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Hereditary Pyropoikilocytosis is a rare, inherited condition in which abnormal red blood cells become sensitive to heat. As a result of this increased sensitivity, they get destroyed resulting in haemolytic anaemia. Symptoms are:
• Severe haemolytic anemia
• Growth retardation
• Protruding forehead
• Extreme poikilocytosis
• Oval shaped red blood cells
HOW IS HEREDITARY PYROPOIKILOCYTOSIS DIAGNOSED?
Haematologists may order for a complete blood count and a peripheral blood smear for diagnosis of Hereditary Pyropoikilocytosis. The doctor may conduct a complete physical examination and also evaluate your symptoms. Thermal sensitivity and osmotic fragility tests may confirm diagnosis.
HOW IS HEREDITARY PYROPOIKILOCYTOSIS TREATED?
Hereditary Pyropoikilocytosis is an inherited condition and therefore treating the underlying condition is ruled out. The best option available is to go in for blood transfusion. Any other treatment to manage the condition will be decided by the doctor based on the individual case history and the exact nature of the disorder.
DID YOU KNOW?
In the majority of cases this disorder is not life threatening and has no effect on life expectancy. It can be present at any age and the clinical picture is heterogeneous. Most have common disorder, which is mainly asymptomatic or which can present with mild hemolytic anaemia as well as jaundice, splenomegaly and gallstones.