Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man
Alejandro del-Castillo-Rueda
Unidad de Ferropatología, Departamento de Medicina Interna, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense
Search for more papers by this authorMaría-Isabel Moreno-Carralero
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorLuis-Antonio Álvarez-Sala-Walther
Unidad de Ferropatología, Departamento de Medicina Interna, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense
Search for more papers by this authorNuria Cuadrado-Grande
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorRafael Enríquez-de-Salamanca
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorManuel Méndez
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorMaría-Josefa Morán-Jiménez
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorAlejandro del-Castillo-Rueda
Unidad de Ferropatología, Departamento de Medicina Interna, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense
Search for more papers by this authorMaría-Isabel Moreno-Carralero
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorLuis-Antonio Álvarez-Sala-Walther
Unidad de Ferropatología, Departamento de Medicina Interna, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense
Search for more papers by this authorNuria Cuadrado-Grande
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorRafael Enríquez-de-Salamanca
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorManuel Méndez
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorMaría-Josefa Morán-Jiménez
Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain
Search for more papers by this authorAbstract
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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