Hemoglobin Constitution of Double Heterozygotes for α or β-Thalassemia and HB J Sardegna

Abstract

In this study, we carried out α-globin gene mapping in 12 heterozygotes for Hb J Sardegna and in 5 double heterozygotes for this variant and β-thalassemia. Then, we correlated the Hb pattern with the α and β-globin genotype. In heterozygotes for Hb J Sardegna with a deletion of a single α-globin gene (αα/- α) the amount of the abnormal Hb was significantly (p < 0.001) higher than in heterozygotes for this variant with a full complement of 4 α-globin structural genes (27.5% versus 20.4%), Double heterozygotes for the abnormal hemoglobin and β -thalassemia with a full complement of 4 α-globin structural genes tended to have lower amount of the abnormal Hb than heterozygotes for this variant who do not have β-thalassemia.