The Molecular Basis of α-Thalassemia in the Qatari Pediatric Population

Abstractα-Thalassemia (α-thal) is widely reported in the Arabian Peninsula as one of the main causes of asymptomatic microcytic hypochromic red blood cells with or without anemia in the pediatric population. This is the first study that provides information about the molecular basis of α-thal in the Qatari population. Qatari school children between the ages of 5 and 15, exhibiting laboratory findings suggestive of microcytic anemia were pooled, and those with a mean corpuscular volume (MCV) of <80.0 fL and a hemoglobin (Hb) electropherogram that ruled out β-thalassemia (β-thal), were narrowed down to a group of 127. This group was screened for the −α3.7 (rightward) deletion, and the α−5 nt, αpolyA1 (αT-Saudi), αpolyA2 mutations. A second group of randomly selected Qatari individuals was also screened in order to determine the population’s allele frequency for the −α3.7 deletion. Thirty-nine point four percent of the individuals with microcytic hypochromic anemia were positive for the −α3.7 deletion (heter...