Archive for the ‘Hemochromatosis’ Category

Prevalence of life-threatening complications

Prevalence of life-threatening complicationsThe prevalence of cirrhosis, hepatocellular carcinoma, congestive heart failure and diabetes in treated probands and discovered family members is shown in Table 1. Cirrhosis was less frequent in discovered cases than in proband cases; however, liver biopsies were performed less frequently in discovered cases. The prevalence of cirrhosis may […]

HFE geneThe attribution of clinical symptoms in hemochromatosis has been difficult. For example, in a survey conducted during a study of arthralgia in patients with hemochromatosis, in women older than 60 years of age, more joint complaints were reported in the control population than in the patients with hemochromatosis. Fatigue […]

HFE geneNonexpressing homozygotes comprise only 6% of the C282Y homozygotes evaluated at the London Health Science Centre, but seven of 16 (44%) homozygous subjects in our population screening study showed no expression. Although voluntary blood donation may have contributed to the higher number of nonexpressing homozygotes in this study, none of […]

HFE geneBefore the availability of genetic testing, nonexpressing C282Y homozygotes were identified when an HLA-identi-cal sibling of a proband was discovered without iron overload. Genetic recombination was postulated in many of these cases, but it has been rare to demonstrate any conclusive recombinations between the HLA locus and the HFE […]

DISCUSSIONSince our study in 1991, the number of asymptomatic and younger patients with hereditary hemochromatosis has increased. C282Y homozygotes with a serum ferritin concentration less than 1000 pg/L and normal aspartate aminotransferase levels, and without hepatomegaly were not biopsied in the present study. Previous studies from our centre London Health Science Centre […]

DISCUSSIONIn the present study, 277 C282Y homozygotes were followed for up to 44 years. This study differed from previous survival studies of patients with hemochromatosis, in that only C282Y homozygotes were included. The study also included nonexpressing C282Y homozygotes without evidence of iron overload. As a result of this selection of […]

Cumulative survival

HFE geneThe cumulative survival rates of the entire group of C282Y homozygotes were 95% at five years, 93% at 10 years and 66% at 20 years. The rate of survival was lower in diabetic than in nondiabetic patients, and lower in cirrhotic than in noncirrhotic patients (P<0.05, log […]

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