Treatment of Hemochromatosis

About the disease

Hemochromatosis is a condition that causes the body to absorb an excessive amount of iron from food consumption. Too much iron is toxic to the body and can lead to organ failure if not treated in time. The organs that are most affected by hemochromatosis are the liver and the heart. In some cases, iron can also build up in the pancreas. In rare cases, joints can be affected as well.

There are two main forms of hemochromatosis: primary and secondary. The first type is hereditary and often develops as a result of a mutation in the HFE gene, which is primarily responsible for helping the body to absorb iron from food in the correct amount. If a couple both carry a mutated HFE gene, it is likely that their child will inherit this form of hemochromatosis. If only one parent is a carrier, the child will not develop this condition, but is likely to become a carrier themselves. This disease usually manifests itself after the age of 40 in men and after the menopause in women.

The secondary form of hemochromatosis can be caused by other medical conditions such as anemia. Secondary hemochromatosis can develop as a result of infections such as hepatitis C and also as a result of multiple blood transfusions. In some cases, alcoholism can also lead to the development of hemochromatosis in men over 40 to 60.

Symptoms

• Fatigue
• Joint weakness
• Impotence
• Pain in the abdomen
• Low stamina
• Low sex drive
• Nausea in some cases

Overall, symptoms are similar to anemia.

Diagnosis

• During a general examination, the doctor will ask the patient if any of their relatives have hemochromatosis or if they have ever suffered from anemia or any liver infections in the past.
• A blood test will be performed, to establish whether there is too much iron in the patient’s blood
• The patient will usually be advised to undergo gene testing, to find out if they have a mutation of the HFE gene.
• The liver is the main organ for storing iron. A biopsy will be carried out if there is such a high level of iron in the blood that the patient is at risk of developing liver damage. 

Treatment

• A phlebotomy is the most common treatment for hemochromatosis. Around 500cc of blood is drained, in order to remove the excess iron. This will also prevent it from building up in the internal organs. 3 to 4 session will be required per year.
• If the patient has any problem with needles or has heart problems, drugs that dissolve excess iron in the stool and urine can be prescribed as an alternative. However, these drugs have more side effects than a phlebectomy. 

Authors: Dr. Nadezhda Ivanisova, Dr. Sergey Pashchenko