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

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

Research output: Contribution to journalArticlepeer-review

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 - Nov 26 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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