What does C282Y mean?

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.

What does the C282Y mutation do?

The C282Y mutation disrupts an intramolecular disulfide bond, and may interfere with β2-microglobulin binding. 2Mice deficient in β2-microglobulin and mice deficient in Hfe both develop systemic iron overload.

What is the H63D mutation?

The homozygous H63D variant is an indicator of the iron metabolism disorder hemochromatosis, which may increase the risk of developing a fatty liver. In patients with a cirrhotic liver, the mutation can increase the rate of liver cancer.

What is S65C mutation?

A third mutation in the HFE gene, S65C, was found to be enriched on chromosomes from French HH patients compared with healthy controls. 12. However, its clinical importance remains controversial as the S65C variant was found not to be associated with increased Tf saturation in healthy Canadian blood donors.

Can hereditary hemochromatosis skip a generation?

You’re only at risk of haemochromatosis if you inherit the faulty HFE gene from both of your parents. If you only inherit the faulty gene from 1 parent, you’ll be at risk of passing it on to your children – known as being a “carrier” – but you will not develop haemochromatosis yourself.

How rare is H63D mutation?

The HEIRS study (18) examined a primary care population of 99,711 individuals. Within the Caucasian population of this group, 0.44% were homozygous for the C282Y mutation and 2.4% were homozygous for the H63D mutation (18).

How long does it take to get results from genetic testing for hemochromatosis?

This will check for the common gene variants of genetic haemochromatosis (known as c282y and H63d). The genetic test will show if you have genetic haemochromatosis or not. For a genetic test you will be asked to give a small blood sample. You will receive the results of this test within 4-6 weeks.

What is phenotypic HH?

The classic HH phenotype includes abnormal biochemical markers and features such as arthropathy involving the second and third metacarpophalangeal joint, skin hyperpigmentation, diabetes, liver fibrosis, cirrhosis, and hepatocellular carcinoma.

Can I get disability for hemochromatosis?

Hemochromatosis is listed in the Social Security Administration’s (SSA) Blue Book (the impairment listing manual) as one of the conditions that may potentially qualify a claimant for Social Security Disability Insurance or Supplemental Security Income.

What does HFE code for?

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.

What ferritin level is hemochromatosis?

Ferritin levels greater than 300 ng/mL in men and 200 ng/mL in women support a diagnosis of hemochromatosis.