A condition characterized by unusually low levels of an enzyme called pyruvate kinase, which is present in red blood cells. Typically, pyruvate kinase facilitates the breakdown of glucose to produce energy under low-oxygen conditions. When there is a shortage of this enzyme, red blood cells become unable to generate sufficient energy for themselves. Additionally, they undergo chemical imbalances that lead to their premature destruction by the spleen, resulting in anemia and spleen enlargement. This disorder is often attributed to a defect in an autosomal recessive gene.
The disease’s intensity varies among individuals. In many cases, treatment is unnecessary. Blood transfusions might be necessary on occasion, especially during periods of physiological strain, such as acute illness or pregnancy, when the condition tends to worsen. In severe instances, the removal of the spleen, known as splenectomy, could be advised.