Hereditary pyropoikilocytosis
Hereditary Pyropoikilocytosis
Hereditary Pyropoikilocytosis (pronounced: heh-rih-dit-airy py-ro-poi-ki-lo-sy-toh-sis) is a rare, inherited blood disorder that affects the red blood cells.
Etymology
The term "Hereditary Pyropoikilocytosis" is derived from three Greek words: "hereditary" meaning inherited, "pyro" meaning fire, referring to the heat sensitivity of the red blood cells, "poikilo" meaning varied, referring to the varied shapes of the red blood cells, and "cytosis" meaning a condition of cells.
Definition
Hereditary Pyropoikilocytosis is characterized by anemia, jaundice, and splenomegaly. The red blood cells in individuals with this condition are abnormally small, vary in shape, and break down prematurely, leading to a shortage of red blood cells (anemia).
Symptoms
Symptoms of Hereditary Pyropoikilocytosis may include fatigue, weakness, pale skin, jaundice, and an enlarged spleen. The severity of the symptoms can vary among affected individuals.
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 red blood cell membrane. Mutations in these genes disrupt the normal structure and stability of red blood cells, making them fragile and easily destroyed.
Diagnosis
Diagnosis of Hereditary Pyropoikilocytosis is based on a complete blood count (CBC), peripheral blood smear, and genetic testing to identify mutations in the SPTA1 or SPTB gene.
Treatment
Treatment for Hereditary Pyropoikilocytosis is focused on managing the symptoms and may include blood transfusions, folic acid supplements, and in severe cases, a splenectomy.
Related Terms
External links
- Medical encyclopedia article on Hereditary pyropoikilocytosis
- Wikipedia's article - Hereditary pyropoikilocytosis
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