ArticleMedical science monitor : international medical journal of experimental and clinical research2011
Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.
Article in Medical science monitor : international medical journal of experimental and clinical research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 2 citations in OpenAlex.
- Article
- Telomere length and elevated iron: the influence of phenotype and HFE genotype.American journal of hematology · 2013Article
- Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.Medical science monitor : international medical journal of experimental and clinical research · 2012Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
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Abstract
backgroundHereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim of this study was to determine whether HFE mutations, C282Y, H63D, and S65C were correlated with clinical and biochemical parameters in Croatian patients with suspected HH. MATERIAL/
methodsClinical examination, biochemical analysis, and genotyping were performed in 175 patients suspected of having HH. The control group consisted of 350 healthy blood donors.
resultsAmong the patients, 20% had genotypes related to HH--7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C. The allelic frequencies were 14.6% for C282Y mutation, 23.7% for H63D mutation, and 1.4% for S65C mutation. A comparison of the clinical and laboratory profiles of patients revealed that C282Y homozygotes had higher frequencies of all clinical symptoms and higher levels of biochemical parameters than others. The C282Y/H63D compound heterozygotes and H63D homozygotes were found to be clinically important, despite the fact that they were associated with less severe disease.
conclusionsOur results show that HFE mutations are responsible for only about 20% of Croatian patients with suspected HH. Screening with biochemical methods and HFE genotyping may be not sufficient for diagnoses in the Croatian population.
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