Confirming Pyruvate Kinase (PK) deficiency diagnosis
About PK Deficiency

Patients with PK Deficiency are at Risk for Symptoms Associated with Chronic Hemolyic Anemia — In Addition to Longer Term, Potentially Serious Complications

Chart highlighting Symptoms Associated with Chronic Hemolyic Anemia

In PK deficiency, iron overload is common in patients who are not regularly transfused and even in those who have never been transfused.

Complications from iron overload can be severe

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Burden of Disease and Management

Complications of PK deficiency and its treatment can adversely impact patients’ quality of life.6-8

Current disease management strategies, including watchful waiting, splenectomy and transfusions, are insufficient for many patients.1,9

Watch the PK deficiency disease mechanism video
Insufficient pyruvate kinase activity leads to decreased ATP generation, shortened red blood cell lifespan, and chronic hemolysis.1,6
Watch the PK deficiency disease mechanism video
Insufficient pyruvate kinase activity leads to decreased ATP generation, shortened red blood cell lifespan, and chronic hemolysis.1,6
View a brief interview with Dr. Kevin Kuo
Listen to Dr. Kevin Kuo

Join us in a conversation with Dr. Kevin Kuo about the current state of PK deficiency disease management.

Want to know more?
Download an Info Sheet on PK deficiency.
Do you suspect PK deficiency in a patient?
Learn more about diagnosis.
Want to know more?
Download an Info Sheet on PK deficiency.
Do you suspect PK deficiency in a patient?
Learn more about diagnosis.

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Reference Material for Pyruvate Kinase (PK) deficiency
References
  1. Grace RF, et al. Am J Hematol. 2015;90(9):825-30.
  2. Grace RF, Mark Layton D, Barcellini W. Br J Haematol. doi:10.1111/bjh.15758. [published online January 25, 2019]
  3. Grace RF, et al. Blood 2018 131:2183-2192.
  4. Grace RF, et al. Eur J Hameatol 2018; 101:758-765.
  5. van Beers EJ, vanStraaten S, Morton DH, et al. Haematologica. 2019;104(2):e51-e53.
  6. Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype- phenotype association. Blood Reviews 2007: 21; 217–231.
  7. Pyruvate Kinase Deficiency. Genetics Home Reference, US National Library of Medicine. https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency. Accessed April 24, 2017.

  8. Le K, et al. Blood 2015: 126;3336.

  9. Hirono A, Kanno H, Miwa S, Beutler E. Chapter 182: Pyruvate Kinase Deficiency and Other Enzymopathies of the Erythrocyte. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2014. http://
ommbid.mhmedical.com/content.aspx?sectionid=62652268&bookid=971&Resultclick=2&q=PK+deficiency. Accessed 7 Jun 2019.