Study of three families with Hb Agrinio [α29(B10)LeuâPro, CTG>CCG (α2)] in the Spanish population: three homozygous cases.
Hemoglobin
; 36(6): 526-32, 2012.
Article
em En
| MEDLINE
| ID: mdl-23094635
ABSTRACT
Most α-thalassemia (α-thal) mechanisms are deletions of one or both α-globin genes and less than 5.0-10.0% are point mutations. Hb Agrinio [α29(B10)LeuâPro, CTG>CCG (α2)] is a hyperunstable α chain structural variant in which the thalassemic phenotype is determined by a post translational precipitation of the structurally anomalous chain in erythroid precursors. This study involved 14 cases with Hb Agrinio from three families. Selective sequencing of the α2 gene showed a CTG(Leu)>CCG(Pro) mutation at codon 29. The mutation was found in a heterozygous state in 11 cases and in a homozygous state in three cases. These are the first cases with Hb Agrinio described in Spain. In all cases where a leucine is exchanged for a proline, an unstable hemoglobin (Hb) will occur both in the α and the ß chain. Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Códon
/
Hemoglobinas Anormais
/
Substituição de Aminoácidos
/
População Branca
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Espanha