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Hereditary hemochromatosis: Diagnosis, symptoms and treatment

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The hereditary hemochromatosis refers to a group of rare genetic disorders characterized by the accumulation of iron in various organs such as the liver, pancreas or heart.

The accumulation of iron in hereditary hemochromatosis is slow and occurs over many years. Over time, the accumulated iron causes tissue damage and alters the proper functioning of the affected organs.

The origin is in many cases mutations in the HFE, which encodes a protein involved in iron transport from the blood into cells.

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Hereditary hemochromatosis: Diagnosis

The diagnosis of hereditary hemochromatosis is based on the identification of the characteristic symptoms, a detailed patient history, a complete clinical evaluation and several specialized tests.

When the disease is suspected, blood tests are performed to detect increased levels of iron in the blood. Specifically, the levels of serum ferritin, an iron compound used as an indicator of the reserves of this metal are analyzed.

The diagnosis of hereditary hemochromatosis can be confirmed by molecular genetic tests, which are used to detect mutations in the HFE gene.

Other tests may be performed liver biopsy (accumulation of iron in the body can lead to cirrhosis or liver cancer) or MRI also the liver.

Hereditary hemochromatosis: Symptoms

The symptoms of hereditary hemochromatosis can vary from person to person, depending on factors such as the amount of iron ingested in the diet. Symptoms usually appear past forty years. Iron accumulation is slow and it is from that age when they usually start problems. In addition, the symptoms are often more noticeable in men than in women.

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Common symptoms include the following:

  • Chronic Fatigue (the most common complaint from patients)
  • Cirrhosis / liver cancer (with or without a history of alcohol consumption). Liver problems are the most common cause of death in these patients.
  • Arthritis / joint pain
  • Impotence / infertility / infertility
  • Early menopause / irregular menses
  • P thinning hair loss
  • Diabetes
  • Cancer (Iron is one of the main nutrients needed by tumors)
  • Pain and / or bloating
  • Weight loss
  • Colds and frequent infections
  • Headaches
  • Hypothyroidism; (Low thyroid)
  • Heart problems

People who achieve very high levels of iron can be bronze or gray skin.

If the disease is not diagnosed early and treated properly, the disease can be fatal. Fortunately, the diagnosis is simple and treatment allows life expectancy is not reduced.

Hereditary hemochromatosis: Treatment

Treatment of hereditary hemochromatosis seeks to remove excess iron in the body. The most common way is through a procedure called phlebotomy.

In the patient phlebotomy blood is drawn frequently until their blood iron levels return to normal. With early diagnosis and treatment can prevent nearly all long-term problems of hereditary hemochromatosis.

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