Molecular Basis of Thalassemia in Qatar

Abstract

There is a paucity of information on the molecular basis of β-thalassemia (thal) in Qatar, a country in the southern part of the Arabian Gulf. To decipher the molecular spectrum of β- thalassemic alleles present in Qatar, we studied 31 clinically recognized patients, including three with sickle cell disease and β-thal, and an additional six cases referred for unexplained microcytic anemia. We found 12 different β-thalassemic alleles and two yet to be defined alleles, mutations likely occurring elsewhere than in the β-globin gene per se. This is quite striking, given the small size of the study population, and highlights not only the ethnic diversity, but also the necessity of further investigating the thalassemic spectrum.

Keywords:

• β-Thalassemia (thal)
• Mutation
• Qatar
• Spectrum