Symptoms of hemochromatosis

**What is hemochromatosis?** Hemochromatosis is a disorder in which the body stores too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints. Too much iron is toxic to the body and over time can damage various tissues and organs of the body and lead to problems such as: - Cirrhosis (liver damage) - Hepatocellular carcinoma (liver cancer) - Heart problems - Arthritis (joint pain) - Diabetes. **types of hemochromatosis** Two types of primary and secondary hemochromatosis are diagnosed in patients, each of which has a different cause. - ### **primary hemochromatosis** Primary hemochromatosis is caused by defects in genes that control the absorption of iron from food. This form of the disease is sometimes called hereditary or classic hemochromatosis. Primary hemochromatosis is more common than the secondary form of this disease. Hereditary hemochromatosis causes the patient's body to absorb a lot of iron from the food they eat. Excess iron is stored in the body's organs, especially the liver, heart, and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems, and diabetes. The genes that cause hemochromatosis are inherited, but only a small number of people who have these genes develop serious problems. Signs and symptoms of hereditary hemochromatosis usually appear in middle age. The genes involved in primary hemochromatosis are called HFE genes. Defective HFE genes cause excessive absorption of iron in the body. If a person inherits two copies of the defective HFE gene (one copy from each parent), they are at risk for iron overload and signs and symptoms of hemochromatosis. But if a person inherits a defective HFE gene and a normal HFE gene, he is known as a hemochromatosis carrier. Carriers usually do not develop the disease, but they can pass the defective gene on to their children. And if two parents are carriers of the defective HFE gene, there is a 25% chance that their children will have hemochromatosis by inheriting two defective HFE genes. Of course, in addition to this gene, some other defective genes may also cause hemochromatosis, but other cases are less common. Currently, researchers are investigating what changes in natural genes may cause this disease. Mutations in other genes that control iron levels in the body usually cause 10 to 15 percent of primary hemochromatosis. These rare forms are called non-HFE hemochromatosis. The most severe forms of non-HFE hemochromatosis occur due to mutations in the NIH HJV genes or the NIH HAMP genes. People with these mutations develop symptoms and complications at a young age and may develop cirrhosis and other complications from excess iron in adolescence.

**Study suggestion: suitable diet for people with hemochromatosis**

- ### **Secondary hemochromatosis** Secondary hemochromatosis is another form of the disease that causes excess absorption of iron in the body. Some of the diseases that cause secondary hemochromatosis are: - Certain types of anemia such as thalassemias and sideroblastic anemia - Atransferrinemia and aceruloplasminemia - both are rare and hereditary diseases - Chronic liver diseases, such as chronic hepatitis C infection, alcoholic liver disease, or nonalcoholic steatohepatitis Other factors can also cause secondary hemochromatosis, such as: - Blood transfusion - Taking oral iron tablets or iron injections, with or without high intake of vitamin C - Long-term kidney dialysis A common cause of secondary hemochromatosis is blood transfusions for severe forms of anemia, such as sickle cell disease, or thalassemia. In addition, people with bone marrow failure and severe anemia may need regular blood transfusions over months or years. Red blood cells are a rich source of iron, and red blood cells given through blood transfusions can lead to high levels of iron that the body does not have a good way of excreting. In the past, excess iron absorption was a common problem in people with kidney failure. But today, the use of erythropoietin to treat anemia in chronic kidney disease in people with kidney failure has reduced the possibility of excess iron absorption in these people. Erythropoietin helps the body make red blood cells, reduces stored iron levels, and reduces the need for blood transfusions. Excess iron storage in the liver also occurs in people with severe liver disease such as cirrhosis from alcoholic liver disease or advanced forms of chronic hepatitis B or C. In this situation, the level of iron in a person's body is so high that it can worsen the underlying diseases related to the liver. An excessive increase in the amount of iron in a person's body, which is caused by excess iron in their diet, is rare. - ### **Adolescent hemochromatosis** This disease causes the same problems in teenagers that hereditary hemochromatosis causes in adults. Their difference is that the accumulation of iron in this type of hemochromatosis starts much earlier and its symptoms usually appear between the ages of 15 and 30. This disorder is caused by mutations in hemoglobin or hepcidin genes. - ### ** Neonatal hemochromatosis** Neonatal hemochromatosis is a very rare disease that leads to cirrhosis and liver failure in infants. In most cases, neonatal hemochromatosis occurs when a pregnant woman's immune system produces antibodies that damage the fetus's liver and cause excess iron storage. A woman who has one child with neonatal hemochromatosis is at risk of having a second or third child with the disease. Of course, to help prevent neonatal hemochromatosis, these women are cared for and treated during pregnancy. In this severe disorder, iron rapidly accumulates in the liver of the developing fetus in the womb. This type of disease is thought to be an autoimmune disease where the body attacks itself. **Symptoms of hemochromatosis disease** Some people with hereditary hemochromatosis do not show symptoms, but the initial signs and symptoms of this disease often overlap with the symptoms of other common diseases, and in general, these signs and symptoms may include the following: - Pain in the joints, especially in the knees and hands - Abdominal pain in the liver - Fatigue - Weakness - Diabetes - Loss of libido - Impotence - Heart failure - Liver failure - Darkening of skin color that may appear gray, metallic or bronze - Brain fog and memory

