Hb Plasencia [ α 125(H8)Leu→Arg ( α 2)] is a Frequent Cause of α + -Thalassemia in the Portuguese Population
Year: 2013
Type: article
Study design: Observational Study
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.
Source: Hemoglobin
Authors: Elizabete Cunha, Celeste Bento, Ana Oliveira, Luís Relvas, Joana Neves, Mariline Gameiro, Cristina Barros, Ana Araújo, Ana Macedo, Paula Rocha, Ricardo Costa, Tabita Maia, M. Letícia Ribeiro
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2009307397