Hemochromatosis

Someone with hemochromatosis (he-moe-kroe-muh-TOE-sis), a hereditary disorder, absorbs an excessive amount of iron after they eat foods rich in this essential mineral.

Stored in vital organs such as the heart and liver, this iron accumulates over time, leading to life-threatening conditions like heart problems or liver disease. 

Here at YourDNA.com, we’ve developed this guide to help you understand more about this rare genetic disorder experienced by a minority of people.

What Is Hemochromatosis?

Hemochromatosis is the name for a group of diseases that causes the body to absorb too much iron. It’s also called HFE-associated hereditary hemochromatosis, Classic hemochromatosis, or Hemochromatosis classic. 

Hemochromatosis is an iron overload disorder because the human body does not have an efficient mechanism for excreting excess iron.

Over decades, iron accumulates in tissues and joints as well as vital organs like the pancreas, liver, heart, and skin, causing organ damage.

The most effective remedy has been phlebotomy, or blood removal because red blood cells carry a considerable amount of iron.

6 Types of Hemochromatosis

Medical science has identified six types of hemochromatosis ¹, classifying them on factors like age of onset, genetic causation, mode of inheritance, and so on.

Hemochromatosis type 1, also called genetic or hereditary hemochromatosis, is the most common disorder.

Although it starts in early adulthood, it typically only causes health problems in men between 40 and 60 years of age and women after menopause.

Hemochromatosis type 2, also called juvenile-onset disorder, starts in childhood. It affects the secretion of sex hormones and causes health problems by age 20.

Males experience a delay in puberty because of a decrease or absence of sex hormones while females experience menstruation but menses only last a few years. If undiagnosed and untreated, it can be fatal, causing heart congestion by age 30.

Hemochromatosis type 3 starts before age 30. Symptoms include fatigue, joint pain, and muscular weakness. The pancreas, heart, and liver are the main organs affected by it.

Hemochromatosis type 4, also called ferroportin disease, can start at any age. Researchers subdivide this into type 4A and 4B.

Those with 4A may have no symptoms or symptoms associated with liver disease. Those with 4B show symptoms similar to type 3, like fatigue, joint pain, and weakness because of excess iron stored in the pancreas, heart, and liver.

Hemochromatosis type 5 is extremely rare. Researchers have only found it in a single Japanese family. Those with type 5 show similar symptoms to type 3 and type 4B, like fatigue, joint pain, and weakness because of excess iron stored in the pancreas, heart, and liver.

Neonatal hemochromatosis is the sixth type. Fetuses and newborns with this disease have severe fetal liver disease due to excessive iron in the liver.

Causes of Hemochromatosis

The hemochromatosis gene is a pathogenic variant of a normal gene. Specifically, a genetic mutation in the HFE gene causes hemochromatosis. 

The mechanism for the mutation depends on the type of hemochromatosis. For instance, hemochromatosis type 3 results from a defect in transferrin receptor 2 in HFE3.

Normally, the HFE gene instructs the body on how to make a protein on the outer layer of cells to detect how much iron from food the body should absorb. 

However, if there is a pathogenic variant in the HFE gene, the body does not know how to regulate iron absorption. Consequently, it overcorrects and absorbs too much iron ². 

What makes the problem worse is that the body does not have an effective counter-mechanism to excrete excess iron.

So — because too much iron is absorbed with no effective means to get rid of this excess through excretion — the iron settles into tissues and organs. Eventually, the accumulated iron reaches a critical threshold and damages vital organs.

The Genetic Pattern of Inheritance of Hemochromatosis

Genetic testing will reveal if a person has hemochromatosis inheritance. A mutation of the HFE gene causes hereditary hemochromatosis. H63D and C282Y are two common mutations.

If a person has inherited only one abnormal gene, they will not develop the disorder but will be a carrier of a gene mutation.

This means they can pass the abnormal gene on to their children.

