Skip to main content
padlock icon - secure page this page is secure

Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

Buy Article:

$59.00 + tax (Refund Policy)

Abstract

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.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: HFE; SLC40A1; ferroportin hemochromatosis; hereditary iron overload

Document Type: Research Article

Affiliations: 1: Unidad de Ferropatología, Departamento de Medicina Interna, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense 2: Centro de Investigación, Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain

Publication date: March 1, 2011

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more