– Hemochromatosis is a disorder in which the body absorbs too much iron from the food and supplements it consumes.
– The excess iron is stored in various organs, especially the liver, heart, and pancreas, where it can cause damage and lead to serious health problems.
Hemochromatosis can be inherited or acquired.
🔅 Causes of Hemochromatosis
– The most common cause of hemochromatosis is a genetic mutation in the HFE gene, which regulates how much iron is absorbed from the diet. People who inherit two copies of this mutation, one from each parent, have a higher risk of developing hemochromatosis. However, not everyone with two copies of the mutation will develop symptoms or complications. Other factors, such as age, gender, diet, and alcohol consumption, may also influence the severity of the condition.
– Other causes of hemochromatosis include:
1) Other genetic mutations that affect iron metabolism, such as mutations in the genes that code for hepcidin, hemojuvelin, transferrin receptor 2, or ferroportin. These are rare forms of hemochromatosis that usually appear earlier in life and may affect other ethnic groups besides those of European descent.
2) Repeated blood transfusions for conditions such as thalassemia or sickle cell disease. These can cause iron overload in the body over time.
3) Liver diseases such as cirrhosis or hepatitis C. These can impair the liver's ability to store and regulate iron levels in the body.
4) Excess iron intake from supplements, fortified foods, or dietary sources. This is rare and usually only occurs in people who have an underlying iron absorption disorder or take very high doses of iron supplements.
🔅 Signs and symptoms of Hemochromatosis
– The symptoms of hemochromatosis vary depending on the amount of iron accumulation and the organs affected. Some people may not have any symptoms until they reach middle age or older, while others may experience symptoms earlier in life. Some common symptoms include:
• Fatigue and weakness.
• Joint pain and arthritis.
• Abdominal pain and swelling.
• Loss of libido and impotence.
• Irregular periods or menopause.
• Diabetes and insulin resistance.
• Liver problems such as jaundice, cirrhosis, or liver cancer.
• Heart problems such as arrhythmias, cardiomyopathy, or heart failure.
• Skin problems such as bronze or gray skin coloration.
• Hormonal problems such as hypothyroidism or hypogonadism.
• Neurological problems such as memory loss, depression, or dementia.
🔅 Diagnosis of Hemochromatosis:
– The diagnosis of hemochromatosis is based on a combination of blood tests, genetic tests, and liver biopsy. The blood tests measure the levels of iron and ferritin (a protein that stores iron) in the blood, as well as the percentage of transferrin (a protein that transports iron) that is saturated with iron.
– These tests can indicate if there is too much iron in the body and how well the body is handling it. The genetic tests can identify if a person has inherited one or two copies of the HFE mutation or other mutations that cause hemochromatosis. The liver biopsy can confirm the diagnosis by showing how much iron is stored in the liver tissue and if there is any liver damage.
🔅 Treatment options for Hemochromatosis
– The treatment procedures aim to reduce the amount of iron in the body and prevent or treat any organ damage caused by iron overload.
– The main treatment is phlebotomy (bloodletting), which involves removing a certain amount of blood from a vein on a regular basis. This lowers the iron levels in the blood and reduces the iron stores in the organs. The frequency and duration of phlebotomy depend on the severity of the condition and the response to treatment. Some people may need to have phlebotomy once a week at first, while others may only need it once every few months or years. Phlebotomy can be continued for life or until the iron levels are normal.
– Another treatment option is chelation therapy, which involves taking a medication that binds to excess iron and helps remove it from the body through urine or stool. This may be used for people who cannot tolerate phlebotomy or have other medical conditions that prevent them from having phlebotomy. However, chelation therapy has more side effects than phlebotomy and may not be as effective in preventing organ damage. Therefore, it is usually reserved for cases where phlebotomy is not possible or sufficient.
– In addition to phlebotomy or chelation therapy, people with hemochromatosis may also need to:
• Monitor their iron levels and organ function regularly with blood tests and imaging tests.
• Treat any complications of hemochromatosis, such as diabetes, liver disease, heart disease, or hormonal problems, with appropriate medications and lifestyle changes.
• Avoid taking iron supplements or multivitamins that contain iron, unless prescribed by a doctor.
• Avoid eating raw or undercooked shellfish, as they may contain bacteria that can cause serious infections in people with iron overload.
• Limit their intake of alcohol, as it can increase iron absorption and worsen liver damage.
• Eat a balanced diet that is low in iron-rich foods, such as red meat, liver, and fortified cereals, and high in foods that inhibit iron absorption, such as dairy products, eggs, tea, and coffee.
🔅 Prevention of Hemochromatosis
– The prevention of hemochromatosis is not possible, as it is mostly caused by genetic factors that cannot be changed. However, early diagnosis and treatment can prevent or delay the onset of symptoms and complications. Therefore, people who have a family history of hemochromatosis or belong to a high-risk ethnic group should consider getting tested for the condition. People who have one copy of the HFE mutation or other mutations that cause hemochromatosis should also inform their relatives and encourage them to get tested. Genetic counseling may be helpful for people who are planning to have children and are concerned about passing on the condition.
– Hemochromatosis is a serious but treatable condition that can affect many organs and systems in the body. By knowing the causes, symptoms, diagnosis, treatment, and prevention of hemochromatosis, you can take steps to manage your condition and improve your quality of life.
