Article
Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes.
Annals of hematology - 1 Dec 2015
Mehta Pallavi R, Upadhye Dipti S, Sawant Pratibha M, Gorivale Manju S, Nadkarni Anita H, Shanmukhaiah Chandrakala, Ghosh Kanjaksha, Colah Roshan B
Abstract excerpt
Co-inheritance of triplicated α-genes can alter the clinical and hematological phenotypes of β-thalassemias. We evaluated the phenotypic diversity and transfusion requirements in β-thalassemia heterozygotes, homozygotes, and normal individuals with associated α-gene triplication. Clinical and hematological evaluation was done and the β-thalassemia mutations characterized by a covalent reverse dot blot...
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