Recognition and management of hereditary hemochromatosis.

Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. It is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs. Previously, the classic description was combined diabetes mellitus, cutaneous hyperpigmentation and cirrhosis.

Prevalence and clinical significance of HFE gene mutations in patients with iron overload.

Objective: The HFE gene contains two mutant alleles; C282Y and H63D. The C282Y mutation occurs in 55-100% of patients with hereditary hemochromatosis. The aim of our study was to re-examine the frequencies of the C282Y and H63D mutations in patients with mild and marked iron overload and in normal subjects.

Hemosiderosis in cirrhosis: a study of 447 native livers.

Background & Aims: Hemosiderosis may have a detrimental effect on some chronic liver diseases. The aim of this study was to determine the prevalence and diagnostic implications of hemosiderosis in cirrhosis.

Methods: Tissue iron in 447 cirrhotic livers was studied histologically and chemically.

The combination of ursodeoxycholic acid and methotrexate for patients with primary biliary cirrhosis: the results of a pilot study.

Ursodeoxycholic acid (UDCA) and methotrexate (MTX) have both been proposed as treatments for patients with primary biliary cirrhosis (PBC). It has been suggested that a combination of the two drugs may offer advantages over either used separately. In this pilot study, we sought to evaluate the safety and efficacy of this combination for patients with PBC.

Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients.

Background/aims: Current emphasis in hemochromatosis has focused on early detection and treatment to prevent permanent liver damage and hepatocellular carcinoma. Thus far, only normal population and high-risk groups have been screened but not patients seeking medical care.

Methods: Serum iron levels were determined in consecutive fasting blood samples collected in the morning from 12,258 Mayo Clinic patients.