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- Title
Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.
- Authors
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
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.
- Publication
Hemoglobin, 2013, Vol 37, Issue 2, p183
- ISSN
1532-432X
- Publication type
Journal Article
- DOI
10.3109/03630269.2013.763822