Article
Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.
Hemoglobin - 1 Jan 2013
Cunha Elizabete, Bento Celeste, Oliveira Ana, Relvas Luís, Neves Joana, Gameiro Mariline, Barros Cristina, Araújo Ana, Macedo Ana, Rocha Paula, Costa Ricardo, Maia Tabita, Ribeiro M Letícia
Abstract excerpt
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...
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