About Congenital atransferrinemia

What is Congenital atransferrinemia?

Congenital atransferrinemia is a rare inherited disorder caused by a deficiency of the enzyme transferrin. Transferrin is a protein that helps transport iron in the blood. People with congenital atransferrinemia have low levels of transferrin, which can lead to iron overload and other health problems. Symptoms of congenital atransferrinemia can include anemia, fatigue, poor growth, and liver and heart problems. Treatment typically involves iron chelation therapy to reduce iron levels in the body.

What are the symptoms of Congenital atransferrinemia?

The symptoms of Congenital atransferrinemia can vary from person to person, but may include:

-Poor growth
-Developmental delays
-Lack of energy
-Poor feeding
-Hepatomegaly (enlarged liver)
-Splenomegaly (enlarged spleen)
-Iron overload
-Neurological problems
-Hearing loss
-Vision problems
-Heart problems
-Kidney problems
-Skin problems

What are the causes of Congenital atransferrinemia?

Congenital atransferrinemia is a rare inherited disorder caused by mutations in the TF gene. This gene provides instructions for making a protein called transferrin, which is involved in transporting iron in the blood. Mutations in the TF gene lead to a decrease in the amount of transferrin produced, resulting in an inability to transport iron properly.

What are the treatments for Congenital atransferrinemia?

1. Dietary management: Dietary management is the primary treatment for congenital atransferrinemia. This includes avoiding foods high in iron, such as red meat, organ meats, and shellfish, and eating foods that are low in iron, such as fruits, vegetables, and dairy products.

2. Iron chelation therapy: Iron chelation therapy is a treatment that involves using medications to remove excess iron from the body. This can help reduce the risk of iron overload and its associated complications.

3. Blood transfusions: Blood transfusions may be necessary in some cases to replace lost red blood cells and to reduce the risk of anemia.

4. Gene therapy: Gene therapy is a promising new treatment for congenital atransferrinemia. This involves introducing a healthy gene into the body to replace the defective gene that causes

What are the risk factors for Congenital atransferrinemia?

1. Family history of the disorder
2. Genetic mutations in the SLC25A38 gene
3. Maternal diabetes
4. Maternal obesity
5. Maternal alcohol consumption
6. Maternal smoking
7. Maternal age over 35
8. Advanced paternal age
9. Exposure to certain medications during pregnancy

Is there a cure/medications for Congenital atransferrinemia?

At this time, there is no cure for congenital atransferrinemia. However, there are medications available to help manage the symptoms. These medications include iron supplements, vitamin B12, and folic acid. Additionally, dietary changes may be recommended to help reduce the amount of iron in the body.