Pyropokilocytosis

Below you will find more information about Pyropokilocytosis from Medigest. If you believe that you are suffering from any of the symptoms of Pyropokilocytosis it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Pyropokilocytosis and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Pyropokilocytosis comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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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