Research & Literature

Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis.

Zaninoni A, Vercellati C, Imperiali FG, et al.

Transfusion 2015; (55(12)):2930-8 doi:10.1111/trf.13257.

Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study.

Pincez T, Guitton C, Gauthier F, et al.

Blood 2016; (127(12)):1616-8 doi:10.1182/blood-2015-11-679357.

Diagnosis of Pyruvate Kinase Deficiency.

Gallagher PG, Glader B

Pediatric blood & cancer 2016; (63(5)):771-2 doi:10.1002/pbc.25922.

Medical complications following splenectomy.

Buzelé R, Barbier L, Sauvanet A, Fantin B

Journal of visceral surgery 2016; (153(4)):277-86.

[Haematopoietic stem cell transplantation in pyruvate kinase deficiency: When is it indicated?]

Pérez-Albert P, Guillen M, Prudencio M, et al.

Anales de pediatria 2018; (88(2)):106-107 doi:10.1016/j.anpedi.2017.02.016.

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

Kung C, Hixon J, Kosinski PA, et al.

Blood 2017; (130(11)):1347-1356 doi:10.1182/blood-2016-11-753525.

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.

van Straaten S, Bierings M, Bianchi P, et al.

Haematologica 2018; (103(2)):e82-e86 doi:10.3324/haematol.2017.177857.

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

Grace RF, Bianchi P, van Beers EJ, et al.

Blood 2018; (131(20)):2183-2192 doi:10.1182/blood-2017-10-810796.

Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency.

Chartier ME, Hart L, Paganelli M, et al.

Pediatrics 2018; (141(Suppl 5)):S385-S389 doi:10.1542/peds.2016-3896.

Red Blood Cell Enzyme Disorders.

Grace RF, Glader B

Pediatric clinics of North America 2018; (65(3)):579-595 doi:10.1016/j.pcl.2018.02.005.

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study.

van Beers EJ, van Straaten S, Morton DH, et al.

Haematologica 2019; (104(2)):e51-e53 doi:10.3324/haematol.2018.196295.

Pyruvate kinase L/R is a regulator of lipid metabolism and mitochondrial function.

Liu Z, Zhang C, Lee S, et al.

Metabolic engineering 2019; (52()):263-272 doi:10.1016/j.ymben.2019.01.001.

Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.

Bagla S, Bhambhani K, Gadgeel M, et al.

Haematologica 2019; (104(9)):e428-e431 doi:10.3324/haematol.2018.214692.

Bacterial Cholangitis in Autosomal Dominant Polycystic Kidney and Liver Disease.

Martin WP, Vaughan LE, Yoshida K, et al.

Mayo Clinic proceedings. Innovations, quality & outcomes 2019; (3(2)):149-159 doi:10.1016/j.mayocpiqo.2019.03.004.

Paravertebral Mass and Diffuse Lymphadenopathy in a Patient with Pyruvate Kinase Deficiency: Malignancy or Alternative Etiology?

Shaikh H, Bakalov V, Shaikh S, Amjad A

Cureus 2019; (11(6)):e4849 doi:10.7759/cureus.4849.

Acute Graft-Versus-Host Disease: A Brief Review

Aladağ E, Kelkitli E, Göker H

Turkish journal of haematology : official journal of Turkish Society of Haematology 2020; (37(1)):1-4 doi:10.4274/tjh.galenos.2019.2019.0157.

Hepcidin and Anemia: A Tight Relationship.

Pagani A, Nai A, Silvestri L, Camaschella C

Frontiers in physiology 2019; (10()):1294 doi:10.3389/fphys.2019.01294.

AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.

Rab MAE, Van Oirschot BA, Kosinski PA, et al.

Haematologica 2021; (106(1)):238-249 doi:10.3324/haematol.2019.238865.

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Bianchi P, Fermo E, Lezon-Geyda K, et al.

American journal of hematology 2020; (95(5)):472-482 doi:10.1002/ajh.25753.

Prevalence of pyruvate kinase deficiency: A systematic literature review.

