Hemochromatosis is when there is an excessive accumulation of iron in the body. Different types include primary, secondary, and neonatal hemochromatosis.
Hemochromatosis describes when excess iron builds up in the body to harmful levels.
While iron is important for health, an iron overload can damage many parts of the body. This can include the liver, heart, pancreas, endocrine glands, and joints.
Health experts may categorize hemochromatosis into three main types: primary, secondary, and neonatal.
Primary occurs as a result of genetic alterations. Secondary is usually the result of another disease or condition. Neonatal is a rare type that occurs following liver injury of a fetus in the womb.
This article explains the types of hemochromatosis and their causes, symptoms, and treatments.
Health experts can classify hemochromatosis into three types depending on how they develop.
Primary hemochromatosis
Doctors may also refer to primary hemochromatosis as hereditary or inherited hemochromatosis. This is because it occurs due to genetic variations that a person inherits from their parents.
There are four types of primary hemochromatosis. They differ depending on the age of onset, genetic cause, and inheritance pattern.
The types of primary hemochromatosis include:
- Type 1: This is the most common type. It begins in adulthood. Males may develop symptoms at 40–60 years old. Symptoms may develop in females after menopause.
- Type 2: This type is also known as juvenile-onset disorder because symptoms often begin in childhood. It may affect the secretion of sex hormones and affect puberty.
- Type 3: This type is usually intermediate between types 1 and 2. Symptoms often occur before age 30.
- Type 4: Also known as ferroportin disease, this type also begins in adulthood.
Secondary hemochromatosis
This type of hemochromatosis occurs due to
Dietary patterns, conditions that involve blood transfusions, or medications that increase iron absorption may all cause it.
Neonatal hemochromatosis
This is a rare type of hemochromatosis. According to Stanford Medicine, it affects fewer than 1 in 1 million pregnancies.
Neonatal hemochromatosis occurs from injury to the liver in a developing fetus. As such, the mechanism of this type differs from hemochromatosis in adults.
The causes of hemochromatosis vary depending on the type.
Primary hemochromatosis
Primary hemochromatosis occurs due to a person inheriting a gene alteration.
For example, type 1 primary hemochromatosis is the most common type. It develops from a variation in the HFE gene.
This gene produces a protein important for regulating iron levels. When this protein does not function correctly, it can lead to a harmful iron buildup.
Other gene alterations that can play a role in the development of primary hemochromatosis include the C282Y, H63D, and S65C variants.
As such, people with immediate relatives who have primary hemochromatosis are at a higher risk of developing the condition.
According to the American Liver Foundation, males are more likely to develop primary hemochromatosis. People of Northern European descent are more prone to the condition.
Read on to learn more about genetics and hemochromatosis.
Secondary hemochromatosis
Common causes of secondary hemochromatosis
Multiple blood transfusions are another cause. For example, people with severe types of anemia, such as sickle cell disease, may require regular blood transfusions.
Because red blood cells are a rich source of iron, and the body cannot easily remove iron, this can lead to a high buildup of iron.
Neonatal hemochromatosis
Neonatal hemochromatosis likely occurs when the birthing parent’s body creates antibodies that attack the developing fetal liver.
However, health experts do not fully understand what causes the immune system to produce these antibodies.
Depending on the type, symptoms of hemochromatosis may present at different times. They can vary in severity. Generally, symptoms develop in males at an earlier age than females.
Some people do not experience any symptoms.
Some common symptoms of hemochromatosis
- fatigue and weakness
- weight loss
- joint pain
- changes in skin color
- abdominal pain
- loss of libido
To diagnose hemochromatosis, a doctor considers a person’s medical history, does a physical examination, and orders various tests.
Usually, testing involves blood tests known as an iron panel test. It checks the level of iron in the body. These tests include:
- serum iron
- serum ferritin
- total iron binding capacity
- hemoglobin
- transferrin
A doctor may also suggest a liver biopsy. However, this test is not necessary to confirm the diagnosis of primary hemochromatosis.
Instead, a doctor can use genetic testing to confirm a diagnosis. Genetic testing can also identify family members who may be at risk of hemochromatosis. Most often, a doctor performs genetic testing by swabbing the cheek.
Additionally, other tests, such as MRI, can help diagnose hemochromatosis as well as monitor potential damage to the liver.
Treatment options for hemochromatosis aim to reduce the iron load in the body. The most common treatment is phlebotomy, also known as bloodletting or therapeutic blood draw.
The procedure involves removing red blood cells, which causes iron levels to drop. A person’s healthcare professional advises how often they should undergo phlebotomy and how much blood should be removed each time.
If a person cannot have phlebotomy, they may instead receive chelation therapy. In this procedure, a healthcare professional injects a medication that binds to excess iron and carries it out of the body.
A doctor may also recommend dietary changes to reduce iron intake. This may involve avoiding vitamin C supplements, raw shellfish, and high alcohol use.
Read on to learn more about a hemochromatosis eating plan.
If left untreated, hemochromatosis can lead to a range of complications that affect various organs.
Some common complications include:
- liver damage, such as cirrhosis, liver failure, and liver cancer
- heart problems, such as cardiomyopathy and heart failure
- arthritis, such as osteoarthritis
- pancreatic damage that can lead to diabetes
Hemochromatosis is a condition that involves an excessive accumulation of iron in the body, which can lead to health problems. The three main types of the condition are primary, secondary, and neonatal hemochromatosis.
Typically, a doctor may use blood tests, liver biopsy, and genetic testing to diagnose the condition. Treatment often involves phlebotomy to remove excess iron from the blood and dietary changes.
Without suitable treatment, people may experience liver complications, such as cirrhosis, liver failure, and liver cancer.
If a person has any symptoms of hemochromatosis, they can reach out to a healthcare professional for advice.