LIC=liver iron concentration.
Data derived for the PK deficiency population drawn from the Pyruvate Kinase Deficiency NHS. The average age in the NHS was 19 years (range 0.1-69.9; n=254).1
*Patients were defined as not regularly transfused if they had received <6 transfusions in the 12 months prior to enrollment.2
†Chelation therapy may be indicated with ferritin >1000 ng/mL, liver iron concentration (LIC) >3 mg/g dry weight liver, and/or cardiac iron ≤20 ms.2
‡Ferritin blood values may underestimate LIC.2
The Pyruvate Kinase Deficiency Natural History Study was funded by Agios Pharmaceuticals.
Patients in the National History Study were defined as regularly transfused (≥6 transfusions) or not regularly transfused (<6 transfusions) in the 12 months prior to enrollment
Heart and liver MRI
Heart and liver MRI
My doctor monitors me for iron overload every 3 months because I’ve had a lot of problems with both my heart and liver.
Tamara S., Minnesota
References: 1. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192. 2. van Beers EJ, van Straaten S, Morton DH, et al. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019;104(2):e51-e53. 3. Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol. 2005;130(1):11-25. 4. Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 5. Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management [published online ahead of print March 12, 2020]. Haematologica. 2019;2019:240846. doi:10.3324/haematol.2019.240846. 6. Piperno A, Pelucchi S, Mariani R. Inherited iron overload disorders. Transl Gastroenterol Hepatol. 2020;5:25. doi:10.21037/tgh.2019.11.15. 7. Ramakrishnan L, Pedersen SL, Toe QK, Quinlan GJ, Wort SJ. Pulmonary arterial hypertension: iron matters. Front Physiol. 2018;9:641. doi:10.3389/ fphys.2018.00641.