Scholarly Resources

Note: Information on Thalassemia and Sickle Cell Anemia may be included because these diseases are similar hemolytic anemias.

The First Published PKD Article

An important part of the Pyruvate Kinase Deficiency history includes the first scholarly work that was published 60 years ago. It identifies PKD as a genetic, hemolytic anemia.

Pyruvate Kinase (PK) Deficiency Hereditary Nonspherocytic Hemolytic Anemia (1962)

American Society of Hematology 2022

Upload: Abstracts Related to Pyruvate Kinase Deficiency 2022

General Articles

Navigating pyruvate kinase deficiency today: how can the disease burden and unmet treatment needs be addressed? Podcast (2023)

Updates and advances in pyruvate kinase deficiency (2023)

Pyruvate kinase deficiency causing priapism: a case study (2023)

Diagnosis, monitoring, and management of pyruvate kinase deficiency in children (2022)

Comorbidities and complications in adults with pyruvate kinase deficiency (2021)

Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency (2021)

Survey of 275 patients and caregivers affected by pyruvate kinase deficiency: impact of communication with hematologists on mental health and quality of life (2021)

Effects of transfusions of stored blood in patients with transfusion-dependent thalassemia (2021)

Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency (2020)

Management of pyruvate kinase deficiency in children and adults (2020)

Prevalence of pyruvate kinase deficiency: A systematic literature review (2020)

The variable manifestations of disease in pyruvate kinase deficiency and their management (2020)

Organ involvement occurs in all forms of hereditary haemolytic anaemia (2019)

The burden of disease in pyruvate kinase deficiency: Patients’ perception of the impact on health-related quality of life (2018)

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study (2018)

Genetic and Rare Diseases Information Center webpage on Pyruvate kinase deficiency (2016)

Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort:Longitudinal risk and disease management (2011)

Diagnosis & Genetics

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population (2023)

Investigating Anemia and the Possibility of Pyruvate Kinase Deficiency: What Is Your Next Step? (2023)

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency (2020)

Molecular heterogeneity of pyruvate kinase deficiency (2020)

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency (2019)

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency (2019)

Unraveling hereditary hemolytic anemia: Clinical sequelae and pathophysiology (2019)

Clinical spectrum of pyruvate kinase deficiency (2018)

Erythrocyte pyruvate kinase deficiency: 2015 status report (2015)

Caregiving & Pediatrics

Pyruvate kinase deficiency in children (2021)

A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation (2021)

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study (2020)

How we manage patients with pyruvate kinase deficiency (2019)

Iron Overload

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency (2023)

Characterizing Iron Overload By Age in Patients Diagnosed with Pyruvate Kinase Deficiency – a Descriptive Analysis from the Peak Registry (2021)

Evaluation of the Main Regulators of Systematic Iron Homeostasis in Pyruvate Kinase Deficiency (2021)

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study (2019)

Treatment Research

Mitapivat versus placebo for pyruvate kinase deficiency. NEJM. (2022)

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency (2021)

Durability of hemoglobin response and reduction in transfusion burden is maintained over time in patients with pyruvate kinase deficiency treated with mitipavat in a long-term extension study (2021)

Ex vivo evaluation of red blood cell adhesion and whole blood thrombosis in pyruvate kinase deficiency (2021)

Lentiviral mediated gene therapy for pyruvate kinase deficiency: interim results of a global phase 1 study for adult and pediatric patients (2021)

Mitipavat improves ineffective erythropoisis and reduces iron overload in patients with pyruvate kinase deficiency (2021)

Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency (2020)

Genotype-response correlation in DRIVE PK, a phase 2 study of mitapivat (AG-348) in patients with pyruvate kinase deficiency (2019)

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency (2019)

Safety and efficacy of mitapivat in pyruvate kinase deficiency (2019)

Phase 1 single- and multiple-ascending-dose randomized studies of the safety, pharmacokinetics, and pharmacodynamics of AG-348, a first-in-class allosteric activator of pyruvate kinase R in healthy volunteers (2018)

Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters (2018)

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency (2018)

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency (2017)

Safe and efficient gene therapy for pyruvate
kinase deficiency

Generation and Export of red blood cell ATP in health and disease (2021)

Towards manufactured red blood cells for the treatment of inherited anemia (2021)

Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic (2020)

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