Everything you need to know about hereditary hemochromatosis.

**Hereditary hemochromatosis** Iron is a valuable substance for the body, the lack of which has problems, and at the same time, if it accumulates and an excessive amount of iron is stored in the body, other problems also occur. As a result of excessive accumulation of iron in a person's body, hemochromatosis is caused in a person. Hemochromatosis occurs either due to genetic defects and mutations in genes, or due to other diseases causing the appearance of this disease. The most common form of hemochromatosis is known by different names, including type I hemochromatosis, HFE-related hemochromatosis, hereditary hemochromatosis, and classic hereditary hemochromatosis. In classic hereditary hemochromatosis, the accumulation of iron occurs slowly and over many years, which eventually causes tissue damage and dysfunction of the affected organs. In many affected people, the symptoms of this disease may not appear until the ages of 40 to 60 years. Symptoms of this disease usually appear earlier in men compared to women. In general, the common symptoms of hereditary or classic hemochromatosis include abdominal pain, weakness, lethargy, and unwanted weight loss, and if not treated, the disease may progress and cause serious complications such as failure of the affected organs. Several different disorders are associated with excessive accumulation of iron in the body. Collectively, these various disorders are grouped under the heading of iron excess disorders. These disorders are caused by different gene mutations and have different clinical symptoms. Classical hereditary hemochromatosis is caused by the mutation of the HFE gene. **Symptoms and signs of hereditary hemochromatosis** The symptoms of classic hereditary hemochromatosis develop gradually over many years due to excessive accumulation of iron in the body. The severity of this disorder may also be different. Some people may have mild and unrecognized symptoms, but others may develop serious complications such as organ failure. Additional symptoms may occur depending on the specific organs involved. In classic hereditary hemochromatosis, the liver, pancreas, heart, and skin are most commonly affected and (if left untreated) can potentially lead to serious complications. The symptoms of this disease usually appear between the ages of 40 and 60. Of course, these symptoms may appear sooner or later. It is rare for a person to have symptoms before the age of 20. The specific symptoms that occur may vary depending on the specific organs that are affected. Common early symptoms of classical hereditary hemochromatosis include joint inflammation and pain (arthritis), especially in the small joints of the fingers, fatigue, weakness, abdominal pain, unwanted weight loss, and abnormally enlarged liver (hepatomegaly). An abnormally enlarged spleen (splenomegaly) may also occur. - **liver abnormalities** Liver abnormalities associated with classical hereditary hemochromatosis include hepatomegaly, and liver scarring (cirrhosis), high blood pressure in branches of the portal vein, the main vein that carries blood from the intestine to the liver. If this disease is not treated, it can progress and cause liver failure. At the beginning of hemochromatosis, there may be no symptoms and it is diagnosed through liver related tests. - **heart abnormalities** People with classical hereditary hemochromatosis may experience a variety of heart abnormalities, such as irregular heart rhythms, enlarged hearts, and heart muscle disease (cardiomyopathy). Finally, affected individuals may have a limited ability to circulate blood to the lungs and the rest of the body, resulting in fluid accumulating in the heart, lungs, and various body tissues. - **change in skin color** Another symptom of hereditary hemochromatosis is the gradual darkening of skin spots, which is sometimes called tanned skin. This condition occurs due to the accumulation of melanin in the patient's skin. - **Sexual impotence** Some men with classical hereditary hemochromatosis may have underactive testicles, and some women may have underactive ovaries (hypogonadism). In such cases, the testicles and ovaries are not able to produce enough sex hormones. - **Disorder in the pituitary gland** The pituitary gland may also be affected in people with classical hereditary hemochromatosis. In some people, the pituitary gland may not be able to produce enough of some or all of the hormones naturally, causing a variety of symptoms, including fatigue, headaches, and abdominal pain. Symptoms of impotence in men and early menopause in women may also be observed. - **Additional symptoms of hereditary hemochromatosis** Other symptoms such as hypothyroidism, shortness of breath, loss of cartilage between joints (osteoarthritis), overall loss of bone mass (osteoporosis), and unusual body hair loss (baldness in men) may also occur in people with classical hereditary hemochromatosis. **Disease occurrence due to HFE gene mutation** Classical hereditary hemochromatosis is caused by the mutation of the HFE gene. Hepcidin is a specialized protein that is the main regulator of iron absorption in the body, including the regulation of iron absorption by the digestive system. Mutation of the HFE gene results in deficient levels of functional hepcidin in the body, which in turn leads to excessive absorption of iron in the gastrointestinal tract. Iron is a vital mineral that is essential for the proper functioning and proper growth of the body. This valuable mineral is found in various foods such as red meat, chicken, eggs and vegetables. The human body needs a certain level of iron to function properly, otherwise, as a result of an imbalance in the amount of iron in the body, a person will suffer from anemia (due to a low level of iron) or damage to damaged organs (due to a high level of iron). Accumulation of excess iron in the body eventually accumulates in the tissues and organs of the body and damages the function of the affected organs and finally leads to the symptoms of classic hereditary hemochromatosis. **Which people are most affected?** Hemochromatosis is more common in men than women. Also, the average age of diagnosis in women is approximately 10 years later than in men, and it usually occurs after menopause.

