Hb Plasencia [α125(H8)Leu→Arg (α2)] is a Frequent Cause of α⁺-Thalassemia in the Portuguese Population

Abstract

Hb Plasencia is a thalassemic hemoglobin (Hb) mutation caused by a leucine to arginine replacement at residue 125 of the α2-globin chain (HBA2:c.377T>G). This variant was first described in the heterozygous state in association with a very mild α-thalassemic phenotype in three members of a Spanish family from Plasencia, Western Spain. Reviewing the molecular characterization of 308 Portuguese individual suspected of having α-thalassemia (α-thal) we found Hb Plasencia to be the second most frequent mutation after the –α^3.7 deletion.

• Hb Plasencia
• Thalassemic hemoglobin (Hb)
• α⁺-Thalassemia (α⁺-thal)

ACKNOWLEDGMENTS

This study was supported by Fórum Hematológico do Centro Hospitalar de Coimbra, Coimbra, Portugal.

Declaration of Interest:

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.