Severity ranking of non-deletional alpha thalassemic alleles

Insights from an Omani family study

Yasser Wali, Shoaib Al Zadjali, Mohamed Elshinawy, Ismail Beshlawi, Naglaa Fawaz, Salam Alkindi, Abdulhakim Rawas, Siham Alsinani, Shahina Daar, Rajagopal Krishnamoorthy

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

In an Omani family, four different alpha thalassemic alleles, one single-gene deletional (-α 3.7) and three non-deletional forms (α TSaudi, α Δ5nt, and α ΔG), 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 α TSaudi 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 α TSaudi mutation is associated with a more severe α-globin deficiency than the other two (α Δ5nt and α ΔG) non-deletional α 0 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 α TSaudi mutation.

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

Fingerprint

Alleles
Mutation
Globins
Reticulocyte Count
Hemolysis
Hemoglobins
Phenotype
Gene Expression
Genes
Proteins

Keywords

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

ASJC Scopus subject areas

  • Hematology

Cite this

Severity ranking of non-deletional alpha thalassemic alleles : Insights from an Omani family study. / Wali, Yasser; Zadjali, Shoaib Al; Elshinawy, Mohamed; Beshlawi, Ismail; Fawaz, Naglaa; Alkindi, Salam; Rawas, Abdulhakim; Alsinani, Siham; Daar, Shahina; Krishnamoorthy, Rajagopal.

In: European Journal of Haematology, Vol. 86, No. 6, 06.2011, p. 507-511.

Research output: Contribution to journalArticle

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