What is HFE gene mutation?
A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
What is HFE gene mutation test?
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 HFE gene code for?
HFE (Homeostatic Iron Regulator) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis, Type 1 and Microvascular Complications Of Diabetes 7. Among its related pathways are Insulin receptor recycling and Hfe effect on hepcidin production.
What is HFE disease?
Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. Early diagnosis and treatment is critical to prevent complications from the disorder. If you have a family health history of hemochromatosis, talk to your doctor about testing for hereditary hemochromatosis.
What are warning signs of hemochromatosis?
Symptoms of hemochromatosis include:
- Pain in your joints, especially your knuckles.
- Feeling tired.
- Unexplained weight loss.
- Skin that has a bronze or gray color.
- Pain in your belly.
- Loss of sex drive.
- Loss of body hair.
- Heart flutter.
What are the 3 types of hemochromatosis?
Hemochromatosis has been separated into four distinct disorders – hereditary (classic) hemochromatosis, also known as HFE-related hemochromatosis or hemochromatosis type I, hemochromatosis type 2 (juvenile hemochromatosis), hemochromatosis type 3, also known as TFR-related hemochromatosis; and hemochromatosis type 4.
Does a carrier of hemochromatosis have symptoms?
Common symptoms include abdominal pain, weakness, lethargy, and unintended weight loss. Without treatment, classic hereditary hemochromatosis can progress to cause serious, life-threatening complications including failure of affected organs.
How common is it to be a carrier of hemochromatosis?
As it is an inherited disorder, people with hereditary haemochromatosis carry two faulty genes – one from each parent. A person with one faulty gene is a ‘carrier’ and won’t develop the condition themselves. One in seven people carry the condition, and it is equally likely in men and women.
What types of mutations in the HFE gene cause disease?
Researchers have identified more than 100 mutations in the HFE gene that cause type 1 hemochromatosis, a form of hereditary hemochromatosis that begins during adulthood. Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet.
How common is hereditary hemochromatosis?
Hereditary hemochromatosis affects one in 300 people in the United States. However, it often goes undiagnosed, partially due to its nonspecific symptoms. The classic form of hemochromatosis is most common in Caucasians of Northern European descent. It is a genetic disease that may be found in families.
What are the stages of hemochromatosis?
There are four main categories of pathophysiological mechanisms of HH that should be mentioned: (1) the increased absorption of dietary iron in the upper intestine, (2) decreased expression of the iron-regulatory hormone hepcidin, (3) the altered function of HFE protein, and (4) tissue injury and fibrogenesis induced …
How long does it take for hemochromatosis to cause liver damage?
Symptoms. The liver begins to retain iron at birth, but it may take 20 to 30 years before symptoms manifest themselves.