Definition:
Pyropokilocytosis is a severe congenital disease that affects the red blood cells. It is a kind of hemolytic anemia and is under the disease group homozygous hereditary elliptocytosis. This disease causes a defect in spectrin which leads to an insufficient count of red blood cells.
Diagnosis:
Pyropoikilocytosis is diagnosed when a patient is born, or during a physical examination. Parents can also undergo genetic counseling to detect the presence of the disease.
Treatment:
The disease can be treated via transfusion or packed red blood cells to sustain the lack of RBC in the body. Surgical operation such as splenectomy has shown to improve the condition of the patient but this is done only with severe cases.
Symptoms and Signs:
Patients with the disease have anemia-like symptoms such as paleness of skin, weakness and low red blood cell count.
Causes:
Pyropoikilocytosis is an autosomal recessive disease, a result of a genetic disorder with either one of the parents of the patient. The disease is usually discovered during infancy.
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