Background. Hereditary haemochromatosis (HH) is a multi-organ disease characterized by increased deposition
of iron in some tissues. When discovered early the disease is curable. The Caucasian population is burdened with
a high incidency of carriers and homozygotes. The recent discovery of the gene for haemochromatosis (HFE) and
of the major mutation C282Y makes direct diagnosis possible.
Methods and Results. Exploiting a newly-designed polymerase chain reaction system, we determined the
frequency of the C282Y mutation of the HFE gene in the Czech population by analysis of 278 chromosomes from
anonymous clients of an in vitro fertilization centre (128 male and 150 female karyotypes respectively). There were
14 heterozygotes of the C282Y mutation (6 males and 8 females) and no asymptomatic homozygotes. All 12 patients
with classically diagnosed haemochromatosis were homozygous for the C282Y mutation. Twelve Guthrie cards ten
years 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. The
frequency of the major mutation among patients with HH was 100 % (12/12), however, the difference with data
from neighbouring countries (Austria, Germany) cannot be considered significant due to the small number of patients
tested. We also showed the possibility of a retro-diagnosis of the presence/absence of C282Y mutation from Guthrie
haemochromatosis, hereditary disease, major mutation, polymerase chain reaction, population
frequency, Guthrie card.