Hereditary hemochromatosis – What is it?

November 23, 2022

Hereditary hemochromatosis is an inherited disorder that causes your body to absorb and store too much iron. If untreated, hereditary hemochromatosis can lead to serious health problems. These include heart disease, liver disease, diabetes, and osteoarthritis. There is no cure for hereditary hemochromatosis. Early diagnosis and treatment can help prevent these complications.
Hemochromatosis is caused by a mutation in the HFE gene. This gene provides instructions for making a protein called histidine-ferritin-expressing protein. This protein plays a role in regulating iron absorption from the diet. Mutation in the HFE gene interferes with the function of this protein. This results in excess iron absorption and storage.
Most people with hemochromatosis inherit two faulty copies of the HFE gene one from each parent. In these cases, symptoms usually develop between the ages of 30 and 50. It is possible to inherit only one faulty copy of the HFE gene. People with one faulty copy of the gene are known as carriers. Carriers do not develop symptoms. They get an iron overload due to other reasons such as a chrnoic liver condition.
Hemochromatosis can damage many organs in the body, including the heart, liver, pancreas, and joints. Symptoms of hemochromatosis can include joint pain, fatigue, weakness weight loss or an irregular heart beat.
Some people with genetic hemochromatosis never develop any symptoms at all. The only way to know for sure is to get tested by a doctor. A simple blood test can detect elevated levels of iron in the body and confirm a diagnosis of hemochromatosis. Once diagnosed, treatment can begin right away to remove the excess iron from the body and prevent further organ damage.
Treatment for Hemochromatosis The main treatment for hereditary hemochromatosis is therapeutic phlebotomy. This is a medical procedure where blood is removed from the body on a regular basis. Your blood iron returns to normal levels. Another option is to change your diet, which can also lower your iron levels.

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