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Hemochromatosis is the most common genetic illness in people of Northern European descent. This autosomal recessive disorder of iron metabolism occurs with a frequency of approximately 0.5% in Caucasian populations (1). Hemochromatosis leads to organ failure due to iron accumulation and can be misdiagnosed as heart or liver disease. Serious complications include cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis and hypogonadotrophic hypogonadism (2–4). A cysteine to tyrosine amino acid substitution at codon 282 (C282Y), caused by a G to A transition at nucleotide position 845, is found on 85% to 100% of disease chromosomes from patients of northern European ancestry who meet well defined clinical criteria for iron overload (5–8). Another mutation (H63D) is created by a C to G transversion at nucleotide position 187. This substitution has an estimated penetrance between 0.44 and 1.5% of the homozygous C282Y genotype and is considered pathogenic only when inherited in trans with a C282Y mutation (compound heterozygous; 5–7). |
