Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection?

Abstract:

:It has been proposed that iron overload may adversely affect liver disease outcome. The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection. We investigated the prevalence of HFE mutations in 135 male patients with chronic HCV hepatitis, and correlated genotype distribution with different parameters of iron status and the activity and severity of liver disease. Of these 135 patients, 6 (4.4%) carried Cys282Tyr and 32 (23.7%) carried His63Asp, frequencies which were similar to those observed in healthy controls. Serum iron levels and transferrin saturation (but not ferritin levels or liver iron content) were significantly higher in carriers than in non-carriers of HFE mutations. No difference was observed in serum ALT, AST and GGT levels between carriers and non-carriers. Finally, scores for necroinflammatory activity and fibrosis in the liver were significantly higher in HFE carriers than in non-carriers. Patients with chronic HCV infection carrying HFE mutations tend to present more evident body iron accumulation and a higher degree of necroinflammatory activity and fibrosis in the liver. HFE gene mutations might be an additional factor to be considered among those implicated in the determination of a worse prognosis of the liver disease in chronic HCV infection.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

Martinelli AL,Franco RF,Villanova MG,Figueiredo JF,Secaf M,Tavella MH,Ramalho LN,Zucoloto S,Zago MA

doi

10.1159/000040991

subject

Has Abstract

pub_date

2000-01-01 00:00:00

pages

152-6

issue

3

eissn

0001-5792

issn

1421-9662

pii

40991

journal_volume

102

pub_type

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