Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia

Genet Test Mol Biomarkers. 2009 Apr;13(2):219-21. doi: 10.1089/gtmb.2008.0123.


Aim: To describe the molecular spectrum of alpha-thalassemia molecular defects in a population sample of Saudi Arabian patients from the eastern province.

Methods: DNA was extracted from 41 patients suffering from microcytic, hypochromic anemia. We screened the alpha-globin gene for deletional and nondeletional mutations.

Results: Besides the common Rightward alpha(-3.7) (64%), polyA mutation (AATAAA to AATAAG) was found (41%). The risk of developing hemoglobin H (HBH) disease in case of homozygous polyA inheritance highlights the importance of detecting such mutation.

Conclusion: The high prevalence of polyA mutation and the lack of any clue in discerning such alpha-thalassemia defect by routine complete blood count (CBC) necessitate a strict molecular screening of all cases presenting with hypochromic microcytic anemia.

MeSH terms

  • Anemia, Hypochromic / diagnosis
  • Anemia, Hypochromic / genetics*
  • Genetic Testing
  • Geography
  • Hemoglobin H
  • Homozygote
  • Humans
  • Mutation*
  • Poly A / genetics
  • Saudi Arabia
  • alpha-Globins / genetics
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*


  • alpha-Globins
  • Poly A
  • Hemoglobin H