Hemochromatosis: Symptoms, Causes and Treatment

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

This action is genetic and the excess iron, if untreated, can damage the joints, organs and, finally, can 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 amounts of iron from the 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. Normally, humans absorb about 8-10% of the iron in the food they eat.

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

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
  • Hipogonadismo
  • 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 disease.

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, there are other combinations of genes that 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 complain 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 the 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 and 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 that is 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 of the same mutated copies, it is called homozygous. When a person has two different, but mutated copies, it is called a compound heterozygote.

Genetics can be very difficult to understand at first. The most important thing is that you know 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.


It is very important that iron levels 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, but it requires a medical order.

Regular blood donation can be done every 8 weeks. A person with severe iron overload may need to give blood up to 8 times in a single 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 time of 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 throughout life.

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

When hemochromatosis is diagnosed early and treated before the organs are damaged, a person can live a normal life expectancy.

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 greater than 1,000 ng / ml the risk of cirrhosis or liver cancer is less than 1%.