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

• Authors: A.-M. Neghina , A. Anghel , I. Sporea , A. Popescu , R. Neghina , A. Collins , K. Thorstensen
• Languages of publication: EN

Abstracts

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.

Keywords

EN

FERRITIN; HAEMOCHROMATOSIS; HFE GENOTYPE; LIVER DISEASE; ROMANIA

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2009
• Volume: 50
• Issue: 2
• Pages: 173-176

Contributors

author

A.-M. Neghina

author

A. Anghel

author

I. Sporea

author

A. Popescu

author

R. Neghina

author

A. Collins

author

K. Thorstensen

• Document Type: ARTICLE
• Publication order reference: A-M. Neghina, Victor Babes University of Medicine and Pharmacy, Department of Biochemistry, 2 Eftimie Murgu Square, 300041 Timisoara, Romania