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Hemoglobin. 2013;37(2):183-7. doi: 10.3109/03630269.2013.763822. Epub 2013 Jan 31.

Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.

Author information

1
Centro Hospitalar e Universitário de Coimbra, EPE, Serviço de Hematologia, Coimbra, Portugal.

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.

PMID:
23368878
DOI:
10.3109/03630269.2013.763822
[Indexed for MEDLINE]

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