[The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis].
BACKGROUND
Hemochromatosis is a hereditary disease the diagnosis and early therapy of which is particularly relevant to prevent the appearance of complications. In 1996, the gene responsible for this condition was identified and was named HFE.


OBJECTIVE
To determine the prevalence of Cys282Tyr (C282Y) and His63Asp (H63D) mutations in the HFE gene in a group of patients with the confirmed diagnosis of hereditary hemochromatosis, as well as in a control group of 174 healthy individuals.


METHODS
Twenty-two patients with the diagnosis of primary hemochromatosis who were on treatment with periodic phlebotomies were studied. All patients had the following parameters measured: serum iron, ferritin, transferrin saturation, serology for hepatitis viruses B and C, liver function tests, abdominal echography and liver biopsy. A control group of 174 healthy individuals, who had their serotype analyzed, was also studied.


RESULTS
Eighteen (81.8%) of patients with hemochromatosis were homozygous for the C282Y mutation. One patient was homozygous for the H63D mutation and in other patient no mutation was found. Among individuals in the control group, the allelic frequency of the C282Y mutation was 2.3%, whereas the allelic frequency of the H63D mutation was 19.8%.


CONCLUSIONS
The results obtained in our study support the evident association between the C282Y mutation in the HFE gene and hereditary hemochromatosis in our environment.
Moreno
L
L
Servicio de Gastroenterología, Hospital Ramón y Cajal, Madrid.
Vallcorba
P
P
Boixeda
D
D
Cabello
P
P
Bermejo
F
F
San Román
C
C
D000483:Alleles; D001706:Biopsy; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins
Utilidad de la detección de las mutaciones Cys282Tyr e His63Asp en el diagnóstico de la hemocromatosis hereditaria.