A Novel Mutation of the α2-Globin causing α⁺-Thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2)

Abstract

We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional α-thalassemia (thal) mutation localized on the α2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG→CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional α-thal, was named Hb Plasencia [α125(H8)Leu→Arg (α2)] after the place of residence of the affected family.

• Nondeletional α-thalassemia (thal)
• Hemoglobinopathies
• Point mutation
• Codon 125
• Hb Plasencia