Two Novel and Five Rare Mutations in the Non Coding Regions of the β-Globin Gene in the Iranian Population.

β-Thalassemia (β-thal) is one of the most frequent genetic disorder in Iran with great mutational diversity. In this study, we describe two novel and five rare mutations in the non coding regions of the β-globin gene; these mutations were identified in the non coding regions of the β-globin gene () in the heterozygous state. Three alterations were detected in the promoter region, including -9 (C>G) [: c.

A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient.

Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly.

Methods: A six-year-old boy from Khuzestan Province and his parents were studied.