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

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 Spanis...

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Bibliographic Details
Published in:Hemoglobin 2013-01, Vol.37 (2), p.183-187
Main 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
Format: Article
Language:English
Subjects:
alpha-Globins - genetics
alpha-Thalassemia - diagnosis
alpha-Thalassemia - genetics
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Genetic Testing
Hb Plasencia
Hemoglobins, Abnormal - genetics
Humans
Mutation
Polymerase Chain Reaction
Portugal
thal
Thalassemia (α
Thalassemic hemoglobin (Hb)
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Summary: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 -α3.7 deletion.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630269.2013.763822