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This is a condition that causes the body to absorb the excess amount of iron into the bloodstream — this excess iron when absorbed stores in some of the organs of the body. Examples of the organs include the liver, heart, adrenal glands, skin and the pancreas. This condition can be severe and life-threatening if not well managed. Some of the signs and symptoms of this disease include tiredness, discomfort in the joints and bones, liver cirrhosis, erectile dysfunction, auditory problems, insulin resistance, abdominal pain and so on. The exact cause of the disease isn’t known yet. However, some factors that contribute significantly to the disease have been identified. Some of these factors include genetics. Genetics is largely responsible for the development of the disease. The genes that cause this disease are usually inherited. However, only a small fraction of those affected by the disease do present with severe symptoms. Physicians diagnose this disease by evaluating and examining the signs and symptoms of the patient. Also, they might also carry out further tests, such as blood screening, and liver function tests. A liver biopsy might also be done. Other tests that could be done include MRI, echocardiogram and so on. Physicians treat this disease by removing the blood of the patient, frequently. Treating the disease early helps to improve the symptoms, and also yield a good prognosis. Shockwaves are used for the treatment of infertility, especially in men. Infertility is one of the complications of hemochromatosis in men.

What Are the Signs and Symptoms of Haemochromatosis?

Hemochromatosis does affect many organs of the body. Patients do present with various signs and symptoms. Below are some of the signs and symptoms of the disease:

  • Tiredness: Persons affected with this disease do get tired often.
  • Pain: Patients also present with pain their body. This mostly affects the joint and the bones.
  • Abdominal pain: This is one of the most common symptoms of the disease.
  • Fatigue: Persons affected with this disease do get tired, after engaging in activities that they do without stress before they had the disease.

Above symptoms present at the early stage of the disease. However, patients do present with the following signs and symptoms at the later stage of the disease. These are the symptoms:

  • Diabetes: This condition is known as bronze diabetes. Mostly because of the dark skin presented by the patients when they have the disease.
  • Infertility: Men affected by hemochromatosis do present with impotence. The mechanism behind this isn’t known yet. This also affects females.
  • Liver failure: Patients do develop liver diseases, as a complication of hemochromatosis. The excess iron does get to store in the liver.
  • Heart diseases: Persons affected with the disease do present with heart diseases. One of the common conditions developed by patients is heart failure. The excess iron absorbed into the body gets stored in the heart. This might cause restrictive cardiomyopathy of the heart.
  • Arthritis: Patients might develop the arthritis of the hands. This might also affect the knee and the shoulder joints.
  • Other conditions: Other conditions that might occur also include deafness, parkinsonian symptoms and so on.

What Are The Causes Of Haemochromatosis?

Hemochromatosis mainly occurs as a result of the mutation of a gene. This gene is also referred to as the HFE gene. This can be detected by carrying out a genetic test on the patient.

How Does Hemochromatosis Affect the Organs?

Iron is an essential element in the blood. It’s useful in the formation of blood. However, an excess amount of iron in the body is bad and can be life-threatening in severe cases. Hepcidin, a hormone produced by the liver performs the function if regulating the level of iron in the blood. However, the function of this hormone is impaired in this disease. This leads to severe damage to the organs, and might subsequently lead to the failure of the major organs of the body, especially the organs iron stores in. There are different types of hemochromatosis. Some of them are below:

  • Juvenile hemochromatosis: This is the type that mainly occurs in young people. The deposition of iron usually begins at an early age. Patients start presenting with symptoms averagely between the ages of 15 and 30.
  • Neonatal hemochromatosis: This is a condition in which iron accumulates rapidly in a growing fetus. This is usually a severe condition. This is mostly caused by a disorder of the immune system.
  • Secondary hemochromatosis: This is the type that is not inherited, but develops as a result of iron overload. It mostly occurs in people that undergo a regular blood transfusion.

What Are The Risk Factors Of Hemochromatosis?

  • Family history: People who have relatives or siblings that are affected by hemochromatosis, have a high chance of developing the disease.
  • Gender: It has been proven that women are more affected by hemochromatosis than men. However, this is peculiar in older women, especially women who have attained menopause. This occurs because they’ve stopped menstruating, and are no longer losing blood.
  • Genetic makeup: People who have 2 copies of the HFE genes have very high probabilities of developing hemochromatosis.

How Is The Disease Diagnosed?

 Physicians diagnose this disease by evaluating and examining the signs and symptoms of the patient. Also, they might also carry out further tests, such as blood screening, and liver function tests. A liver biopsy might also be done. Other tests that could be done include MRI, echocardiogram and so on

How Is Hemochromatosis Currently Treated?

The main treatment for hemochromatosis is by frequent phlebotomies. This is a process whereby blood is taken from the patient regularly until the level of iron is brought to a normal range. There are also medications, used solely for the treatment of hemochromatosis. Examples of these drugs are deferoxamine and so on.

Hemochromatosis And Stem Cell Therapy

Bone marrow transplantation has proven to be effective in the treatment of this disease. Patients with severe cases of hemochromatosis were given new healthy stem cells, after removing blood from the patient. These patients showed significant improvements, as the new stem cells restored the expression of iron regulatory genes, including the HFE gene.

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References

Crawford, D. (2014). Hereditary hemochromatosis types 1, 2, and 3. Clinical Liver Disease, 3(5), pp.96-97.

Hemochromatosis. (2000). JAMA, 284(12), p.1581.

Numata, A., Tanaka, M., Tachibana, T., Matsumoto, K., Maruta, A., Ishigatsubo, Y. and Kanamori, H. (2012). Successful hemochromatosis following allogeneic stem cell transplantation for acute lymphoblastic leukemia. Journal of Hematopoietic Cell Transplantation, 1(1), pp.33-36.