Identification of the First Mutation in a Bre Motif of the β-Globin Gene and its Inheritance with two Other α-Globin Gene Mutations in a Lebanese Family

Abstract

A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The proband and his sibling also inherited common α-globin mutations from the father and mother. In all cases, no serious thalassemia disease was detected.

• Hemoglobin (Hb)
• BRE motif
• Anemia
• β-Globin
• α-Globin