Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia

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.