Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.

摘要: In the present study, a total of 11 individuals with hypochromic microcytic anemia who did not reveal most common α-thalassemia (α-thal) deletions or mutations, were subjected to more investigations by DNA sequencing α-globin genes. Seven novel nondeletional α-thal mutations localized on α2-globin gene in heterozygous state identified. These either corrupted regulatory splice sites and consequently affected RNA processing created unstable hemoglobin (Hb) variants. The described here produced globin variants that lead amino acid changes critical regions chain. clinical presentation patients was persistent mild similar an α(+)-thal. last decade, numerous have been observed leading phenotype these studies considered be important as discussed here.