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