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Frequency of mutations related to hereditary haemochromatosis in northwestern Poland

100%

Raszeja-Wyszomirska J., Kurzawski G., Suchy J., Zawada I., Lubinski J., Milkiewicz P.

Journal of Applied Genetics

2008

vol. 49

issue 1

105-107

Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene. In Europe, frequencies of these mutations are the highest in Northern European countries and gradually decrease southwards. We analysed the prevalence of HFE mutations in 1517 DNA samples, including 1000 samples from the general population (subjects registered at general practitioner practices) in northwestern Poland, and 517 samples of cord blood from the same region. We identified 2 (0.13%) homozygotes and 117 (7.8%) heterozygotes for the C282Y mutation. As regards the H63D mutation (1505 DNA samples analysed), 38 (2.5%) samples were homozygotes and 380 (25%) were heterozygotes. Twenty-one (1.4%) compound heterozygotes were found. These results correspond well with data from other Central European countries and seem to confirm the hypothesis of North-South spread of the C282Y mutation.

Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania

70%

Neghina A.-M., Anghel A., Sporea I., Popescu A., Neghina R., Collins A., Thorstensen K.

Journal of Applied Genetics

2009

vol. 50

issue 2

173-176

The present study aimed at assessing the frequency of HFE mutations (C282Y, H63D and S65C) in western Romanian patients with liver disease of diverse aetiologies suspected of iron overload. A total of 21 patients, all Romanian residents hospitalized with clinical suspicion of iron overload and liver disease, were assayed for C282Y, H63D and S65C mutations, serum ferritin and viral hepatitis markers. Overall, 9 out of the 21 patients (42.86%) were found to harbour mutations in the HFE gene: 4 homozygotes C282Y (19.0%), 1 compound heterozygote C282Y/H63D (4.8%), 1 single heterozygote C282Y (4.8%), 2 single heterozygotes H63D (9.5%), 1 single heterozygote S65C (4.8%), and 12 wild-type cases (57.1%). Among the subgroup of 10 patients with the most prominent signs of iron overload (hyperferritinaemia and/or hepatocyte iron score 1), without hepatocellular carcinoma, the HFE genotypes were conclusive in 5 cases (50%). They had significantly increased ferritin levels compared to wild-type cases (P = 0.029). The inclusion of iron studies during routine clinical visits, coupled with the availability of HFE genotyping for family and population studies, should facilitate the early detection of hereditary haemochromatosis in Romania.

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2 Journal of Applied Genetics

1 2009

1 2008

1 Anghel A.

1 Collins A.

1 Kurzawski G.

1 Lubinski J.

1 Milkiewicz P.

1 Neghina A.-M.

1 Neghina R.

1 Popescu A.

1 Raszeja-Wyszomirska J.

1 Sporea I.

1 Suchy J.

1 Thorstensen K.

1 Zawada I.

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Frequency of mutations related to hereditary haemochromatosis in northwestern Poland

Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania