Hemochromatosis – What it is, Symptoms and Treatment that everyone should be aware of. In addition, Hemochromatosis is a disease characterized by the occurrence of iron deposits in tissues as a result of its excess in the body. The main sites of deposit are the liver , pancreas, heart and pituitary gland, which may result in the gradual loss of their functions. So, check out everything about Hemochromatosis – What it is, Symptoms and Treatment:
What is Hemochromatosis: Hemochromatosis is characterized by the accumulation of Iron in the tissues. This increase occurs when the iron supply exceeds the body’s need. Excess iron can accumulate in different tissues and cause serious injury. The most affected tissues are: heart, liver and pancreas.
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Symptoms of Hemochromatosis: The most common symptoms of Hemochromatosis are:
- joint pain
- Abdominal pain
- erectile dysfunction
- Loss of hair
- unintentional weight loss
- psychiatric outbreaks
- neurological problems
- Uneven skin color.
Causes of Hemochromatosis : Geneticor hereditary hemochromatosis is most commonly associated with a defect in a gene called HFE, located on chromosome 6, which helps regulate the amount of iron absorbed from food. There are two important known mutations in this gene, called C282Y and H63D. C282Y is the most important.
When this mutation is inherited from both parents, excess iron absorption can occur and disease can result. H63D usually causes a small increase in iron absorption , but if a person receives H63D from one parent and C282Y from the other, hemochromatosis can develop .
The genetic defect is already present at birth, however symptoms rarely appear before adulthood. A person who inherits the defective gene from both parents can develop Hemochromatosis .
An individual who inherits the defective gene from only one parent is a carrier of the disease gene, but usually does not develop it. However, carriers may have a slight increase in iron absorption .
It is important to note that not all carriers of genetic mutations predisposing to hemochromatosis will develop iron overload and disease.
Risk Factors: Hereditary hemochromatosis is one of the most common genetic diseases. It usually affects individuals of white ethnicity (Caucasians) of Northern European descent, although other ethnic groups are also affected.
In the United States, 0.5% (5 people in 1,000) of the Caucasian population carry two copies of the Hemochromatosis gene and are susceptible to developing the disease. One person in 8 to 12 is a carrier of the abnormal gene. In other ethnicities, the disease is less common.
Although both men and women can inherit the genetic defect, men are five times more likely to be diagnosed with Hemochromatosis due to its effects. Men also tend to develop problems due to excess iron at a younger age.
Treatment of Hemochromatosis: The treatment is simple, safe and inexpensive. The first step is to rid the body of excess iron . This is accomplished through a procedure called phlebotomy (bleeding), which is the withdrawal of blood.
About 500 ml of blood is drawn periodically, usually for months. Periodic control exams are carried out to monitor iron levels .
The goal is to bring your ferritin levels back to normal and keep them that way. The duration of phlebotomies will depend on the degree of iron overload present at diagnosis.
Once levels have normalized, maintenance therapy begins – which involves drawing 500 ml of blood every 2 to 3 months. Some people may need more frequent phlebotomies. As in the previous phase, periodic examinations are carried out to control the treatment.
The sooner hemochromatosis is diagnosed and treated, the better. If treatment begins before there is damage to target organs, complications such as liver and heart disease, arthritis and diabetes can be avoided. The prognosis for people who already have complications depends on the degree of damage that exists.