What is Hemochromatosis? Types, Risk Factors, and Causes

Hemochromatosis is a condition in which the body absorbs excessive iron from food, causing iron buildup in organs such as the liver, heart, and pancreas. This overload can cause serious health issues, including liver disease, heart complications, and diabetes. The most common form of hemochromatosis results from an inherited genetic mutation, but not everyone with the gene develops severe symptoms. Signs of the condition typically emerge in midlife. Treatment involves regularly drawing blood from the body to reduce iron levels, as red blood cells store a significant amount of iron.

Types of Hemochromatosis

Health experts categorize hemochromatosis into three types based on how the condition develops.

Primary Hemochromatosis

Primary hemochromatosis is also known as hereditary or inherited hemochromatosis. This type develops due to genetic variations passed down from parents. The four types are categorized based on age of onset, genetic cause, and inheritance pattern.

• Type 1: The most common form, typically appearing in adulthood. Men often experience symptoms between the ages of 40 and 60, while women may develop symptoms after menopause.
• Type 2: Also called juvenile-onset hemochromatosis, this type begins in childhood. It can affect puberty by interfering with sex hormone production.
• Type 3: Considered an intermediate form between types 1 and 2, this type usually causes symptoms before age 30.
• Type 4: It is also known as ferroportin disease, which particularly develops in adulthood.

Secondary Hemochromatosis

This form results from other health conditions or external factors that cause excessive iron buildup. Contributing factors may include dietary habits, frequent blood transfusions, or medications that increase iron absorption.

Neonatal Hemochromatosis

A rare condition, neonatal hemochromatosis affects fewer than 1 in 1 million pregnancies, according to Stanford Medicine. Unlike adult hemochromatosis, it develops due to liver damage in a developing fetus.

Symptoms

Most people don’t show visible symptoms of hemochromatosis, and even if they do find a few visible symptoms, they will definitely differ from one person to another.

The most common symptoms of hemochromatosis are:

• Extreme tiredness
• Diabetes
• Loss of sex drive
• Reduced weight
• Memory fog
• Impotence
• Low libido
• Pain in the abdominal region
• Liver failure
• Heart failure
• Skin color will change to bronze or gray
• Pain in the joint regions

Causes

The causes of hemochromatosis vary depending on its type, as outlined below.

Primary Hemochromatosis

The HFE gene, commonly known as the hemochromatosis gene, controls the amount of iron absorbed from food. It is present on the short arm of chromosome 6. The two most common mutations in this gene are C28Y and H63D.

While hereditary hemochromatosis often involves inheriting a defective gene from each parent, not everyone with these genes develops the condition. Women’s hemochromatosis symptoms do not appear till after menopause. Menstruation lowers the iron level in their blood, so it is not seen until menopause. After menstruation, the levels will begin to rise again. Women’s hemochromatosis symptoms do not appear till after menopause. Menstruation lowers the iron level in their blood, so it is not seen until menopause. After menstruation, the levels will begin to rise again.

Secondary Hemochromatosis

This condition of hemochromatosis occurs when there is a build-up of iron due to another medical condition, like erythropoietic hemochromatosis. In this type of disease, the red blood cells release enormous amounts of iron into the body since they are very weak at that point.

A few risk factors for secondary hemochromatosis include:

• Alcohol dependency
• Diabetes, heart disease, or liver disease that runs in the family
• Consuming iron or vitamin C supplements increases the iron levels in the body.
• Blood transfusions at short intervals

Complications

Complications mostly arise from the organs that store an excess of iron. A person affected by hemochromatosis has a higher risk of developing:

• Liver damage
• Pancreatic damage
• Joint damage
• Heart problems
• Skin discoloration
• Damage to the adrenal glands
• Erectile dysfunction and menstrual irregularities

Early detection of and maintenance of iron levels can help avoid complications in the future.

Lifestyle Changes

You can take several steps to manage your health with hemochromatosis, including:

• Iron levels are maintained with annual blood tests.
• Should reduce the intake of supplements like multivitamins, vitamin C
• Avoiding alcohol
• Keeping an iron level log

Diagnosis

To get along with the diagnosis process of hemochromatosis, the doctor will

• Ask about your symptoms
• Ask if you are on any supplements currently
• Ask about your personal and family medical history
• Conduct a full body test

Apart from this, a few other tests are also very important in diagnosing hemochromatosis.

Blood test

A blood test, such as a serum transferrin saturation (TS) test, can be used to determine iron levels. A TS test detects how much iron is linked to transferrin, a protein in your blood that carries iron. A blood test can also provide information about your liver function.

Genetic testing

A simple DNA test can help determine if a person has genetic changes that might lead to hemochromatosis. If there is a family history of hemochromatosis, DNA testing may be beneficial for people who want to conceive a family.

Liver Biopsy

The liver is the vital organ where the iron in our body is stored. It is the organ most affected by an iron overload, and a liver biopsy will tell you if there is an iron overload in the body.

MRI Test

MRI scans and other noninvasive tests can help you measure the iron levels in your body.

Treatment

Treating hemochromatosis is available for managing high iron levels.

Phlebotomy

The most common medical procedure is phlebotomy. This involves removing blood and iron from the body. A healthcare professional inserts a needle into a vein, and blood flows into a bag, just like when you give blood.

Chelation

This is an emerging therapy that is not widely used due to its high cost. Your doctor will give you an injection or pills to help you expel excess iron in your urine or stool.

Outlook

A person’s outlook on hemochromatosis depends on the person’s point of view of the person with respect to the disease. A person who receives treatment before any organ has been harmed has a better prognosis than someone who has had an organ damaged before receiving treatment. Treatment at the appropriate time will avoid future organ damage while reversing any existing damage. A longer lifetime is possible with early treatment.

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