Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man
- 11 January 2011
- journal article
- case report
- Published by Wiley in European Journal of Haematology
- Vol. 86 (3), 260-264
- https://doi.org/10.1111/j.1600-0609.2010.01565.x
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.Keywords
This publication has 29 references indexed in Scilit:
- EASL clinical practice guidelines for HFE hemochromatosisJournal of Hepatology, 2010
- Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotesBlood Cells, Molecules, and Diseases, 2010
- Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE geneAnnals of Hematology, 2009
- Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?Annals of Hematology, 2008
- Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin diseaseBlood Cells, Molecules, and Diseases, 2006
- Genetic and clinical heterogeneity of ferroportin diseaseBritish Journal of Haematology, 2005
- The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotypeHuman Molecular Genetics, 2004
- Hereditary Hemochromatosis — A New Look at an Old DiseaseNew England Journal of Medicine, 2004
- HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotypeBlood, 2004
- The ferroportin diseaseBlood Cells, Molecules, and Diseases, 2004