Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors

Alanen, Kenneth W.; Chakrabarti, Subrata; Rawlins, Jenna J.; Howson, William; Jeffrey, Gary P.; Adams, Paul C.

doi:10.1002/hep.510300308

Cited by 26 publications

(12 citation statements)

References 31 publications

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“…1 Current opinion, which favours the intestine as the exclusive site of the defect in hereditary haemochromatosis (HH) and the requirement for homozygous HFE mutations at this site, has provided reassurance that iron overload should not occur. In addition, the only study to investigate the safety of C282Y heterozygous liver transplantation did not find a survival difference between patients transplanted with C282Y heterozygous livers and patients transplanted with normal livers.…”

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confidence: 99%

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

Wigg

Harley²,

Casey³

2003

Gut

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confidence: 99%

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

Wigg

Harley²,

Casey³

2003

Gut

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“…13,14 The HFE gene product is a cell membrane-bound human leucocyte antigen (HLA) class I-like molecule that requires ␤ 2 microglobulin for intracellular transport and cell surface expression. 12,15 There is increasing evidence that iron overload complicating endstage liver disease is often not associated with the common HFE mutations [16][17][18] and no mutations in the ␤ 2 microglobulin gene have as yet been identified in patients with non-HFE hemochromatosis. 19 However, it is possible that reduced ␤ 2 microglobulin synthesis in end-stage liver disease may contribute to iron overload in cirrhosis.…”

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confidence: 99%

Increased hepatic iron and cirrhosis: No evidence for an adverse effect on patient outcome following liver transplantation

et al. 2000

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It has been suggested that preexisting severe hepatic iron overload may adversely affect outcome after liver transplantation. The pathogenesis of iron overload in cirrhosis in the absence of hemochromatosis gene (HFE) mutations is poorly understood. The relationships between liver disease severity and etiology, degree of hepatic iron overload, and post-liver transplantation outcome were studied in 282 consecutive adult patients with cirrhosis. Thirty-seven percent of patients had stainable hepatic iron. Increased hepatic iron concentration was significantly associated with more severe liver disease (P<.001), male sex (P = .05), the presence of spur cell anemia (P<.0001), and hepatocellular liver disease (P<.0001). The HFE mutations were uncommon in patients with increased hepatic iron stores. Increased hepatic iron concentration was not associated with greater utilization of resources or a lower survival after liver transplantation. Child-Pugh score at the time of liver transplantation was the only independent variable affecting patient survival (P = .0008). In summary, our data suggest that the severity of the liver disease rather than hepatic iron concentration is the most important determinant of outcome after liver transplantation and that, in general, increasing hepatic iron concentration in cirrhosis is a surrogate marker of the severity of the underlying liver disease.

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“…It is unclear whether the presence of HFE gene mutations affects the progression of chronic liver disease. In general, C282Y heterozygotes are not at increased risk of developing end-stage liver disease (37), but carriers may be at greater risk to develop alcoholic liver diseases or nonalcoholic steatohepatitis (38,39). The data in patients with chronic hepatitis C are conflicting (22,40).…”

Section: Discussionmentioning

confidence: 99%

Mutations of the HFE gene in patients with hepatocellular carcinoma

Cauza¹,

Peck‐Radosavljevic²,

Ulrich‐Pur³

et al. 2003

Am J Gastroenterology

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OBJECTIVE: Hepatocellular carcinoma (HCC) is a late consequence of severe liver disease. Patients with genetic hemochromatosis may be at risk for HCC, but limited information is available on the relationship of HCC and heterozygosity for the HFE gene mutations. METHODS:HFE mutations (C282Y and H63D) were assessed in 162 consecutive patients (131 men/31 women) with HCC. A total of 159 patients had cirrhosis. The most common etiologies of cirrhosis were chronic viral hepatitis (hepatitis C 39%, hepatitis B 9%) and alcoholic liver disease (36%). RESULTS:Five patients were C282Y homozygotes, four C282Y/H63D compound heterozygotes, and three H63D homozygotes. The C282Y and H63D allele frequencies in HCC were 8.3 (95% confidence limit ϭ 5.3-11.3) and 11.1 (7.8 -14.6), respectively, and not different from previously published data in healthy subjects or patients with chronic hepatitis C in Austria. Furthermore, there was no difference in the age at diagnosis in patients with or without HFE gene mutations. C282Y homozygotes had a 19-fold increased risk to develop HCC. In contrast, all other HFE allele constellations were not associated with such a risk. CONCLUSIONS:Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis. (Am J Gastroenterol 2003;98:442-447.

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Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors

Cited by 26 publications

References 31 publications

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

Increased hepatic iron and cirrhosis: No evidence for an adverse effect on patient outcome following liver transplantation

Mutations of the HFE gene in patients with hepatocellular carcinoma

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