Hereditary hemochromatosis is a group of hereditary conditions that cause your body to absorb too much iron. They’re usually treated by regularly removing blood to reduce iron levels.
People with hemochromatosis can have excessive iron buildup in organs such as their:
- pituitary gland
The buildup of iron in these organs can lead to many serious issues such as liver damage or heart conditions. With prompt and regular treatment, many of these problems can be avoided.
Read on to learn more about hereditary hemochromatosis including symptoms, treatment options, and the outlook for someone with this condition.
Doctors divide hereditary hemochromatosis into four types:
- Type I (classic): Type I hereditary hemochromatosis is a recessive condition caused by mutations in the
HFEgene. Symptoms usually begin between 40 and 60in men and after menopause in women.
- Type II (juvenile): Juvenile hereditary hemochromatosis is usually first seen
before the age of 30. It’s a recessive condition caused by mutations in the HAMP or HJVgenes.
- Type III (TFR2-related): TFR2-related hereditary hemochromatosis is a recessive condition caused by mutations in the TFR2 gene. Most people develop symptoms in their
- Type IV (ferroportin disease): Ferroportin disease is a dominant condition caused by changes in the SLC40A1 gene. People are usually diagnosed when they’re middle aged, and women often develop symptoms about 10 years later than men.
What’s the difference between primary and secondary hemochromatosis?
Primary hemochromatosis is caused by genes inherited from your parents. Secondary hemochromatosis has another identifiable underlying cause, such as excessive iron in your diet or multiple blood transfusions.
Most people with hereditary hemochromatosis never develop symptoms. According to the
- joint pain
- unintentional weight loss
- bronze or gray skin color
- abdominal pain
- loss of sex drive
If left untreated, hereditary hemochromatosis can cause
Hereditary hemochromatosis is caused by genes passed to you by your parents. Type I–III hereditary hemochromatosis are caused by recessive gene mutations, meaning you need to receive an associated gene from both parents to develop the disease.
Ferroportin disease is caused by a dominant gene mutation, meaning it develops even if you only receive the mutation from one parent.
In the United States, non-Hispanic White individuals are at the highest risk of hereditary hemochromatosis. They have about a
According to the
Doctors usually start the diagnostic process by:
- reviewing your personal and family medical history
- asking you about your symptoms
- performing a physical examination, where they’ll look for:
If your doctor suspects that you may have hemochromatosis, they’ll likely order
- levels of iron
- levels of the protein that carries iron in your blood (transferrin)
- ratio of iron to transferrin
- levels of the protein that stores iron in your liver (ferritin)
- liver function
- fasting blood sugar
Doctors can also use a blood test to look for gene mutations associated with hereditary hemochromatosis.
A liver biopsy may be necessary in some cases to confirm that you have too much iron in your body and rule out other liver disease.
Without treatment, iron can build up in your organs and can cause permanent organ damage.
The main treatment for hereditary hemochromatosis is phlebotomy to reduce iron levels in your body. Phlebotomy is the medical term for removing blood. Usually doctors recommend starting with having a pint of blood removed
As your iron levels improve, you can decrease the frequency that you receive your transfusions. You may eventually be able to reduce them to 2–3 times per year.
Phlebotomy is sometimes combined with the medication erythropoietin to stimulate the production of new red blood cells.
If hereditary hemochromatosis is
Higher levels of liver scarring is the
You may be able to prevent organ damage by:
strictly avoidingalcohol to reduce liver and pancreatic damage
- taking steps to prevent infections such as avoiding uncooked fish and shellfish and receiving vaccinations
- avoiding medications and supplements that are harmful to the liver
- having regular liver ultrasounds and blood tests for tumor markers
- receiving regular blood tests to check your ferritin (iron stores) levels
Hereditary hemochromatosis is a genetic condition that causes the buildup of iron in your body. It’s important to receive a diagnosis and treatment as soon as possible to avoid organ damage.
If hemochromatosis is well managed, many people can live full lives without serious problems. Without treatment, people tend to have a poor outlook.