Hemochromatosis: Symptoms, Causes and Treatment

It is an iron disorder in the blood in which the body produces too much iron.

This action is genetic, and the excess iron, if untreated, can damage the joints, and organs and, finally, be fatal.

There are several types of hemochromatosis.

Type 1, also called classic hemochromatosis, is a leading cause of iron over disease. People with too much iron absorb extra iron from their daily diet.

The human body can not get rid of extra iron. Over time, these excesses accumulate in major organs such as the heart, liver, pancreas, joints, and pituitary gland.

If the extra iron is not removed, these organs can get sick. Untreated hemochromatosis can be fatal.

Iron is an essential nutrient found in many foods. Iron carries oxygen (in hemoglobin) to all parts of the body. Typically, humans absorb about 8-10% of the iron in their food.

People with hemochromatosis can absorb four times more iron than usual.


Undiagnosed and untreated hemochromatosis increases the risk of diseases and conditions such as:

  • Diabetes mellitus.
  • Irregular heartbeat or heart attack.
  • Arthritis (osteoarthritis, osteoporosis).
  • Cirrhosis of the liver or liver cancer.
  • Gallbladder disease
  • Depression.
  • Impotence.
  • Sterility.
  • Hypothyroidism
  • Hypogonadism
  • Some cancers

The poor management of iron in the brain has been observed in the autopsies of people with neurodegenerative diseases: Alzheimer’s, early-onset Parkinson’s, epilepsy, multiple sclerosis, and Huntington’s.

Caucasians are the people most at risk for the classic type of hemochromatosis. More than a million Americans have the genes for this type. However, other combinations of genes result in hemochromatosis, regardless of a person’s ethnicity.

It is estimated that as many as or more than 16 million Americans have some elevated iron and are at risk for the same diseases that occur in people with the classic untreated type: bone and joint disease, cirrhosis, liver cancer, diabetes, hypothyroidism, hypogonadism, infertility, impotence, depression or premature death due to liver or heart failure.

Symptoms of Hemochromatosis

Chronic fatigue and joint pain are the most common complaints of people with hemochromatosis. For this reason, the complete diagnosis is often delayed because these two symptoms are commonly observed in other diseases.

Pain in the knuckles of the index finger and the middle finger, collectively called “The iron fist,” is the only specific sign or symptom of hemochromatosis. However, not everyone experiences the iron fist.

Often patients complain about the following:

Some complaints of the following symptoms, although these indicators are not always specific to hemochromatosis:

  • Lack of energy.
  • Abdominal pain.
  • Diffuse memory.
  • Loss of sexual desire
  • Irregular heartbeat.

When symptoms are associated with hemochromatosis, they usually start in men in their late 20s to early 30s. In women, symptoms usually start around 10-15 years after they stop having a period due to menopause, contraceptive pills, or hysterectomy.

Diseases that can develop if left untreated

  • Bone and joint: osteoarthritis or osteoporosis in the knuckles, ankles, and hips.
  • Liver: enlarged liver, cirrhosis, cancer, liver failure, diabetes.
  • Skin: abnormal color (bronze, reddish, or ash gray).
  • Heart: irregular heartbeat, enlarged heart, congestive heart failure.
  • Endocrine: diabetes, hypothyroidism, hypogonadism (infertility, impotence), hormonal imbalances.
  • Spleen: enlarged spleen.


Hemochromatosis type I is caused by defects (mutations) in the HFE gene. The HFE gene has many purposes, but an important role is that it helps control the amount of iron absorbed from food.

There are several known mutations in the HFE gene, but currently, only three tests are available: C282Y, H63D, and S65C.

Everyone inherits two copies of HFE, one from mom and one from dad.

When a person has a mutated copy, it is called a carrier or heterozygote. When a person has two duplicate mutated copies, it is called homozygous. When a person has two different but mutated copies, it is called a compound heterozygote.

Genetics can be complicated to understand at first. The most important thing is knowing which combination of genes causes the highest known risk of iron loading.

Higher risk

  • C282Y homozygotes and the compound heterozygote C282Y / H63D.
  • Moderate risk.
  • H63D homozygous or other compound heterozygous combinations
  • Low risk.
  • Heterozygous C282Y (carrier); Heterozygous H63D (carrier) or heterozygous S65C (carrier).

The risk can be modified by other genes, the environment, or unknown factors. Therefore, anyone with a mutated copy of HFE should periodically ask their doctor to check iron levels through hemoglobin, iron in fasting serum, TIBC, and serum ferritin.


Iron levels must go down to normal. Therapeutic blood extraction, or phlebotomy, is the most common means of reducing iron.

Therapeutic phlebotomy (FT) is the same as regular blood donation, requiring a medical order.

Regular blood donation can be made every eight weeks. A person with severe iron overload may need to give blood up to 8 times a month.

The goal is to bring ferritin levels in the blood to an ideal range of 50-150ng / mL. Depending on the amount of iron overload at the diagnosis, reaching normal levels may require several phlebotomies.

Once iron levels reach normal, a person can begin maintenance therapy, which involves making a blood donation every 2 to 4 months.

Some people may need to give more or less blood depending on what they eat and how quickly their body absorbs iron.

A person can live an average life expectancy when hemochromatosis is diagnosed early and treated before the organs are damaged.

For people who have the disease at the time of diagnosis, life expectancy can be shortened depending on the disease. If a person is diagnosed and treated before serum ferritin is more significant than 1,000 ng/ml, the risk of cirrhosis or liver cancer is less than 1%.