Hemochromatosis Definition, Reason, Symptoms, Treatment & Prevention

Hemochromatosis Definition, Reason, Symptoms, Treatment & Prevention

Understanding

Hemochromatosis is a metabolic disorder, in which the body stores too much iron. Basically iron is an important nutrient whose sources come from various types of food. This iron is then tasked with carrying oxygen in the blood hemoglobin.

However, the amount of iron that is too much in the body is disturbing. If left untreated, this buildup can damage joints, and organs, or even cause death.

Some of the diseases that can occur due to undiagnosed and untreated hemochromatosis are:

  • Arthritis (osteoarthritis, osteoporosis)
  • Liver cirrhosis or liver cancer
  • Skin color becomes brown, reddish, or grayish
  • Irregular heartbeat, enlarged heart or heart failure
  • Diabetes, hypothyroidism, hypogonadism (infertility or impotence)
  • Enlarged spleen
  • Cancer

Symptom  

Symptoms of hemochromatosis vary from person to person. Many don’t even realize it. The most common symptoms of hemochromatosis are chronic fatigue and joint pain. Unfortunately, these symptoms often appear in other diseases, so the diagnosis is often delayed.

A fairly typical symptom of hemochromatosis is the iron fist, which is pain in the index and middle knuckles. However, not all sufferers experience these symptoms.

Other symptoms include:

  • weak
  • not excited
  • abdominal pain
  • loss of sex drive or impotence
  • heart pounding
  • irregular heartbeat
  • joint pain

Reason

There are two types of hemochromatosis:

  • The first type is primary (classic) hemochromatosis which is also the most common. This genetic mutation disorder is passed down in families. Sufferers absorb iron in excess from daily food. Under normal conditions, the body usually absorbs about 8–10% of iron from food.
    Patients with hemochromatosis can absorb four times more iron than normal body conditions. Unfortunately, the body cannot get rid of excess iron on its own. The result is a buildup of iron in organs such as the heart, liver, pancreas, joints, and pituitary gland.
    Usually in men, these symptoms are experienced between the ages of 40-60 years. While in women it can appear after menopause. In this primary type there is another special type, namely juvenile hemochromatosis (occurs at the age of 15-30 years) and neonatal (infants).
  • The second type is secondary hemochromatosis. Iron buildup in this condition occurs due to other diseases such as:
    • Anemia
    • Chronic liver disease
    • Too frequent blood transfusions
    • Kidney dialysis or dialysis

Diagnosis

It is difficult to make a diagnosis of hemochromatosis because the symptoms are very similar to those of other diseases. Several investigations need to be done to confirm the diagnosis.

These tests include blood tests to determine iron levels in the blood. DNA testing can also be done to check for genetic mutations. Sometimes a liver biopsy is also needed to look for iron or liver damage. This liver organ needs to be examined earlier because the most iron is stored in the liver.

Treatment

Treatment of hemochromatosis is phlebotomy or phlebotomy. This procedure can be done regularly to remove excess iron.

At first, phlebotomy can be done 2 times a week. After that it is possible to do it 4–6 times per year. Although useful, this procedure is not quite popular or liked because it has side effects such as fatigue, pain, and anemia due to too much blood being removed.

Another therapy is chelating treatment. This drug can be taken orally or injected into the body. The drug works by removing iron through the urine and during bowel movements.

Prevention 

In principle, primary hemochromatosis cannot be prevented. The risk will increase in conditions such as family history, are of European race, and in postmenopausal women.

Meanwhile, secondary hemochromatosis can be avoided by avoiding risk factors such as: alcohol consumption, checking if there is a history of diabetes in the family, experiencing heart problems and liver disease, and consuming excessive iron or vitamin C supplements.

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