Severity ranking of non-deletional alpha thalassemic alleles: Insights from an Omani family study

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6 Citations (Scopus)

Abstract

In an Omani family, four different alpha thalassemic alleles, one single-gene deletional (-α3.7) and three non-deletional forms (αTSaudi, αΔ5nt, and αΔG), interact in various combinations and result in two distinct hematological phenotypes, with and without HbH inclusions. After excluding the presence of potential genetic modifiers, viz associated β-thalassemic alleles or functional alpha hemoglobin stabilizing protein (AHSP) polymorphisms, we observed that only the genetic combinations involving αTSaudi mutation are associated with HbH inclusions (a marker of degree of α/β-chain imbalance) and high reticulocyte count (a marker of ongoing hemolysis). Overall, the αTSaudi mutation is associated with a more severe α-globin deficiency than the other two (αΔ5nt and αΔG) non-deletional α0 thalassemic mutations. The likely molecular explanation is that the compensatory increase in the linked α1 globin gene expression is much more compromised in cases with αTSaudi mutation.

Original languageEnglish
Pages (from-to)507-511
Number of pages5
JournalEuropean Journal of Haematology
Volume86
Issue number6
DOIs
Publication statusPublished - Jun 2011
Externally publishedYes

Keywords

  • Alleles
  • Alpha thalassemia
  • Genetics
  • Non-deletional mutations

ASJC Scopus subject areas

  • Hematology

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