Atransferrinemia, also known as congenital atransferrinemia, is a blood disorder where there isn’t enough hemoglobin in red blood cells, leading to a type of anemia called microcytic anemia.
Common symptoms include tiredness, slow growth, frequent infections, an enlarged liver (hepatomegaly), and heart problems. These symptoms usually start in infancy or childhood, but not everyone will have the same symptoms. There is no cure for atransferrinemia, but it can be treated. A common treatment involves getting plasma or a medication called apotransferrin through an IV every month. Some people might also need blood removed (phlebotomy) or treatment to lower iron levels if they are too high.
This condition is caused by pathogenic (disease-causing) variants in the TF gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
National Organization for Rare Disorders
Written August 2024
