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Case Reports
. 2005;29(2):113-7.

A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2)

Guillermo Martin  1 , Ana Villegas, Fernando Ataulfo González, Paloma Ropero, Ricardo Hojas, Marta Polo, Marta Mateo, Maria Salvador, Celina Benavente
Affiliations
  • PMID: 15921163
Case Reports

A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2)

Guillermo Martin et al. Hemoglobin. 2005.

Abstract

We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional alpha-thalassemia (thal) mutation localized on the alpha2-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 alpha-thal, was named Hb Plasencia [alpha125(H8)Leu --> Arg (alpha2)] after the place of residence of the affected family.

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