Because of the risk of serious long-term complications, a definitive diagnosis is essential for monitoring and management decisions.3
Patients with PK deficiency are at risk for a range of complications, regardless of the degree of their anemia.4,8
It’s both an emotional and physical breakdown. When I’m tired, it means I’m dizzy and I need to hold on to steady surfaces; my brain is foggy, and I can’t focus. I can’t remember words, I have a headache, and my body is sore.
Tamara S., Minnesota
Currently 51 years old. Diagnosed with pyruvate kinase deficiency at the age of 6.
A Natural History Study of 254 patients demonstrated that patients with PK deficiency are at high risk of iron overload, regardless of their transfusion history4,8
38%
of patients not receiving regular transfusions
experienced iron overload*†
*As defined by ferritin >1000 ng/mL or chelation.
†The average age in the Pyruvate Kinase Deficiency Natural History Study (NHS) was 19 years (range 0.1-69.9; n=254).
The Pyruvate Kinase Deficiency NHS was funded by Agios Pharmaceuticals.
A Natural History Study of 254 patients demonstrated that patients with PK deficiency are at high risk of iron overload, regardless of their transfusion history4,8
38% of patients not receiving regular transfusions experienced iron overload*†
*As defined by ferritin >1000 ng/mL or chelation.
†The average age in the Pyruvate Kinase Deficiency Natural History Study (NHS) was 19 years (range 0.1-69.9; n=254).
The Pyruvate Kinase Deficiency NHS was funded by Agios Pharmaceuticals.
*As defined by ferritin >1000 ng/mL or chelation.
†The average age in the Pyruvate Kinase Deficiency Natural History Study (NHS) was 19 years (range 0.1-69.9; n=254).
The Pyruvate Kinase Deficiency Natural History Study was funded by Agios Pharmaceuticals.
US prevalence | Condition |
---|---|
>1000 in 1,000,000 |
G6PD deficiency |
Hereditary spherocytosis | |
Sickle cell anemia | |
1 to 100 in 1,000,000 |
Beta thalassemia |
Pyruvate kinase deficiency | |
Paroxysmal nocturnal hemoglobinuria (PNH) | |
Extremely rare | Triosephosphate isomerase deficiency |
Hexokinase deficiency | |
Aldolase deficiency |
‡Age-related data available for 243 of the 254 patients.
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