Variation in the level of fetal hemoglobin in (δβ)°‐thalassemia heterozygotes with different numbers of α‐globin genes

C. Öner, A. Gurgey, C. Altay, F. Kutlar, T. H J Huisman

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

The Sicilian type of (αβ)°‐thalassemia characterized by a ˜13 kb deletion, was present in a Turkish boy who is a homozygote and in his heterozygous parents who are first cousins. The father with ˜21% Hb F had five α‐globin genes (αα/ααα) and the mother with ˜10% Hb F had an α‐thal‐2 heterozygosity (αα/‐α). The difference in Hb F level is explained by a decreased formation of α2γ2 tetramers in the mother with an α‐chain deficiency while the extra α‐globin gene in the father will promote Hb F production.

Original languageEnglish (US)
Pages (from-to)230-231
Number of pages2
JournalAmerican Journal of Hematology
Volume34
Issue number3
DOIs
StatePublished - Jan 1 1990

Keywords

  • post‐translational control
  • Sicilian (δβ)°‐thal
  • subunit assembly
  • α‐globin gene triplication
  • α‐thal‐2

ASJC Scopus subject areas

  • Hematology

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