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

• Autorzy: Neghina A-M , Anghel A , Sporea I , Popescu A , Neghina R , Collins A , Thorstensen K
• Języki publikacji: EN

Abstrakty

EN

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2009
• Tom: 50
• Numer: 2
• Opis fizyczny: p.173-176,ref.

Twórcy

autor

Neghina A-M

• Victor Babes University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania

autor

Anghel A

• Victor Babes University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania

autor

Sporea I

• Victor Babes University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania

autor

Popescu A

• Victor Babes University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania

autor

Neghina R

• Victor Babes University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania

autor

Collins A

• Department of Nutrition, Schoold of Medicine, University of Oslo, Norway

autor

Thorstensen K

• Department of Medical Biochemistry, St. Olavs Hospital, Trondheim, Norway

Bibliografia

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