Hemochromatosis: Symptoms, Treatment

Overview

Hemochromatosis is a condition in which your body absorbs too much iron from the food you have. As a part of hemoglobin which is a molecule in the blood that transports oxygen from the lungs to all body tissues, iron is important to us. Nevertheless, if excessive iron builds up, you will have the iron overload which can damage your organs such as the liver, heart and, pancreas.

Hemochromatosis can be divided into three types, including:

  • Hereditary hemochromatosis
  • Secondary hemochromatosis
  • Neonatal hemochromatosis

In the United States, hemochromatosis affects more than 1 million people. About 0.5 percent of the US Caucasians are suffering from the condition.

Symptoms

Common signs and symptoms may include:

  • Joint pain
  • Fatigue, or feeling tired
  • Unexplained weight loss
  • Abnormal bronze or gray skin color
  • Abdominal pain
  • Loss of sex drive

Symptoms of hemochromatosis may vary from person to person. In some cases, people with hemochromatosis may not develop signs or symptoms at all.

Complications

If you don’t treat this condition in time, it may lead to other complications, such as:

  • Cirrhosis, or scarring of liver tissue
  • Diabetes
  • Irregular heart rhythms or weakening of the heart muscle
  • Arthritis
  • Erectile dysfunction

These complications can also be the first sign of hemochromatosis for some people.

Causes

Hereditary hemochromatosis

At present, hereditary hemochromatosis is the most common type. It results from inherited genetic defects. In most cases, mutations in a gene called HFE cause hereditary hemochromatosis.

You inherit one HFE gene from your parents. With 2 abnormal genes, you may have hemochromatosis and can also pass the abnormal genes to your children. But it’s worth noticing that not everyone inheriting two genes will have the problems. Carrying only 1 abnormal gene won’t lead to hemochromatosis. But as a gene mutations carrier, you may pass mutations to your children.

Secondary hemochromatosis

This type of hemochromatosis is mainly caused by frequent blood transfusions in people with severe anemia. Frequent blood transfusions may occur in the following types of anemia:

  • Congenital, or inherited anemia
  • Severe acquired anemia

Neonatal hemochromatosis

Neonatal hemochromatosis is a rare disease which usually causes liver failure and death in fetuses and newborns. The exact cause of this type of hemochromatosis is still under research. It is believed that more than one factor may bring about neonatal hemochromatosis.

Diagnosis

Since the symptoms of hemochromatosis can be caused by many other conditions, hemochromatosis is difficult to diagnose. Doctors often confirm a diagnosis of hemochromatosis with medical and family history, a physical exam and other tests. Tests may include:

  • Blood testing: to check iron levels.
  • DNA testing: to check for mutations in your HFE and hemojuvelin genes.
  • Liver biopsy: to help look for the presence of iron or liver damage.

Treatment

Treatment for hemochromatosis is a simple, inexpensive and safe process called phlebotomy, in which blood will be removed from your body regularly. It aims to reduce ferritin levels to a normal range.

After that, patients may need maintenance phlebotomy treatment every few months or more often. Serum ferritin will be tested every 6 months or once a year to help the doctor make a decision on the frequency of phlebotomy. Having an early treatment before organs are damaged can effectively prevent complications from occurring.

Lifestyle changes

Besides treatment, you can reduce your risk of hemochromatosis and its complications too if you:

  • Avoid iron supplements and multivitamins containing iron
  • Avoid vitamin C supplements
  • Avoid alcohol
  • Avoid eating raw fish and shellfish.


Keyword: hemochromatosis.

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Total Iron Binding Capacity – Reference Range

* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.