Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.
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.
Bach
V
V
Servei de Genètica. Hospital de Sant Pau, Avda. Pare Claret 167. 08025 Barcelona, Spain.
Remacha
A
A
Altés
A
A
Barceló
M J
MJ
Molina
M A
MA
Baiget
M
M
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D025063:Chromosome Disorders / Q000235:genetics / Q000378:metabolism; D005260:Female; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D013030:Spain; D000098742:Ferroportin
D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D000098742:Ferroportin