A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).
Hemoglobin
; 29(2): 113-7, 2005.
Article
em En
| MEDLINE
| ID: mdl-15921163
ABSTRACT
We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional alpha-thalassemia (thal) mutation localized on the alpha2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG --> CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional alpha-thal, was named Hb Plasencia [alpha125(H8)Leu --> Arg (alpha2)] after the place of residence of the affected family.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Globinas
/
Hemoglobinas Anormais
/
Mutação Puntual
/
Talassemia alfa
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article