Hemochromatosis

1 What is Hemochromatosis?

Hereditary hemochromatosis causes the body to absorb  too much iron from consumed food. This leads to excess iron storage in organs such as the liver, heart and pancreas. Excess iron can lead to life-threatening conditions such as liver disease, heart problems and diabetes. The genes that cause hemochromatosis are inherited, but only a small number of people actually develop serious problems. Signs and symptoms of hereditary hemochromatosis usually appear in midlife. Treatment for this condition inludes a regular  removal of blood from the body. Because much of the body's iron is in red blood cells, this treatment lowers iron levels.

2 Symptoms

Some individuals with hereditary hemochromatosis never exhibit any symptoms.  Early signs and symptoms often overlap with those of other common conditions.

The common symptoms include:

Later signs and symptoms of the condition may include:

Hereditary hemochromatosis is always present at birth. However,  most individuals do not experience any symptoms until later on in their lives, usually between the ages of 50 and 60 in men  and after the age of 60 in women. Women are more  likely to develop the symptoms after menopause, when they cease to lose iron with menstruation and pregnancy.

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3 Causes

Hereditary hemochromatosis is caused by a mutation in the gene that  is in charge of the amount of iron the body absorbs from the food taken.

These mutations are passed from parents to their progeny.

A gene known as HFE is most  often the cause of hereditary hemochromatosis. The HFE gene has two common mutations, C282Y and H63D. 

Genetic testing can reveal weather one  has these mutations in their HFE gene.

4 Making a Diagnosis

Hereditary hemochromatosis is not easy to diagnose.

Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis. Many individuals do not show any signs or symptoms other than elevated levels of iron in blood. 

Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members diagnosed with the disease. 

Blood tests

The two key tests to detect iron overload are:

  • The serum transferrin saturation
  • the serum ferritin. 

Because a number of other condition also cause elevated ferritin, both blood tests are typically abnormal among individuals with the disorder and are best performed after one has been fasting. Individuals with abnormal iron levels must undergo genetic testing to confirm diagnosis.

Additional test may include:

5 Treatment

Doctors can safely and effectively treat hemochromatosis by removing blood from the body (phlebotomy) on a regular basis.

The goal of phlebotomy is to reduce iron levels to the norm. The amount of blood removed and how often it is removed depends on age, overall health and severity of iron overload. Initially, about 470 ml of blood is taken twice a week, this is usually done in a hospital or the doctor's office. A needle is inserted in a vein , the blood then flows from the needle into a tube that is attached to a blood bag. Once iron levels return to normal, blood can be removed less often typically every two to four months.

Treating hereditary hemochromatosis can help reduce the symptoms of  tiredness, abdominal pain, and skin darkening. It can help prevent serious complications such as liver disease, heart disease and diabetes.  Phlebotomy will not reverse the symptoms of cirrhosis or improve joint pain.

6 Risks and Complications

Factors that increase the risk of hereditary hemochromatosis include:

  • having 2 copies of a mutated HFE gene,
  • family history,
  • ethnicity were people of Northern European descent are more prone to hereditary hemochromatosis than people of other ethnic backgrounds.

Men are also more prone to developing hemochromatosis at an earlier age than women. 

Untreated hereditary hemochromatosis can lead to several complications which include: 

  • liver problems like cirrhosis, which increases the  risk of developing  liver cancer and other life-threatening complications.
  • Problems with the pancreas can also develop. 
  • Excess iron in the heart affects the hearts ability to circulate enough blood for the body's needs. This condition is called congestive heart failure.

Hemochromatosis can also lead to reproductive problems and skin color changes ( skin may appear bronze or gray in color).

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