Pyruvate Kinase Deficiency

Definition

Pyruvate kinase deficiency is the most common enzymopathic hemolytic anemia, characterized by hemolytic anemia, splenomegaly, and hyperbilirubinemia.

Symptoms

  • Hemolytic anemia
  • Splenomegaly
  • Hyperbilirubinemia
  • Fatigue

Reasons

PKLR gene mutation.

Diagnosis

Enzyme activity, genetic testing.

Treatment

Folic acid, splenectomy.

Which Polyclinic Should You Apply To?

Hematology Polyclinic

What to Do in an Emergency?

In case of severe anemia, emergency services should be consulted.

This page is for general information purposes only.