Explore these case profiles to find out more about the consequences of misdiagnosis as well as symptoms and complications over time.
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‡Age-related data available for 243 of the 254 patients.
The Pyruvate Kinase Deficiency NHS was funded by Agios Pharmaceuticals.
FACIT-F Score: 48 (score range, 0-52)
Ferritin 670 ng/mL (consensus cutoff, 500 ng/mL)
LIC: 8.9 mg/g dry weight (reference range, 0.17-1.8 mg/g dry weight)
Patient initiated on chelation therapy after being advised of the risks of iron overload
References: 1. Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-161 [supplementary online material]. 2. Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management. Haematologica. 2020;105(9):2229-2239. 3. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192. 4. 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. 5. Marshall SR, Saunders PW, Hamilton PJ, Taylor PR. The dangers of iron overload in pyruvate kinase deficiency. Br J Haematol. 2003;120(6):1090-1091. 6. Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 7. 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.