About PK Deficiency
When You Know More, You Can Do More

PK deficiency is a rare, inherited disease that causes lifelong hemolytic anemia and other complications due to the early destruction of red blood cells. While the disease affects everyone differently, people with PK deficiency often experience severe fatigue that can have an impact on their daily living and quality of life. People with PK deficiency may experience other medical problems ranging from mild to severe because of the disease itself or the supportive care used to manage this condition.

Here's what happens in the body of someone with PK deficiency:
What happens in patients with PK deficiency
What happens in patients with PK deficiency
  • Red blood cells require an enzyme called pyruvate kinase (PK); when the PK enzyme is deficient, red blood cells (RBC) do not form properly and die prematurely
  • The premature death of RBC leads to a condition called hemolytic anemia, where the body has decreased numbers of red blood cells
  • Without sufficient red blood cells to carry oxygen throughout the body, fatigue, lethargy and weakness can occur
  • Regular blood transfusions are used in some patients to replace red blood cells and treat the hemolytic anemia
  • Regular transfusions sometimes cause other medical issues, such as iron overload, that require treatment (such as chelation therapy)
  • Some patients may require removal of their spleen to help treat their PK deficiency
Signs and symptoms of PK deficiency:
Signs and symptoms of patients with PK deficiency
Signs and symptoms of PK deficiency Signs and symptoms of patients with PK deficiency
Personal Perspective
Physician Perspective

Kelsi talks about her experience living with PK deficiency.

Dr. Richard van Wijk talks about PK deficiency.

Personal Perspective

Kelsi talks about her experience living with PK deficiency.

Physician Perspective

Dr. Richard van Wijk talks about PK deficiency.

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