[MIM 266 200]

Prevalence is estimated at 1/300,000, more common in Amish communities of Pennsylvania and Ohio. The most common cause ofcongenital  non-spherocytar hemolytic anemia. Autosomal recessive transmission of a mutation of the PKLR gene (1q22). The pyruvate kinase is a key enzyme of glycolysis as it transforms phosphoenolpyruvate to pyruvate and so generates ATP.

Its absence or its dysfunction leads at the level of red blood cells to:

-        a deficiency in ATP: increased rigidity of the membrane with destruction red blood cells in the spleen: anemia, jaundice, reticulocytosis, vesicular lithiasis, splenomegaly

-        an increased level of 2-3 diphosphoglycerate: decreased affinity of hemoglobin for oxygen.

The clinical presentation is very variable:

-        severe neonatal hemolytic anemia, sometimes with extramedullary sites of erythropoiesis

-        chronic hemolytic anemia requiring iterative transfusions

-        hemolytic anemia in case of infection

-        well compensated chronic hemolysis, without anemia 

Treatment according to the severity of symptoms: splenectomy

Anesthetic implications:

chronic hemolytic anemia; check blood count: risk of hemosiderosis in case of frequent transfusions; avoid hypothermia (extracorporeal)

References :

-        Basantwani S, Govardhane B, Shinde S, Tendolkar B.
Mitral valve replacement with cardioplumonary bypass in a patient with pyruvate kinase deficiency.
J Cardiothorac Vasc Anesth 2017; 31: 262-5

-        Voit RA, Grace RF.
Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin.
Blood 2020; 136: 770.

Updated: August 2020