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

Authors :
Cunha E
Bento C
Oliveira A
Relvas L
Neves J
Gameiro M
Barros C
Araújo A
Macedo A
Rocha P
Costa R
Maia T
Ribeiro ML
Source :
Hemoglobin [Hemoglobin] 2013; Vol. 37 (2), pp. 183-7. Date of Electronic Publication: 2013 Jan 31.
Publication Year :
2013

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.

Details

Language :
English
ISSN :
1532-432X
Volume :
37
Issue :
2
Database :
MEDLINE
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
23368878
Full Text :
https://doi.org/10.3109/03630269.2013.763822