** Study suggestion: What is hemochromatosis?**

**When do symptoms of hemochromatosis appear?** Hereditary hemochromatosis is present in a person at birth, but most people do not show signs and symptoms of this disease until late in life. Usually, after the age of 40 in men and after the age of 60 in women - women after menopause - when their body iron is no longer lost through menstruation and pregnancy, they experience more symptoms. As mentioned, many people with hereditary hemochromatosis do not know that they have it. Early symptoms, such as feeling tired or weak, are common and can cause hemochromatosis to be confused with a variety of other diseases. Most people with hereditary hemochromatosis never show any symptoms or complications. **How can you know that a person has hereditary hemochromatosis?** A blood test is used to screen for people who may have hemochromatosis. People with hemochromatosis, whether they have a family history or no family history, can be diagnosed through a blood test to check for iron and then a genetic test if they are symptomatic or have complications. **How can the complications of hereditary hemochromatosis be prevented?** If you or a member of your family has hereditary hemochromatosis, you should see a doctor. Your doctor may suggest ways to reduce the amount of iron in your body. The earlier hemochromatosis is diagnosed, the less likely it is to develop serious complications because these complications may cause many permanent problems. If the doctor diagnoses hemochromatosis, the most effective way to reduce the amount of iron in the patient's body is to remove blood according to a regular schedule, which is called phlebotomy. In addition, the doctor may also recommend the following: - Annual blood test to check the level of iron in the patient's body - Liver biopsy to check for cirrhosis - Iron chelation treatment for people who cannot remove blood. - Dietary changes, such as avoiding multivitamins, vitamin C supplements, and iron supplements, which can increase iron in a person's body. - Not using alcohol (because alcohol increases the risk of liver damage). - Measures to prevent infections, including not eating uncooked fish and shellfish - Receiving recommended vaccines, including anti-hepatitis A and B vaccines **When should we see a doctor?** See a doctor if you see any of the signs and symptoms of hereditary hemochromatosis. If a close family member has hemochromatosis, ask your doctor about genetic testing that can determine whether you have inherited a gene that increases your risk for hemochromatosis. **How hemochromatosis affects body organs** Iron is an essential mineral for humans, which plays an essential role in various body functions, including helping to form blood. But too much iron is toxic to the body. In the body, there is a hormone called hepcidin, which is secreted by the liver and normally controls the way iron is used and absorbed in the body, as well as the way excess iron is stored in various organs. In hemochromatosis, the normal role of hepcidin is disrupted and causes the body to absorb more iron than it needs. This excess iron is stored in major organs, especially the liver. Over the years, stored iron can cause severe damage to various organs and lead to organ failure and chronic diseases such as cirrhosis, diabetes and heart failure. Although many people have defective genes that cause hemochromatosis, not everyone stores enough iron to cause damage to tissues and organs. **Hemochromatosis disease treatment method** Depending on the type of disease and its progress, treatment methods can be performed as follows. If the disease is diagnosed and treated quickly, the person's body will not be affected by the complications caused by this disease. - ** phlebotomy method** phlebotomy In the phlebotomy method, which is similar to donating blood, the blood of a person with hemochromatosis is removed to reduce the excess iron in the body. This method is the most common method used to remove excess iron from a person's body. Based on the general condition of the person, age, gender and severity of the disease, phlebotomy is performed at a certain time interval. But in general, in the early stages of the disease, phlebotomy is performed every one or two weeks, and about half a liter of blood is taken from the person each time. As the level of iron in the person's body approaches the normal level, blood sampling is done every 4 months. In cases where the amount of iron in the body returns to normal, there will be no need to continue phlebotomy, but some people may need to repeat this treatment method monthly. It should be noted that phlebotomy is not effective in the treatment of liver cirrhosis and joint pain. - **drug use** For people from whom it is not possible to take blood, such as heart patients, medication is used as a treatment method for hemochromatosis. - **food abstinence** Along with the treatment methods, food abstinence and the prohibition of consuming iron-containing foods and dietary supplements are also recommended. **The last word is...** Hemochromatosis may be inherited or caused by some diseases, but this disease does not show any specific symptoms for years, and the symptoms that appear in a person may be confused with other diseases. Therefore, a blood test is needed to diagnose this disease. You can contact us for more information. Contact us

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