β-Thalassemia due to a deletion of the nucleotide which is substituted in the β(s)-globin gene

Haig Kazazian, S. H. Orkin, C. D. Boehm, J. P. Sexton, S. E. Antonarakis

Research output: Contribution to journalArticle

Abstract

Sickle-cell anemia results from an A → T transversion in the second nucleotide of codon 6 of the β-globin gene. We now report an uncommon β-thalassemia gene that contains a deletion of this nucleotide. Thus, one mutation (GAG ← GTG) produces sickle-cell anemia, while the other (GAG ← GG) eliminates β-globin production. These data establish that different alterations affecting one specific nucleotide can produce either an abnormal hemoglobin or β-thalassemia. Moreover, the nucleotide sequence comprising codons 6-8 of the β-globin gene appears to be particularly susceptible to mutations affecting nucleotide number.

Original languageEnglish (US)
Pages (from-to)1028-1033
Number of pages6
JournalAmerican Journal of Human Genetics
Volume35
Issue number5
StatePublished - 1983

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Thalassemia
Globins
Nucleotides
Sickle Cell Anemia
Codon
Genes
Abnormal Hemoglobins
Mutation

ASJC Scopus subject areas

  • Genetics

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Kazazian, H., Orkin, S. H., Boehm, C. D., Sexton, J. P., & Antonarakis, S. E. (1983). β-Thalassemia due to a deletion of the nucleotide which is substituted in the β(s)-globin gene. American Journal of Human Genetics, 35(5), 1028-1033.

β-Thalassemia due to a deletion of the nucleotide which is substituted in the β(s)-globin gene. / Kazazian, Haig; Orkin, S. H.; Boehm, C. D.; Sexton, J. P.; Antonarakis, S. E.

In: American Journal of Human Genetics, Vol. 35, No. 5, 1983, p. 1028-1033.

Research output: Contribution to journalArticle

Kazazian, H, Orkin, SH, Boehm, CD, Sexton, JP & Antonarakis, SE 1983, 'β-Thalassemia due to a deletion of the nucleotide which is substituted in the β(s)-globin gene', American Journal of Human Genetics, vol. 35, no. 5, pp. 1028-1033.
Kazazian, Haig ; Orkin, S. H. ; Boehm, C. D. ; Sexton, J. P. ; Antonarakis, S. E. / β-Thalassemia due to a deletion of the nucleotide which is substituted in the β(s)-globin gene. In: American Journal of Human Genetics. 1983 ; Vol. 35, No. 5. pp. 1028-1033.
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