Secrest MH, Storm M, Carrington C, et al.

European journal of haematology 2020; (105(2)):173-184 doi:10.1111/ejh.13424.

Successful Liver Transplantation for Adolescent Patient With Pyruvate Kinase Deficiency-induced Cirrhosis.

Rinehardt HN, Villella AD, Milanes-Yearsley M, et al.

Journal of pediatric hematology/oncology 2021; (43(4)):e605-e607 doi:10.1097/MPH.0000000000001876.

Congenital Hemolytic Anemias: Is There a Role for the Immune System?

Zaninoni A, Fermo E, Vercellati C, et al.

Frontiers in immunology 2020; (11()):1309 doi:10.3389/fimmu.2020.01309.

The variable manifestations of disease in pyruvate kinase deficiency and their management.

Al-Samkari H, Van Beers EJ, Kuo KHM, et al.

Haematologica 2020; (105(9)):2229-2239 doi:10.3324/haematol.2019.240846.

Preventing infections in children and adults with asplenia.

Lee GM

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):328-335 doi:10.1182/hematology.2020000117.

Comorbidities and complications in adults with pyruvate kinase deficiency.

Boscoe AN, Yan Y, Hedgeman E, et al.

European journal of haematology 2021; (106(4)):484-492 doi:10.1111/ejh.13572.

Circulating extracellular vesicles and cytokines in congenital and acquired hemolytic anemias.

Barcellini W, Zaninoni A, Giannotta JA, et al.

American journal of hematology 2021; (96(4)):E129-E132 doi:10.1002/ajh.26108.

The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.

Grootendorst S, de Wilde J, van Dooijeweert B, et al.

International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22042204.

Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report.

Ma ZY, Yang X

World journal of clinical cases 2021; (9(12)):2916-2922 doi:10.12998/wjcc.v9.i12.2916.

Evaluation of the risk factors for venous thromboembolism post splenectomy - A ten year retrospective cohort study in St James's hospital.

Abduljalil M, Saunders J, Doherty D, et al.

Annals of medicine and surgery (2012) 2021; (66()):102381 doi:10.1016/j.amsu.2021.102381.

Pyruvate kinase deficiency in children.

Chonat S, Eber SW, Holzhauer S, et al.

Pediatric blood & cancer 2021; (68(9)):e29148 doi:10.1002/pbc.29148.

Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency.

Al-Samkari H, van Beers EJ, Morton DH, et al.

Blood advances 2022; (6(6)):1844-1853 doi:10.1182/bloodadvances.2021004675.

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

Fawaz N, Beshlawi I, Alqasim A, et al.

Clinical case reports 2022; (10(2)):e05315 doi:10.1002/ccr3.5315.

Splenectomy and emerging novel treatments in rare inherited hemolytic anemias.

Yacobovich J, Tamary H

HemaSphere 2019; (3(Suppl)) doi:10.1097/HS9.0000000000000190.

Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open-label study.

van Dijk MJ, Rab MAE, van Oirschot BA, et al.

American journal of hematology 2022; (97(7)):E226-E229 doi:10.1002/ajh.26554.

Mitapivat versus Placebo for Pyruvate Kinase Deficiency.

Al-Samkari H, Galactéros F, Glenthøj A, et al.

The New England journal of medicine 2022; (386(15)):1432-1442 doi:10.1056/NEJMoa2116634.

Iron overload disorders.

Hsu CC, Senussi NH, Fertrin KY, Kowdley KV

Hepatology communications 2022; (6(8)):1842-1854 doi:10.1002/hep4.2012.

Mitapivat in adult patients with pyruvate kinase deficiency receiving regular transfusions (ACTIVATE-T): a multicentre, open-label, single-arm, phase 3 trial.

Glenthøj A, van Beers EJ, Al-Samkari H, et al.

The Lancet. Haematology 2022; (9(10)):e724-e732 doi:10.1016/S2352-3026(22)00214-9.

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.

Fattizzo B, Cavallaro F, Marcello APML, et al.

Journal of blood medicine 2022; (13()):461-471 doi:10.2147/JBM.S353907.

