Hemochromatosis is a condition in which there is an accumulation of iron in the body. The most common cause of hemochromatosis is genetics. Some people have a mutation in their genes. This mutation leads to the accumulation of iron in the body. The excess iron is stored in places like the liver, pancreas, heart and so on. In addition, having a large amount of iron in the body can lead to life-threatening conditions such as cardiovascular diseases, diabetes and so on. Some of the signs and symptoms of hemochromatosis include abdominal pain, joint pain, tiredness and the general weakness of the body. Scientists do buy stem cells online for the treatment of hemochromatosis.
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 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 Signs And Symptoms Of Hereditary Hemochromatosis?
Some people affected by hereditary hemochromatosis do not present with any symptom. However, some of the common early signs and symptoms of the disease include
- Joint pain
- Abdominal pain
Below are some of the signs and symptoms presented by patients in the later stage of the disease;
- Diabetes mellitus: This is a condition in which an individual has problems with the movement of glucose into the cells. This is due to insulin insufficiency, or insulin resistance.
- Loss of libido: This is a condition in which an individual loses his/her sexual drive.
- Impotence: This is a medical condition in which an individual loses the ability to get an erection. This condition is peculiar to men.
- Heart failure: This is a condition in which the heart fails to function well, especially in pumping blood around the body.
- Liver failure: This occurs due to the high level of iron deposit in the liver. The functions of the liver begin to be impaired, however, this might lead to liver failure, if it persists for a long time.
Hereditary hemochromatosis is present at birth, however, people don’t experience signs and symptoms until much later in life. This occurs in older people, especially people between the ages of 50 and 60. It has been discovered that hereditary hemochromatosis is more predominant in women than in men. This is because women tend to accumulate lots of iron in their body because they no longer lose iron through menstruation and pregnancy.
How Does Hemochromatosis Affect The Body Organs?
Iron is an important element in the body and is needed for several functions. Some of the function of iron in the manufacture of hemoglobin, which is needed for the transport of oxygen. However, having an abnormal level of iron in the body becomes toxic, and is capable of impairing the normal functions of the body. Hepcidin, a hormone secreted by the liver controls the level of the iron in the body. It controls and normalizes the amount of iron that is absorbed and used in the body. It also monitors and controls how iron is stored in the body, especially in the liver. The prolonged storage of a high amount of iron in the body can lead to an impairment in the functions of the organs. It might also lead to organ failure, diseases such as diabetes, heart failure and so on. Although this disease is caused by genetic mutation, it can also be caused by an iron overload. Below are the other types of hemochromatosis, asides from hereditary hemochromatosis.
- Juvenile hemochromatosis: This is the development of hemochromatosis in teenagers, and in young adults. Juvenile hemochromatosis occurs in people between the age group of 15 to 30. This mostly occurs as a result of a mutation in genes responsible for hepcidin.
- Neonatal hemochromatosis: This is a condition in which there is an abnormal amount of iron in the fetus. This is usually a severe disorder. It has been suggested that this might be an autoimmune disorder. An autoimmune disorder is one in which the body immune system fails to recognize the body tissues and goes ahead to attack it.
- Secondary hemochromatosis: This kind of hemochromatosis cannot be inherited, and can lead to iron overload. Patients affected by this disease might require series of blood transfusions before the excess iron can be resolved.
What Are Risk Factors For 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 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.
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.