Is there a cure for hemochromatosis?

**What is hemochromatosis?** **Hemochromatosis** or excess iron disorder is one of the most common hereditary diseases characterized by excessive absorption of iron. Normally, the human body stores extra iron in the joints and various organs of the body, especially the liver, but in a person suffering from hemochromatosis, the body's iron reserves keep increasing so that over time, the liver becomes enlarged and damaged, as a result of which serious diseases such as liver cirrhosis are observed in the person. In addition to this, other problems such as heart disease, diabetes and arthritis may also occur due to excess iron storage. This disease is seen in men and women, although hemochromatosis is usually seen in women late in life and during menopause, because regular menstrual periods deplete the body of iron. Hemochromatosis is underdiagnosed because its symptoms are similar to those caused by a wide range of other diseases. **types of hemochromatosis** There are different types of hemochromatosis, which we will introduce below. **Hemochromatosis type 1 and 4:** The symptoms of this type of disease appear for the first time in adulthood. Symptoms start to appear in men between the ages of 40 and 60, but in women, symptoms appear after menopause. Type 1 hemochromatosis is usually more common than type 4. **Hemochromatosis type 2:** The symptoms of hemochromatosis type 2 may appear in childhood and it affects a person's sex hormones until the age of 20. In the case of girls, their periods may start regularly but may stop after a few years. Having this disease may delay puberty in boys, and if left untreated, both men and women may develop heart disease by the age of 30. **Hemochromatosis type 3:** This type of hemochromatosis is a combination of types 1 and 2 and its symptoms may appear at the age of 30. **symptoms of hemochromatosis** Primary hemochromatosis has no symptoms. However, in the later stages, different symptoms appear in the person. Of course, the symptoms of hemochromatosis are not the same in all people, and many of its symptoms are similar to those caused by other diseases, which is why this disease is not diagnosed in many cases. Some of the symptoms of hemochromatosis are: - Weakness and lethargy - Weight loss - Joint pain, usually in the second and middle finger joints - Abdominal pains - Liver dysfunction - Sexual disorders, such as impotence and low libido - Menstrual disorders, such as premature menopause - Loss of body hair - Skin darkening

**Causes of hemochromatosis** Hemochromatosis is a genetic disorder caused by mutations in the hemochromatosis gene (HFE). Considering that hemochromatosis is a recessive genetic disorder, a person must have inherited the gene mutation from both parents to get this disease. If a person inherits only one mutated HFE gene, they are known as carriers. One out of seven people carries the mutated HFE gene. The carrier does not get the disease, but may pass the mutation on to his children. If two carriers marry, there is a 50% chance that their child will inherit a mutated HFE gene and be a carrier. In this case, there is a possibility that one of every four children will inherit both mutated HFE genes and get the disease. By performing a simple blood test, it is determined whether a person carries mutated HFE genes or not. **How is hemochromatosis diagnosed?** Diagnosing hemochromatosis from the symptoms can be difficult because the symptoms may be similar to those of other diseases. The doctor may decide to refer the person to a hepatologist. Performing some tests such as blood test, liver test, MRI and genetic test also help the doctor in diagnosing hemochromatosis. Two types of blood tests can detect excess iron in the body even before symptoms appear, including: - Serum transferrin saturation test that measures the amount of iron bound to transferrin. Transferrin is a protein that transports iron in the blood. - The serum ferritin test also measures the amount of iron stored in the body. Knowing these levels helps the doctor to diagnose a person and monitor them during treatment. To diagnose hemochromatosis, it is necessary to perform both blood tests and it may be necessary to repeat them to increase the accuracy, because the blood ferritin level may increase in different conditions. Of course, these tests are usually only performed if a person's parent, child, or sibling has hemochromatosis. ### **However, people may undergo these tests if they have any of the following symptoms:** - Heart disease - Diabetes disease - Detailed problem - Increased liver enzymes - Extreme fatigue - Erectile dysfunction The following additional tests are usually done to confirm the diagnosis of hereditary hemochromatosis: - Performing a genetic test that determines whether a person carries the HFE gene or not. - MRI scan to check the level of iron in the liver - Liver biopsy that determines the level of iron in the liver and indicates cirrhosis or other damage. Of course, this test is less popular today.

