pyropoikilocytosis

Pyropoikilocytosis is a rare, inherited disorder characterized by the presence of unusually shaped red blood cells, known as poikilocytes, and an increased sensitivity of these cells to heat. The name itself combines "pyro" (fire or heat) and "poikilo" (varied shape) with "cytosis" (cell condition). This condition is a subtype of hereditary elliptocytosis or hereditary pyropoikilocytosis, and it is caused by mutations in genes that encode proteins essential for the structural integrity of the red blood cell membrane, most commonly alpha spectrin.

The abnormal red blood cells in pyropoikilocytosis are highly fragile and fragment easily, leading to hemolysis, a condition where red blood cells are destroyed faster than they can be produced. This chronic hemolysis results in anemia, which can range in severity from mild to life-threatening. Symptoms of anemia include fatigue, paleness, shortness of breath, and jaundice. Diagnosis typically involves a peripheral blood smear examination, which reveals the characteristic poikilocytosis, and genetic testing to identify the specific mutations.

There is no cure for pyropoikilocytosis, and treatment focuses on managing the symptoms of anemia. This may include blood transfusions to correct severe anemia and, in some cases, splenectomy to reduce the rate of red blood cell destruction. However, splenectomy can increase the risk of infection and is often considered a last resort. The severity of the disease can vary significantly among individuals, even within the same family.