If a person has inherited two abnormal genes, this doesn’t mean that they will always get the disorder. Some people still remain healthy carriers.

According to the Mayo Clinic, “… not everyone who inherits two genes develops problems linked to the iron overload of hemochromatosis.” ³

Who Gets Hemochromatosis?

Hereditary hemochromatosis appears in all ethnic groups, but people of Northern European descent have a higher likelihood of getting it than any other ethnic group or ancestry ⁴. 

Also, men are more likely to get it than women. One reason may be that women lose significant amounts of iron through menstruation, as well as pregnancy. 

Finally, men between ages 30 to 50 are more likely to get it than men of other ages. 

Risk Factors for Hemochromatosis

Risk factors that increase the risk of inheriting hemochromatosis include:

1. Ethnicity: People of Northern European descent are more susceptible than any other ethnic group.
2. Gender: Men accumulate more iron than women because women lose iron through menstruation and during pregnancy.
3. Number of gene copies: Inheriting two copies of the mutated gene, rather than just one, increases risk. 
4. Family history: First-degree relatives (parents, siblings and children) are at most risk.

Signs & Symptoms of Hemochromatosis

Early symptoms of Hemochromatosis are joint pain, abdominal pain, fatigue, and weakness, while later symptoms are diabetes, heart attacks, liver failure, loss of sex drive, and impotence. However, some people may show no symptoms.

Although the disease is present when a child is born, it takes about 50 to 60 years before iron-loading in tissues and organs reaches a toxic state and creates symptoms.

In women, symptoms usually only appear after menopause because they are no longer getting rid of excess iron through menstruation.

Diagnosis of Hemochromatosis

Since the symptoms of hemochromatosis can be like other diseases, several tests are necessary to establish a diagnosis. 

For instance, sideroblastic anemia, a condition in which the bone marrow can’t supply the body with enough red blood cells, also has symptoms like fatigue, weakness, and liver damage.

A hemochromatosis test will include blood tests for ferritin and transferrin.

The blood test for ferritin measures serum ferritin levels while the blood test for transferrin, called a transferrin saturation (TS) test, measures the amount of transferrin, a protein responsible for carrying iron in the blood. 

However, since blood tests alone won’t reveal the extent of the disease, a liver biopsy and liver function tests are often necessary to measure the severity of hemochromatosis. 

If still uncertain of a diagnosis, doctors may also use other tests, such as magnetic resonance imaging (MRI) and gene testing ⁵, which can be done either as a cheek test or a whole blood test.

Are There Prenatal Tests for Hemochromatosis?

Prenatal testing for pregnancy is possible for a mother whose family has the mutant gene.

Theoretically, prenatal testing should increase the rate of hemochromatosis prevention but this rarely happens for two reasons: one, most parents don’t ask for prenatal testing in the first place; and two, most people don’t know they have the disease until their middle age because that’s when early symptoms appear.

Carrier Screening for Hemochromatosis

A hemochromatosis test kit, which involves a cheek swab with a brush, can show if someone is a hemochromatosis carrier. 

These tests can reveal if H63D and C282Y mutations have affected the HFE gene. The test is simple cheek swab with a mascara-like brush.

What Is the Risk of Passing the Condition on to My Children?

Both parents must have at least one mutation in their HFE genes to pass it on to their offspring, and a child will only inherit it if he or she gets two copies of the mutated gene.

Treatment and Care Options for Hemochromatosis

The goal of all treatment and care options is to bring the amount of iron in the body down to normal levels and then maintain it to prevent damage to organs caused by too much iron. 

Hemochromatosis treatment plans focus on various ways to reduce iron levels like phlebotomy and iron chelation therapy.

Phlebotomy

Doctors recommend phlebotomy, removing blood from a patient’s body to reduce iron overload because it reduces ferritin levels by as much as 30-50 points. 

Iron Chelation

However, if patients are anemic or can’t tolerate therapeutic phlebotomy, iron chelation therapy is the next best option. This uses drugs to reduce iron levels in the body.

