What is Hemochromatosis?

What is Hemochromatosis
What is Hemochromatosis

What is Hemochromatosis?

What is Hemochromatosis? Hemochromatosis is a condition in which the body absorbs and overheats excess iron from food consumed. This absorption and stockpiling process lasts for years and can result in damage to the kidneys, joints, pancreas, and heart, and to death if left untreated.

Hemochromatosis can occur due to genetic mutations or other conditions that affect the absorption of iron by the body. Symptoms usually appear at the age of 30 to 60 years. In women, symptoms appear less frequently because of excess iron can be excreted naturally through the menstrual cycle or during childbirth. New symptoms appear when women enter menopause.

Symptoms of Hemochromatosis

Hemochromatosis usually does not cause symptoms immediately. New symptoms will appear after the accumulation of iron reaches a certain limit. The symptoms include:

  • Often feel tired and weak.
  • Joint pain.
  • Abdominal pain.
  • Weight loss.
  • Difficult erections (for men).
  • Menstruation is not smooth or stopped (for women).
  • Frequent urination.

In the long run, sufferers may experience advanced symptoms such as:

  • The skin becomes darker, and is permanent.
  • Often feel thirsty and frequent urination.
  • Swelling of the abdomen, hands, to feet.
  • Shortness of breath.
  • Chest pain.
  • Severe pain and stiffness in the joints and fingers.
  • Diabetes.
  • Failed.
  • Irregular heartbeat (arrhythmia).
  • Heart failure.
  • Decreased passion
  • Testicular shrinkage.

Causes of Hemochromatosis

The body needs iron to produce hemoglobin in red blood cells that serves to bind and drain oxygen throughout the body. Iron is absorbed from food consumed, as needed. Generally only 8-10% of iron from food is absorbed by the body. While in patients with hemokromatosis, iron absorption can be up to 4 times from normal. In addition, there is also a disruption in the process of transporting iron in the body, which is associated with the work of the hormone hepcidin. Iron transport by ferroportin is inhibited by hepcidin, so iron can not be metabolized and excreted from the body. If the accumulation of iron is happening in the long term, will result in fatal damage to various organs of the body.

Based on the cause, hemokromatosis disease is grouped into two, namely primary and secondary.

Primary Hemochromatosis

Primary hemocromatosis is caused by HFE gene mutations that regulate the amount of iron absorption by the body. There are 2 types of HFE gene mutations, namely C282Y and H63D.

Hemochromatosis will arise when a person inherits this genetic disorder from both his parents (father and mother), and will certainly reduce this disorder to his child.

Meanwhile, if a person inherits this disorder only from one parent (father or mother only), then he is only a carrier (carrier) that may not show any symptoms, but potentially reduce this disorder to his child.

There are 2 main types of primary hemokromatosis that need to be known, namely:

  • Juvenile hemochromatosis. This condition is caused by a mutation of the hemojuvelin gene, not the HFE gene. Symptoms appear earlier, between the ages of 15 to 30 years.
  • Neonatal hemochromatosis. The accumulation of iron is so severe that it causes liver damage in newborns, and usually leads to death.

Secondary Hemochromatosis

It is said secondary hemokromatosis when abnormal absorption and accumulation of iron in the body caused by the presence of other factors or disorders, such as:

  • Anemia.
  • Frequent blood transfusions (especially in people with crescent anemia and thalassemia).
  • Dialysis or dialysis of the liver.
  • Chronic liver disease.
  • Too much alcohol.

The risk of secondary haemochromatosis increases if there is a history of diabetes and heart disease in the family. In addition, taking supplements containing vitamin C and iron in the long term can also increase the absorption and accumulation of iron by the body.

Diagnosis of Hemochromatosis

Diagnosis of hemochromatosis is established by blood examination, including examination:

  • Serum ferritin, to determine the levels of iron in the liver.
  • Serum transferrin saturation, to determine levels of iron in the blood.
  • DNA, to find out if there are genetic disorders that can lead to hemochromatosis. This examination is usually performed on patients suspected of primary haemochromatosis.

Other tests may also be performed to check for liver damage, such as:

  • Examination of liver function
  • MRI
  • Liver biopsy

Treatment of Hemochromatosis

Not all types of hemokromatosis can be cured, especially primary hemokromatosis. Treatment is done to suppress symptoms in order to avoid further complications. Some common actions taken in cases of hemokromatosis include:


Phlebotomy or vein section is the treatment of choice for removing excess iron from the patient’s body by taking blood. Initially blood sampling will be done regularly in the near enough time, usually every week, until the levels of iron return to normal. Then blood taking is done at longer intervals, for example 2 to 4 months, to ensure the level of iron in the body within normal limits. In patients with primary hemokromatosis, this action needs to be done for life.

Chelation therapy

Chelation is usually recommended for patients who can not perform phlebotomy, for example if they have anemia, heart problems, or small blood vessels. In this case, the patient will be given a drug that can bind and secrete iron through urine and faeces.

Diet setting

Patients are encouraged to avoid foods or beverages containing iron, including alcoholic beverages.

Complications of Hemochromatosis

Untreated hemokromatosis disease can lead to serious complications, such as:

  • Liver cirrhosis increases the risk of cancer in the liver.
  • Damage to the pancreas, suppresses the production of insulin that can lead to diabetes.
  • Cardiomyopathy, damage to the heart muscle that can cause heart failure.
    Arthritis, damage to joints.
  • Skin color change, becomes bronzed or gray in color.
  • Reproductive problems, such as male impotence and menstrual cycle disorders in women.
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