Abstract
We analyzed the prevalence of α-thalassemia mutations in 298 subjects from Eastern Sicily (Italy) with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal HbA2 and HbF, and normal serum iron. In 131 subjects (43.9%) we found six different genotypes of α-thalassemia: -α3.7/αα (36.6%), -α3.7/-α3.7 (27.5%), –MED/αα (10.0%), -α20.5/αα (9.1%), αHphIα/αα (8.4%), αHphIα/αHphIα (6.1%), and -α3.7/αHphIα (2.3%). Our data underline that in Eastern Sicily populations, the molecular screening of α-thalassemia mutations and/or deletions may be useful to better characterize the clinically asymptomatic subjects with a slightly reduced MCV and MCH and normal iron status.
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Di Bella, C., Salpietro, C., La Rosa, M. et al. Identification of α-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2. Ann Hematol 85, 829–831 (2006). https://doi.org/10.1007/s00277-006-0165-6
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DOI: https://doi.org/10.1007/s00277-006-0165-6