HEMOCHROMATÓZAStanovení frekvence C282Y mutace pro populaci České republikya citlivá detekce hemochromatózy z Guthrie karet

Haemochromatosis. Frequency of the C282Y Mutation in Patientsof the Czech Republic

Background.
Hereditary haemochromatosis (HH) is a multi-organ disease characterized by increased depositionof iron in some tissues. When discovered early the disease is curable. The Caucasian population is burdened witha high incidency of carriers and homozygotes. The recent discovery of the gene for haemochromatosis (HFE) andof the major mutation C282Y makes direct diagnosis possible.Methods and Results. Exploiting a newly-designed polymerase chain reaction system, we determined thefrequency of the C282Y mutation of the HFE gene in the Czech population by analysis of 278 chromosomes fromanonymous clients of an in vitro fertilization centre (128 male and 150 female karyotypes respectively). There were14 heterozygotes of the C282Y mutation (6 males and 8 females) and no asymptomatic homozygotes. All 12 patientswith classically diagnosed haemochromatosis were homozygous for the C282Y mutation. Twelve Guthrie cards tenyears old were tested as a source of the PCR signal for C282Y with a positive result in all cases (100% efficiency).Conclusions. Our data suggest that the approximate frequency of heterozygotes (carriers) of hereditary haemoch-romatosis in the Czech population is 1 : 10 which is comparable with data from the Central European region. Thefrequency of the major mutation among patients with HH was 100 % (12/12), however, the difference with datafrom neighbouring countries (Austria, Germany) cannot be considered significant due to the small number of patientstested. We also showed the possibility of a retro-diagnosis of the presence/absence of C282Y mutation from Guthriecards.

Key words:
haemochromatosis, hereditary disease, major mutation, polymerase chain reaction, populationfrequency, Guthrie card.