What is HFE mutation?

What is HFE mutation?

Gene mutations that cause hemochromatosis

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 His63Asp?

Cys282YTyr and p. His63Asp mutation has been described as associated with a slight increase of serum transferrin saturation but without increase of serum ferritin in absence of comorbid factor 5. Therefore, further genetic testing should be performed if iron overload is ascertained.

How common is H63D mutation?

The presence of a single H63D mutation is an extremely common polymorphism, occurring in approximately 25% of a healthy population. Individuals with a heterozygous H63D genotype almost never develop HH. Approximately 2% of Caucasians have a homozygous H63D genotype.

What type of mutation is C282Y?

Many mutations in the body’s iron transport system can cause hemochromatosis; however, most cases are caused by mutations in the HFE gene. This is located on chromosome 6, and one mutation leads to the substitution of the 282nd amino acid. Cysteine becomes tyrosine, therefore the mutation is called C282Y.

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.

What level of ferritin is considered hemochromatosis?

Ferritin levels above 300 ng/mL in males and above 200 ng/mL in females support a diagnosis of hemochromatosis.

Can you inherit hemochromatosis from one parent?

What causes hereditary hemochromatosis? Hereditary hemochromatosis is most commonly caused by certain variants in the HFE gene. If you inherit two of these variants, one from each parent, you have hereditary hemochromatosis and are at risk for developing high iron levels.

What are the symptoms of H63D?

Hemochromatosis may not be recognized until later in life. Patients are usually asymptomatic but may present with a variety of signs and symptoms. These include: hyper-pigmented skin, hepatomegaly, arthralgia, diabetes mellitusand/or heart failure/arrhythmia.

What does the H63D mutation do?

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.

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.

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 …

What foods to avoid if you have hemochromatosis?

6 foods to avoid in a hemochromatosis diet

• Vitamin C-rich foods. Dr.
• Red meat in excess. Nutritionist Best says animal sources of protein, like beef, contain heme iron, which is more easily absorbed by the body.
• Raw fish and shellfish.
• Alcoholic beverages.
• Sugar.
• Iron-fortified foods.

Can you be a carrier of hemochromatosis?

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.

What can I drink to lower my iron?

Tea and coffee contain tannins, which are types of polyphenol plant compounds. The tannins in tea and coffee may reduce iron absorption. Drinking these beverages is another way for people with hemochromatosis to manage their iron levels.

What foods to avoid if iron is high?

What to avoid

• Red meat. Most red meats, including beef, lamb, and venison, are a rich source of heme iron.
• Raw shellfish. Shellfish, such as mussels, oysters, and clams, sometimes contain Vibrio vulnificus bacteria.
• Vitamin C. Vitamin C increases the absorption of nonheme iron.
• Fortified foods.
• Alcohol.

What should you not eat if you have hemochromatosis?

How can I lower my iron levels quickly?

Dietary changes can include:

1. avoiding supplements that contain iron.
2. avoiding supplements that contain vitamin C, as this vitamin increases iron absorption.
3. reducing iron-rich and iron-fortified foods.
4. avoiding uncooked fish and shellfish.
5. limiting alcohol intake, as this can damage the liver.