Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
Haematologica
; 92(3): 421-2, 2007 Mar.
Article
en En
| MEDLINE
| ID: mdl-17339196
ABSTRACT
During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE. The possibility of detecting juvenile hemochromatosis before the onset of clinical manifestations raises questions about the management of such young children in order to prevent iron overload.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mutación Puntual
/
Sustitución de Aminoácidos
/
Mutación Missense
/
Proteínas Mutantes
/
Hemocromatosis
/
Proteínas de la Membrana
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Haematologica
Año:
2007
Tipo del documento:
Article