Mortality among US veterans with a physician-documented diagnosis of pyruvate kinase deficiency

References

• Valentine WN, Tanaka KR, Miwa S. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Trans Assoc Am Phys. 1961;74:100–110.
   PubMedGoogle Scholar
• Tanaka KR, Valentine WN, Miwa S. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood. 1962;19:267–295. doi:10.1182/blood.V19.3.267.267
   PubMed Web of Science ®Google Scholar
• Grace RF, Barcellini W. Management of pyruvate kinase deficiency in children and adults. Blood. 2020;136(11):1241–1249. doi:10.1182/blood.2019000945
   PubMed Web of Science ®Google Scholar
• Secrest MH, Storm M, Carrington C, et al. Prevalence of pyruvate kinase deficiency: A systematic literature review. Eur J Haematol. 2020;105(2):173–184. doi:10.1111/ejh.13424
   PubMed Web of Science ®Google Scholar
• Bianchi P, Fermo E. Molecular heterogeneity of pyruvate kinase deficiency. Haematologica. 2020;105(9):2218–2228. doi:10.3324/haematol.2019.241141
   PubMed Web of Science ®Google Scholar
• Bianchi P, Fermo E, Lezon-Geyda K, et al. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020;95(5):472–482. doi:10.1002/ajh.25753
   PubMed Web of Science ®Google Scholar
• 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. doi:10.1182/blood-2017-10-810796
   PubMed Web of Science ®Google Scholar
• Grace RF, Mark Layton D, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721–734. doi:10.1111/bjh.15758
   PubMed Web of Science ®Google Scholar
• Boscoe AN, Yan Y, Hedgeman E, et al. Comorbidities and complications in adults with pyruvate kinase deficiency. Eur J Haematol. 2021;106(4):484–492. doi:10.1111/ejh.13572
   PubMed Web of Science ®Google Scholar
• Pyrukynd Prescribing Information: Agios Pharmaceuticals Inc. [accessed 2023 May]. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/216196s000lbl.pdf
   Google Scholar
• Pyrukynd Summary of product characteristics, Annex I: Agios Pharmaceuticals, Inc. [accessed 2023 May]. Available from: https://www.agios.com/wp-content/uploads/2022/11/SmPC-EN.pdf
   Google Scholar
• Pyrukynd Summary of Product Characteristics: Agios Pharmaceuticals, Inc. [accessed 2023 May]. https://mhraproducts4853.blob.core.windows.net/docs/c8f6883db4e2602a7394efcd7a72929eea0ca921
   Google Scholar
• Oruch R. Management of pyruvate kinase deficiency: an updated review. Int J. 2021;4(1):592.
   Google Scholar
• Pérez-Albert P, Guillen M, Prudencio M, et al. Haematopoietic stem cell transplantation in pyruvate kinase deficiency: when is it indicated? An Pediatr. 2017;88(2):106–107.
   Google Scholar
• Zanella A, Berzuini A, Colombo MB, et al. Iron status in red cell pyruvate kinase deficiency: study of Italian cases. Br J Haematol. 1993;83(3):485–490. doi:10.1111/j.1365-2141.1993.tb04675.x
   PubMed Web of Science ®Google Scholar
• Zahid MF, Bains APS. Rapidly fatal Klebsiella pneumoniae sepsis in a patient with pyruvate kinase deficiency and asplenia. Blood. 2017;130(26):2906. doi:10.1182/blood-2017-08-803841
   PubMed Web of Science ®Google Scholar
• Raphael MF, Van Wijk R, Schweizer JJ, et al. Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn. Am J Hematol. 2007;82(11):1025–1028. doi:10.1002/ajh.20942
   PubMed Web of Science ®Google Scholar
• Pissard S, Max-Audit I, Skopinski L, et al. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. Br J Haematol. 2006;133(6):683–689. doi:10.1111/j.1365-2141.2006.06076.x
   PubMed Web of Science ®Google Scholar
• Rider NL, Strauss KA, Brown K, et al. Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. Am J Hematol. 2011;86(10):827–834. doi:10.1002/ajh.22118
   PubMed Web of Science ®Google Scholar
• Nagai H, Takazakura E, Oda H, et al. An autopsy case of pyruvate kinase deficiency anemia associated with severe hemochromatosis. Intern Med. 1994;33(1):56–59. doi:10.2169/internalmedicine.33.56
   PubMed Web of Science ®Google Scholar
• Zanella A, Fermo E, Bianchi P, et al. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007;21(4):217–231. doi:10.1016/j.blre.2007.01.001
   PubMed Web of Science ®Google Scholar
• Alli N, Coetzee M, Louw V, et al. Sickle cell disease in a carrier with pyruvate kinase deficiency. Hematology. 2008;13(6):369–372. doi:10.1179/102453308X343536
   PubMed Web of Science ®Google Scholar
• United States Department of Veterans Affairs. Veterans Health Administration. [accessed 2022 January 20]. Available from: https://www.va.gov/health/aboutVHA.asp
   Google Scholar
• Quan H, Sundararajan V, Halfon P, et al. Coding algorithms for defining comorbidities in ICD-9-CM and ICD-10 administrative data. Med Care. 2005;43(11):1130–1139. doi:10.1097/01.mlr.0000182534.19832.83
   PubMed Web of Science ®Google Scholar
• Pappas AA, Owens RB, Flick JT. Reticulocyte counting by flow cytometry. A comparison with manual methods. Ann Clin Lab Sci. 1992;22(2):125–132.
   PubMed Web of Science ®Google Scholar
• Farhana A, Lappin SL. Biochemistry, lactate dehydrogenase. Treasure Island (FL): StatPearls [Internet]. StatPearls Publishing; 2021.
   Google Scholar
• Samannodi M, Zhao A, Nemshah Y, et al. Plesiomonas shigelloides septic shock leading to death of postsplenectomy patient with pyruvate kinase deficiency and hemochromatosis. Case Rep Infect Dis. 2016: 1538501. doi:10.1155/2016/1538501
   PubMedGoogle Scholar
• Zanella A, Bianchi P, Baronciani L, et al. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. Blood. 1997;89(10):3847–3852.
   PubMed Web of Science ®Google Scholar
• Boivin P, Galand C, Hakim J, et al. Acquired erythroenzymopathies in blood disorders: study of 200 cases. Br J Haematol. 1975;31(4):531–543. doi:10.1111/j.1365-2141.1975.tb00888.x
   PubMed Web of Science ®Google Scholar
• Valentine WN, Konrad PN, Paglia DE. Dyserythropoiesis, refractory anemia, and "preleukemia:" metabolic features of the erythrocytes. Blood. 1973;41(6):857–875. doi:10.1182/blood.V41.6.857.857
   PubMed Web of Science ®Google Scholar
• Kornberg A, Goldfarb A. Preleukemia manifested by hemolytic anemia with pyruvate-kinase deficiency. Arch Intern Med. 1986;146(4):785–786. doi:10.1001/archinte.1986.00360160237030
   PubMedGoogle Scholar