Chinese (A)γ fetal hemoglobin: C to T substitution at position - 196 of the (A)γ gene promoter

R. Gelinas, M. Bender, C. Lotshaw, P. Waber, H. Kazazian, G. Stamatoyannopoulos

Research output: Contribution to journalArticlepeer-review

Abstract

The molecular basis for the hereditary persistence of fetal hemoglobin (HPFH) phenotype was studied in a Chinese individual who was heterozygous for a nondeletion form of (A)γ-HPFH. Both allelic (A)γ-globin genes were isolated by molecular cloning and subjected to nucleotide sequence analysis. One (A)γ gene promoter showed a cytosine to thymine transition at position -196, whereas the other promoter was normal. This mutation at position -196 has now been found in unrelated individuals with the (A)γ-HPFH phenotype from Italy, Sardinia, and China, suggesting that it may have arisen independently. The implications of this mutation for models of fetal globin gene switching are discussed.

Original languageEnglish (US)
Pages (from-to)1777-1779
Number of pages3
JournalBlood
Volume67
Issue number6
DOIs
StatePublished - 1986
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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