2025年1月9日 · Hemochromatosis (he-moe-kroe-muh-TOE-sis) is a condition that causes the body to absorb too much iron from food. Excess iron is stored in the organs, especially the liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.

2024年11月5日 · This study aims to characterize the evolution, impact on life expectancy, and initial prognostic factors in a modern series of patients with homozygous C282Y HH, homogeneously managed and closely followed up by the same medical team over three decades.

Of patients with clinically identified haemochromatosis 80%– 90% are homozygous for the C282Y mutation.8 The disease is characterised by increased iron deposition in the liver, heart, pancreas, and other organs, leading to liver cirrhosis, heart failure owing …

2008年1月17日 · Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation....

Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is frequent in northern Europe, where one in five to ten people are carriers.

The HFE mutation that most commonly causes hemochromatosis is called C282Y. Another HFE mutation that may lead to iron overload is called H63D . People with two copies of C282Y are most likely to have iron overload.

Type 1 hereditary hemochromatosis results from a genetic variation to the HFE gene on chromosome 6 and usually involves the C282Y and H63D alleles. Don’t worry. I’ll explain what all of that means in a moment.

There is a twofold increased risk of colorectal and breast cancers in people with hereditary hemochromatosis C282Y homozygosity.

Here's how readers responded to a You Make the Call question about managing a patient with the C282Y mutation and a family history of hemochromatosis.

Mutations in genes that control how the body absorbs iron cause primary hemochromatosis. The most common mutations are in the HFE genes and are called C282Y and H63D. The important HFE mutations are autosomal recessive, meaning that a person must inherit two copies of the HFE gene with the mutation to have hemochromatosis.