What is hemochromatosis gene analysis?
Test Overview Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis, an inherited disorder that causes the body to absorb too much iron. The iron then builds up in the blood, liver, heart, pancreas, joints, skin, and other organs.
What does the hemochromatosis gene do?
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. These mutations are passed from parents to children. This type of hemochromatosis is by far the most common type.
What tests are used to diagnose hemochromatosis?
The blood tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests. Transferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps your doctor find out how much iron is in your body.
What are the expected lab findings in hemochromatosis?
Hemochromatosis Symptoms The disease is usually diagnosed as a result of family screening or after a blood test indicates a high level of iron or abnormal liver enzymes. Early signs are nonspecific and may include: Weakness and fatigue. Increased skin pigmentation.
Can hemochromatosis be cured?
There’s currently no cure for haemochromatosis, but there are treatments that can reduce the amount of iron in your body. This can help relieve some of the symptoms and reduce the risk of damage to organs such as the heart, liver and pancreas.
Is haemochromatosis a disability?
Genetic haemochromatosis qualifies as a disability under the Equality Act 2010. Under the Act, genetic haemochromatosis represents a protected characteristic – a “physical or mental impairment” which has “a substantial and long-term adverse effect” on someone’s “ability to carry out normal day-to-day activities”.
How long can u live with hemochromatosis?
Survival and causes of death were analyzed among 163 patients with hemochromatosis diagnosed between 1959 and 1983. Mean followup was 10.5 +/- 5.6 years (+/- SD). Cumulative survival was 76% at 10 years and 49% at 20 years.