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Pyruvate Kinase Deficiency is a rare inherited blood disorder that affects red blood cells and causes chronic haemolytic anaemia. It occurs because of mutations in the PKLR gene, which provides instructions for producing pyruvate kinase, an enzyme essential for energy production inside red blood cells. When this enzyme is deficient, red blood cells cannot maintain normal energy levels and become fragile, leading to their premature destruction.

The severity of Pyruvate Kinase Deficiency varies widely. Common symptoms include tiredness, weakness, pale skin, shortness of breath, jaundice, and an enlarged spleen. Some individuals develop gallstones because ongoing red blood cell breakdown increases bilirubin levels. In children, severe disease may affect growth and development.

Diagnosis usually involves blood tests showing haemolytic anaemia, measurement of red blood cell pyruvate kinase activity, and genetic testing to identify PKLR mutations. Treatment depends on disease severity and may include folic acid supplementation, blood transfusions, management of iron overload, and removal of the spleen in selected cases. Pyruvate kinase activators may also be considered for eligible patients. Regular monitoring helps detect complications and maintain quality of life. Early diagnosis and personalised care can significantly improve long-term management.