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

**Types of hereditary hemochromatosis** 4 types of hereditary hemochromatosis are diagnosed in people: 1) Hereditary hemochromatosis (classic), which is also known as HFE-related hemochromatosis or hemochromatosis type I. 2) hemochromatosis type 2 (juvenile hemochromatosis) 3) Hemochromatosis type 3, which is also known as hemochromatosis related to TFR. 4) Hemochromatosis type 4, which is also known as Ferroportin disease. Symptoms related to this type of disorder vary depending on the location and amount of iron accumulation, but in general, the most common symptoms include fatigue, abdominal pain, lack of libido, joint pain, and heart abnormalities. If hereditary hemochromatosis is not treated, the accumulation of iron in various organs can cause serious complications. - Secondary hemochromatosis Secondary hemochromatosis is caused by other known diseases. Examples of diseases that cause secondary hemochromatosis include: Thalassemia major Sideroblastic anemia Chronic hemolytic anemias Friedreich's ataxia Aceruloplasminemia. Chronic alcoholic liver disease **Method to diagnose hereditary hemochromatosis** The diagnosis of classical hereditary hemochromatosis is based on the identification of characteristic symptoms, detailed history of the patient, complete clinical evaluation and various specialized tests. Early diagnosis based on clinical features can be difficult, as some people with mild or moderate iron overload may have no symptoms. Therefore, it is important that anyone with symptoms such as sudden enlargement of the liver (hepatomegaly), liver ulceration (cirrhosis), increased skin pigmentation, loss of sex drive (libido), heart muscle disease (cardiomyopathy), diabetes mellitus, or joint inflammation (arthritis) be evaluated.

**Suggested study: What is hemochromatosis?**

- **blood test** If hemochromatosis is suspected, a blood test is performed to detect an abnormal increase in blood iron levels. To check the increase of iron in the blood, serum ferritin level and increase of transferrin are checked. - **liver biopsy** Liver biopsy (percutaneous needle biopsy and microscopic study of liver tissue) is used to help diagnose classical hereditary hemochromatosis. Of course, today, genetic testing is used to diagnose the disease. Liver biopsy may also be useful in determining the presence and extent of liver cirrhosis. - **MRI** Specialized imaging tests such as MRI are also used to look for increased liver density due to excess iron accumulation. MRI uses a magnetic field and radio waves to provide detailed images of specific organs and tissues, such as the liver. - **genetic test** The diagnosis of classical hereditary hemochromatosis is also confirmed by molecular genetic testing. In this test, specific mutations on the HFE gene that can cause this disorder are identified. Family members of individuals diagnosed with hereditary hemochromatosis should also be screened. **standard treatment methods** Classical hereditary hemochromatosis is treated by removing excess iron from the body. Considering that most of the body's iron is in red blood cells, to treat this disease, blood is regularly taken through a vein (phlebotomy). Phlebotomy is a simple and safe procedure and is similar to when a person gives blood. For the treatment of hereditary hemochromatosis, at first, a person may need to perform phlebotomy once or twice a week, and weekly phlebotomy may continue for about two years. Once a person's iron levels return to normal, phlebotomy may be performed periodically (for example, approximately once every three months for men and once or twice a year for women). However, treatment to remove excess iron is necessary in individuals who already have clinical symptoms of classical hereditary hemochromatosis to help prevent chronic disease, organ damage, and potentially life-threatening complications. In rare cases where treatment with a blood draw and phlebotomy is not possible (for example, in people with anemia, heart disease, or advanced cirrhosis), the drug deferoxamine may be used to help reduce excess iron levels in the body. Defroxamine is a drug that binds to iron in the body, allowing it to dissolve in water and be eliminated from the body through the kidneys. There are other drugs that are prescribed by the doctor to treat this disease. In cases where the spread of the disease causes damage to a person's liver, people with end-stage liver disease may need a liver transplant. **The last word is...** Hereditary hemochromatosis is transmitted from parents who are carriers of the disease to their children. Therefore, if even one person in a family is suffering from hemochromatosis, he should perform diagnostic tests to prevent the progression of the disease and damage to different organs of the body. Hereditary hemochromatosis may not show symptoms for years, and a person can only be diagnosed with this disease through a blood test or genetics. But in any case, it is possible to treat this disease if it is diagnosed in time. The doctor prescribes various treatment methods, such as taking blood (phlebotomy) or using medicine, based on gender, age and the progress of the disease. Along with these contraindications, iron-containing foods and supplements such as multivitamins are also recommended. You can contact us for more information. Contact us

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