Hemochromatosis is a condition in which the body absorbs an excess amount of iron from the food we consume. These absorbed iron are stored in the different organs of the body, such as the liver, pancreas, and the heart. Ideally, the intestines absorb just the right and sufficient amount of iron into the body, from the food we consume. The body doesn’t have a mechanism of eliminating iron from the body. This is why having a large amount of iron in the body is dangerous, and can be life-threatening if not well managed. The iron overload damages the organs, where it’s stored. As earlier mentioned, they include the liver, the heart and the pancreas. Studies have shown that there are two types of hemochromatosis, they include the following;
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- Primary Hemochromatosis: This type of hemochromatosis is hereditary. This implies that it’s passed from parents to their children, and it continues that way, from generation to the next generation. However, this disease is autosomal recessive, which means that you’d need to receive the defected genes from both your father and mother to develop the disease. People that have parents or relatives with this disease have a higher chance of developing primary hemochromatosis.
- Secondary hemochromatosis: This is the type of hemochromatosis that develops because of other conditions. Below are some of the conditions;
- Some type of anaemia
- Diseases of the liver
- Receiving a lot of blood transfusions
Studies have shown that this disease is more prevalent in people of European descent. In addition, this disease is more likely to occur in men than in women. The disease is mostly treated by phlebotomy. This is also referred to as bloodletting. It’s a process where the blood of the patient is drained. This is mostly done weekly, biweekly to bring down the blood iron level to the normal range. A typical phlebotomy session will drain between 450ml-500ml of blood from the patient. In addition, patients are advised to consume foods that are low in iron. Examples of food that contains a high amount of iron include beef, buffalo, fish and so on. Physicians also prescribe medications, such as deferoxamine. 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. Exosomes are also important in the treatment of this disease.
What Are The Signs And Symptoms Of Hemochromatosis?
People affected with hemochromatosis do present with signs and symptoms differently. On one hand, some patients do not present with any manifestations, while others do. However, the early signs and symptoms do share similarities with other medical conditions. Below are some of the early common symptoms of hemochromatosis;
- Abdominal pain
- Pain in the joints
- Weakness
- Fatigue
Below are some of the signs and symptoms that are presented later, as the disease progresses;
- Diabetes mellitus
- Loss of libido: This is a condition where the patient loses his/her sexual drive
- Impotence
- Cardiovascular diseases: This occurs because ideally, iron tends to store in the heart. Hemochromatosis would cause a high amount of iron to be deposited in the heart.
- Heart failure
- Liver diseases
When Do The Signs And Symptoms Start Manifesting?
The signs and symptoms of this disease typically present at birth. However, a lot of people do not manifest any signs and symptoms until much later in life, especially between the ages of 50 and 60 in males, and after the age of 60 in women. This is because women tend to lose blood every month due to menstruation. They stop menstruating after the age of 60, which is when hemochromatosis starts manifesting.
What Are The Causes Of Hemochromatosis?
Hereditary hemochromatosis occurs as a result of a mutation in the gene that controls the amount of iron in the body, especially the quantity absorbed from digested food. These mutations can be passed down from parents to their children. The gene that causes hereditary hemochromatosis is known as the HFE gene. This gene can be detected through genetic testing. This gene can be expressed in two ways. These are;
- A patient would develop hemochromatosis if he/she inherits 2 abnormal genes. These genes can also be passed on to their children. However, it is important to note that inheriting the two genes does not translate to the development of the hemochromatosis that is connected with the iron overload of hemochromatosis.
- A patient would not develop hemochromatosis if he/she inherits an abnormal gene. However, the individual is referred to as a carrier of the mutation gene. They can also pass the genes to their children. The children would not develop the disease unless they also inherit another mutated gene.
What Are The Risk Factors Of Hemochromatosis?
- Heredity: Hemochromatosis is an autosomal recessive disease. A child would have to receive two defected genes from his/her parent to develop the disease. This is the most risk factor for the disease.
- Family history: An individual that has a family or relative that has or had the disease have a high chance of developing the disease.
- Race: Research has shown that this disease is more prevalent in people from the Northern part of Europe. On the other hand, this disease is less common in descents of African American, Hispanics and Asians.
- Gender: Studies have shown that men are more likely to develop this disease at an early age, as compared to women. On the other hand, women tend to develop this disease, after menopause
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.
