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.

Download full-text PDF

Source
http://dx.doi.org/10.3109/03630269.2013.763822DOI Listing

Publication Analysis

Top Keywords

plasencia
4
plasencia [α125h8leu→arg
4
[α125h8leu→arg α2]
4
α2] frequent
4
frequent α+-thalassemia
4
α+-thalassemia portuguese
4
portuguese population
4
population plasencia
4
plasencia thalassemic
4
thalassemic hemoglobin
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!