The S65C mutation in Spain. Implications for iron overload screening.
Hereditary hemochromatosis is related to mutations of the  HFE gene. The role of the S65C mutation of this gene was  evaluated in a Spanish population, consisting of 100  controls and 41 patients who had resulted positive to  screening for iron overload. Only one patient was  heterozygous for the S65C mutation, so the S65C mutation  is infrequent in our area. Nevertheless, it is advisable to  search for this mutation in cases with iron overload and  heterozygosity for the C282Y or H63D mutations of the HFE  gene.
Remacha
A F
AF
Barceló
M J
MJ
Sardà
M P
MP
Blesa
I
I
Altés
A
A
Baiget
M
M
D016022:Case-Control Studies; D005820:Genetic Testing; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D008565:Membrane Proteins; D017354:Point Mutation; D013030:Spain / Q000453:epidemiology
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins