Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man [artículo]
Por: Cuadrado Grande, Nuria [Instituto de Investigación i+12]
| Enríquez de Salamanca Lorente, Rafael [Instituto de Investigación i+12] | Méndez Alba, Manuel [Instituto de Investigación i+12] | Morán Jiménez, María Josefa [Instituto de Investigación i+12] | Moreno Carralero, María Isabel [Instituto de Investigación i+12].
Colaborador(es): Instituto de Investigación imas12.
Editor: European Journal of Haematology, 2011Descripción: 86(3):260-264.Recursos en línea: Solicitar documento Resumen: The most common form of hemochromatosis is caused by mutations in the HFE gene. Rare forms of the disease are caused by mutations in other genes. We present a patient with hyperferritinemia and iron overload, and facial flushing. Magnetic resonance imaging was performed to measure hepatic iron overload, and a molecular study of the genes involved in iron metabolism was undertaken. The iron overload was similar to that observed in HFE hemochromatosis, and the patient was double heterozygous for two novel mutations, c.-20G > A and c.718A > G (p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively. Hyperferritinemia and facial flushing improved after phlebotomy. Two of the patient's children were also studied, and the daughter was heterozygous for the mutation in the SLC40A1 gene, although she did not have hyperferritinemia. The patient presented a mild iron overload phenotype probably because of the two novel mutations in the HFE and SLC40A1 genes.
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Formato Vancouver:
Del-Castillo-Rueda A, Moreno-Carralero MI, Alvarez-Sala-Walther LA, Cuadrado-Grande N, Enríquez-de-Salamanca R, Méndez M, et al. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man. Eur J Haematol. 2011;86(3):260-4.
PMID: 21175851
Contiene 32 referencias
The most common form of hemochromatosis is caused by mutations in the HFE gene. Rare forms of the disease are caused by mutations in other genes. We present a patient with hyperferritinemia and iron overload, and facial flushing. Magnetic resonance imaging was performed to measure hepatic iron overload, and a molecular study of the genes involved in iron metabolism was undertaken. The iron overload was similar to that observed in HFE hemochromatosis, and the patient was double heterozygous for two novel mutations, c.-20G > A and c.718A > G (p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively. Hyperferritinemia and facial flushing improved after phlebotomy. Two of the patient's children were also studied, and the daughter was heterozygous for the mutation in the SLC40A1 gene, although she did not have hyperferritinemia. The patient presented a mild iron overload phenotype probably because of the two novel mutations in the HFE and SLC40A1 genes.
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