Hereditary pyropoikilocytosis

Hereditary Pyropoikilocytosis is a rare, inherited blood disorder characterized by anemia, abnormally shaped red blood cells, and an increased susceptibility to infection. This condition is a severe form of Hereditary Elliptocytosis and is caused by mutations in the SPTA1 or SPTB gene.

Symptoms

The symptoms of Hereditary Pyropoikilocytosis typically appear in infancy and can vary in severity. They may include:

• Anemia - A condition in which the body does not have enough healthy red blood cells.
• Jaundice - A yellowing of the skin and eyes.
• Splenomegaly - An enlargement of the spleen.
• Increased susceptibility to Infection - Due to the reduced number of healthy red blood cells.

Causes

Hereditary Pyropoikilocytosis is caused by mutations in the SPTA1 or SPTB gene. These genes provide instructions for making proteins that are part of the cytoskeleton of red blood cells. Mutations in these genes disrupt the structure of these cells, leading to the characteristic features of this disorder.

Diagnosis

Diagnosis of Hereditary Pyropoikilocytosis is based on a complete medical history, a physical examination, and specialized blood tests. These tests can reveal the characteristic abnormally shaped red blood cells of this disorder.

Treatment

Treatment for Hereditary Pyropoikilocytosis is aimed at managing the symptoms and preventing complications. This may include:

• Blood transfusion - To increase the number of healthy red blood cells in the body.
• Splenectomy - Surgical removal of the spleen, which can improve anemia in some cases.
• Antibiotics - To prevent or treat infections.

See Also

• Hereditary Elliptocytosis
• SPTA1
• SPTB

Hereditary pyropoikilocytosis Resources
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