Pyruvate kinase activator: A major breakthrough in the world of Hematology.

Iqbal A, Habiba U, Waseem R, Islam Z

Annals of medicine and surgery (2012) 2022; (82()):104631 doi:10.1016/j.amsu.2022.104631.

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.

Yozgat AK, Erdem AY, Kaçar D, et al.

The Turkish journal of pediatrics 2022; (64(5)):951-955.

Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency.

Al-Samkari H, Grace RF, Glenthøj A, et al.

American journal of hematology 2023; (98(3)):E57-E60 doi:10.1002/ajh.26830.

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Dongerdiye R, Bokde M, More TA, et al.

Annals of hematology 2023; (102(5)):1029-1036 doi:10.1007/s00277-023-05152-2.

Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency.

Dulmovits BM, Wild KT, Flibotte J, et al.

Neonatology 2023; (120(5)):661-665 doi:10.1159/000531242.

Mitapivat: A Quinolone Sulfonamide to Manage Hemolytic Anemia in Adults With Pyruvate Kinase Deficiency.

Wills J, Horenstein M, Kim A, et al.

American journal of therapeutics 2023; (30(5)):e433-e438 doi:10.1097/MJT.0000000000001663.

Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.

Zhuang-Yan A, Shirley M

Drugs 2023; (83(17)):1613-1620 doi:10.1007/s40265-023-01961-x.

Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.

Boonyuen U, Jacob BAC, Wongwigkan J, et al.

Malaria journal 2024; (23(1)):38 doi:10.1186/s12936-024-04864-8.

Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency.

van Beers EJ, Al-Samkari H, Grace RF, et al.

Blood advances 2024; (8(10)):2433-2441 doi:10.1182/bloodadvances.2023011743.

Risk factors and survival outcomes in children with early cardiotoxicity after allogeneic hematopoietic stem cell transplantation.

Tong K, Meng Y, Zhang L, et al.

Annals of hematology 2024; (103(7)):2485-2497 doi:10.1007/s00277-024-05787-9.

Clinical and Demographic Characteristics of Pyruvate Kinase Deficiency Patients: A Comprehensive Case Series Analysis.

Nasiri A, Haroon A, Alzahrani H

Cureus 2024; (16(5)):e60035 doi:10.7759/cureus.60035.

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök V, Leblebisatan G, Gürlek Gökçebay D, et al.

British journal of haematology 2024; (205(1)):236-242 doi:10.1111/bjh.19575.

Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry.

Glenthøj A, Grace RF, Lander C, et al.

British journal of haematology 2024; (205(2)):613-623 doi:10.1111/bjh.19601.

[Expert consensus on the diagnosis and treatment of pyruvate kinase deficiency].

Zhonghua yi xue za zhi 2024; (104(45)):4118-4124 doi:10.3760/cma.j.cn112137-20240430-01012.

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency.

Pang Y, Qi X, Qin J, et al.

Frontiers in immunology 2024; (15()):1493398 doi:10.3389/fimmu.2024.1493398.

Safety and efficacy of mitapivat in sickle cell disease (RISE UP): results from the phase 2 portion of a global, double-blind, randomised, placebo-controlled trial.

Idowu M, Otieno L, Dumitriu B, et al.

The Lancet. Haematology 2025; (12(1)):e35-e44 doi:10.1016/S2352-3026(24)00319-3.

Hereditary disorders of ineffective erythropoiesis.

King RA, Khoriaty R

Blood cells, molecules & diseases 2025; (111()):102910 doi:10.1016/j.bcmd.2025.102910.

Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.

Rafat M, Bouraqi Y, Sisakht JM, et al.

International journal of laboratory hematology 2025; doi:10.1111/ijlh.70003.

Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure.

Hsu YH, Jiang CB, Hou JY, et al.

Children (Basel, Switzerland) 2025; (12(11)) doi:10.3390/children12111539.

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.

Sakalian O, Huguenin Y, Pissard S, et al.

Annals of hematology 2026; (105(7)).