**Hemochromatosis Treatment** In most cases, doctors treat hemochromatosis with phlebotomy, or drawing about half a liter of blood at a specific time on a regular schedule. This treatment method is the most direct and safest way to reduce the body's iron reserves. By treating hemochromatosis, its symptoms are improved and the complications of this disease are prevented. - ### **Phlebotomy** Phlebotomy is a simple, cheap and safe procedure that removes excess iron from the patient's blood. Phlebotomy is usually performed at blood banks and the procedure is just like normal blood donation. In some cases, blood taken from people with hemochromatosis may be donated. It is used in people who need blood transfusion. The amount of blood drawn and the frequency of phlebotomy depends on the patient's iron level. Blood sampling is usually done once or twice a week for several months. 500 cc of blood is taken each time. After the excess iron is removed by phlebotomy and blood iron and ferritin levels return to normal, phlebotomy is reduced to once every 1 to 3 months and finally to 2 to 3 times a year. Of course, blood tests will be done regularly to check iron and ferritin levels. - ### **other treatment methods** In people who receive blood transfusions to treat certain types of anemia and have secondary hemochromatosis, they cannot perform phlebotomy to reduce iron levels. In these people, drugs are prescribed to treat secondary hemochromatosis, which bind to iron and remove excess iron from the body through urine. These drugs are taken orally or intravenously. Of course, they do not remove as much iron as phlebotomy. Neonatal hemochromatosis is treated with blood transfusion (removal of blood and replacement with donor blood) and immunoglobulin, a solution of antibodies from healthy people. In some cases, a liver transplant may be needed. Often the baby's mother or father can be a liver donor. In this situation, only a small part of the adult donor's liver is needed for the transplant to the baby. **Method of treatment of complications of hemochromatosis** If hemochromatosis is not treated, it may lead to pancreatic problems, diabetes, liver problems, especially liver cirrhosis and liver cancer, heart problems such as congestive heart failure and abnormal heartbeat, loss of libido in men, disruption of the menstrual cycle in women, and skin discoloration due to iron deposition in skin cells. Phlebotomy can prevent the complications of hemochromatosis. For people who have cirrhosis, liver failure, or liver cancer when hemochromatosis is diagnosed, phlebotomy may not restore their health. Many complications of cirrhosis are treated with medications, minor medical procedures, and surgery. People with liver failure or liver cancer usually need a liver transplant to restore health. **Can hemochromatosis be prevented?** It may not be possible to prevent the inheritance of the mutated HFE gene, but early detection is important. Because early treatment with phlebotomy can prevent the complications of this disease caused by gene mutations. If one of the person's close relatives (parents, brother or sister, or child) is suffering from hemochromatosis, the person must do diagnostic tests. Secondary hemochromatosis caused by blood transfusion is not easily preventable. However, a person's iron levels are checked before too much iron causes damage to the liver, joints, and other organs. Its treatment begins with medication. If a pregnant woman is at risk of developing neonatal hemochromatosis due to a family history of this disease. Usually, pregnant women are treated with IV immunoglobulin to reduce the possibility of increased iron stores in the baby. **How long does it take for excess iron to be stored in the body?** Predicting the rate of iron accumulation in a given patient is difficult and varies from person to person. For some people, it may take many years for iron accumulation to cause problems. But, in some people, it can happen quickly after 10 to 15 injections (20 to 30 units of red blood cells). That's why it's important to have your blood iron levels tested regularly if you have certain symptoms. **Does the accumulation of excess iron immediately make a person sick?** Accumulation of excess iron works differently on each person and it is not possible to definitely express specific symptoms for this disease. Some symptoms of hemochromatosis are similar to many other diseases. Symptoms include fatigue, weakness, abdominal pain, decreased libido, and joint pain. That is why it is difficult to recognize. ** Dos and don'ts of hemochromatosis disease management** Some things are recommended to manage hemochromatosis: - Having a balanced diet in which red meat consumption is avoided and more fruits and vegetables are consumed. - If a person has heart disease caused by hemochromatosis, he should limit exercise. - In case of abdominal pain, swelling or jaundice, it is necessary to discuss with the doctor. - The use of iron or vitamin C tablets should be avoided because their use can increase the harmful effects of iron. **The last word is...** In hemochromatosis, iron is excessively absorbed and accumulated by the body. Over time, the accumulation of excess iron in the body can cause damage to various organs such as the liver, heart, and pancreas. Hemochromatosis is treatable and the sooner it is diagnosed, the more its complications can be prevented. Phlebotomy, which is similar to blood donation, is the most important and simplest method for treating hemochromatosis. You can contact us for more information and advice. Stay in touch with us

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