Hereditary pyropoikilocytosis (HPP) is a rare genetic disorder that affects red blood cells. It is caused by a mutation in the gene that controls the production of the protein spectrin. This protein is important for maintaining the shape and flexibility of red blood cells.
In individuals with HPP, their red blood cells are abnormally shaped and rigid. This can lead to a variety of symptoms, including anemia, jaundice, and an increased risk of blood clots. HPP is usually diagnosed in childhood and tends to be more severe than other spectrin-related disorders.
Treatment for HPP may involve blood transfusions, medications to manage symptoms such as iron overload or pain, and in some cases, a bone marrow transplant. It is important for individuals with HPP to receive ongoing medical care to manage their symptoms and prevent complications.
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