Article
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Hemoglobin - 1 Mar 2020
Horri-Naceur Agathe, Timson David J
Abstract excerpt
Hemoglobinopathies are inherited diseases that impair the structure and function of the oxygen-carrying pigment hemoglobin (Hb). Adult Hb consists of two α and two β subunits. α-Thalassemia (α-thal) affects the genes that code for the α-globin chains, HBA1 and HBA2. Mutations can result in asymptomatic, mild or severe outcomes depending on several factors, such as mutation type, number of mutations and the...
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