Diet Restrictions

Strict dieting is also essential for managing the disease.

Someone with the condition must eliminate foods like red meats and raw shellfish.

Red meat is rich in heme iron, a highly absorbable type of iron and raw shellfish has a bacterium called vibrio vulnificus, which can cause a serious infection, particularly for people with damaged livers. 

People with the disease must also avoid sugary foods, such as beverages and foods with sugar because sugar increases the absorption of iron.

They must limit fruit consumption, too, because fruits contain fructose, a natural sugar. Since nutritionists have noticed a link between hemochromatosis and bananas, they recommend limited consumption.

Incidentally, hemochromatosis weight loss occurs because of the elimination of sugary, high-calorie foods.

Besides advice on what not to eat — nutritionists may suggest foods that decrease iron absorption like tea and coffee, whole grains and legumes, milk and cheese.

Vitamin C supplements can also be problematic because this vitamin improves iron absorption. However, foods rich in vitamin C can be eaten because don’t contain enough potency to increase iron levels.

Alcohol, too, is forbidden, as this further aggravates any liver damage from hemochromatosis.

Medications

Pharmaceutical companies are currently working on medications to bring down excessive iron levels in the body.

For instance, LJPC-401 by La Jolla, a promising new drug for hemochromatosis, that's designed to reduce iron overload has been approved by the FDA for Phase 1 clinical trials ⁶. 

Complications Associated With Hemochromatosis

Many complications can arise if doctors do not treat hereditary hemochromatosis.

This disease can:

• Cause cirrhosis, which is fibrosis (scarring) of the liver.
• Damage the pancreas, leading to diabetes.
• Prevent the heart from circulating enough blood throughout the body. 
• Create congestive heart failure or arrhythmias, which are abnormal heart rhythms. 
• Reduce sex drive in males and lead to erectile dysfunction and alter women’s menstrual cycles.
• Discolor the skin, making it gray or bronze.

The Prognosis of Hemochromatosis

Prognosis is positive if a person receives treatment before organ damage like heart or liver failure occurs. 

If left untreated, this disease is fatal, reducing normal life expectancy because of organ damage.

What to Do Next: Living With Hemochromatosis

Health care practitioners provide people who live with hemochromatosis the following guidelines:

1. They should follow a strict diet that avoids iron-rich foods. However, if they are receiving phlebotomy or other powerful iron-reduction treatments, doctors say they can eat a moderate amount of iron-rich foods.
2. They should abstain from alcohol as this puts an additional strain on the liver because someone with hemochromatosis may already suffer from cirrhosis.
3. They should not take supplements like multivitamins with iron or vitamin C.
4. They should find a hemochromatosis specialist to monitor their condition and advise on the latest medical treatments.
5. They should join hemochromatosis organizations to get emotional support and stay informed about healthcare resources.

Summary

Hemochromatosis is the general name for a group of genetic disorders that causes the body to absorb too much iron. Doctors also refer to this disease as HFE-associated hereditary hemochromatosis, Classic hemochromatosis, or Hemochromatosis classic.

Researchers have identified at least six types of hemochromatosis: Type 1, Type 2, Type 3, Type 4, Type 5, and neonatal hemochromatosis.

Although the disease starts at birth, signs and symptoms may show up as late as 60 years of age because iron overload becomes critical by then, resulting in organ damage.

Hemochromatosis affects many organs, especially the heart, liver, and pancreas.

The disease is hereditary and caused by genetic mutations of the HFE gene, which controls a protein that regulates how much iron the body can absorb.

Since the body does not have an effective way of excreting excess iron, this iron accumulates in tissues and organs, eventually leading to a toxic condition.

There are early and late symptoms. Early symptoms include joint pain, abdominal pain, and fatigue.

Later symptoms result from organ damage caused by iron accumulation and include diabetes, heart congestion, liver damage, loss of sex drive, and erectile dysfunction.

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