Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain

V Bach; A Remacha; A Altés; M J Barceló; M A Molina; M Baiget

doi:10.1016/j.bcmd.2005.09.001

Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain

Blood Cells Mol Dis. 2006 Jan-Feb;36(1):41-5. doi: 10.1016/j.bcmd.2005.09.001. Epub 2005 Oct 27.

Authors

V Bach¹, A Remacha, A Altés, M J Barceló, M A Molina, M Baiget

Affiliation

¹ Servei de Genètica. Hospital de Sant Pau, Avda. Pare Claret 167. 08025 Barcelona, Spain.

PMID: 16257244
DOI: 10.1016/j.bcmd.2005.09.001

Abstract

Hereditary hemochromatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by other genetic mutations including those in the SLC40A1 gene. This report describes the clinical and laboratory findings of two Spanish families with autosomal dominant iron overload associated with previously unrecognized Ferroportin 1 mutations (p.R88T and p.I180T). The phenotype of iron overload in the patients carrying these mutations could correspond to the group of clinical mutations that lose their iron export function.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Amino Acid Substitution*
Cation Transport Proteins / genetics*
Cation Transport Proteins / metabolism
Chromosome Disorders / genetics
Chromosome Disorders / metabolism
Female
Hemochromatosis / genetics*
Hemochromatosis / metabolism
Hemochromatosis Protein
Histocompatibility Antigens Class I / genetics
Histocompatibility Antigens Class I / metabolism
Humans
Male
Membrane Proteins / genetics
Membrane Proteins / metabolism
Middle Aged
Pedigree
Point Mutation*
Spain

Substances

Cation Transport Proteins
HFE protein, human
Hemochromatosis Protein
Histocompatibility Antigens Class I
Membrane Proteins
metal transporting protein 1