About FTH1-related iron overload

What is FTH1-related iron overload?

FTH1-related iron overload is a genetic disorder caused by mutations in the FTH1 gene. It is characterized by an accumulation of iron in the body, which can lead to organ damage and other health problems. Symptoms of FTH1-related iron overload include fatigue, joint pain, abdominal pain, and skin discoloration. Treatment typically involves chelation therapy to remove excess iron from the body.

What are the symptoms of FTH1-related iron overload?

The symptoms of FTH1-related iron overload can vary depending on the severity of the condition. Common symptoms include fatigue, abdominal pain, joint pain, weight loss, and skin discoloration. Other symptoms may include an enlarged liver, diabetes, heart problems, and an increased risk of certain types of cancer.

What are the causes of FTH1-related iron overload?

FTH1-related iron overload is caused by mutations in the FTH1 gene, which is responsible for the production of a protein called ferritin. This protein helps to store iron in the body. When the FTH1 gene is mutated, it causes the body to produce too much ferritin, leading to an accumulation of iron in the body. This can lead to a variety of health problems, including liver damage, heart problems, and diabetes.

What are the treatments for FTH1-related iron overload?

1. Dietary modifications: Reducing the amount of iron-rich foods in the diet, such as red meat, organ meats, and fortified cereals, can help reduce iron overload.

2. Iron chelation therapy: This involves taking medications that bind to iron in the body and help remove it from the body through the urine or stool.

3. Blood transfusions: This involves replacing the patient’s blood with donated blood that does not contain excess iron.

4. Liver transplant: In some cases, a liver transplant may be necessary to reduce the amount of iron in the body.

What are the risk factors for FTH1-related iron overload?

1. Family history of FTH1-related iron overload
2. Having two copies of the FTH1 gene mutation
3. Having a diet high in iron
4. Having a condition that causes increased iron absorption, such as hemochromatosis
5. Having a condition that causes increased red blood cell production, such as thalassemia
6. Having a condition that causes increased iron release from the liver, such as cirrhosis
7. Taking iron supplements or medications that contain iron
8. Having a blood transfusion

Is there a cure/medications for FTH1-related iron overload?

Yes, there are treatments available for FTH1-related iron overload. These include medications such as deferoxamine, deferiprone, and deferasirox, as well as lifestyle changes such as avoiding iron-rich foods and avoiding alcohol. Additionally, regular blood tests and iron chelation therapy may be recommended to help manage iron levels.