; Waber, P. G. ; Boehm, C. D. ; Lee, J. I. ; Antonarakis, S. E. ; Fairbanks, V. F. / Hemoglobin E in Europeans : Further evidence for multiple origins of the β(E)-globin gene. In: American Journal of Human Genetics. 1984 ; Vol. 36, No. 1. pp. 212-217.
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