ArticleHaematologica2020
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Article in Haematologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
- Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.International journal of laboratory hematology · 2026Article
- Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.Annals of hematology · 2026Article
- Case Report: Successful hematopoietic stem cell transplantation in pediatric pyruvate kinase deficiency: a single-center Asian case series demonstrating favorable outcomes.Frontiers in immunology · 2026Article
- Overall Survival of Patients With Pyruvate Kinase Deficiency in the UK: A Real-World Study.EJHaem · 2025Article
- Mitapivat for Acquired Pyruvate Kinase Deficiency.Pediatric blood & cancer · 2025Article
- Evaluation of Glucose 6-Phosphate Dehydrogenase, Pyruvate Kinase, and New Generation Inflammation Biomarkers in Prolonged Neonatal Jaundice.Medicina (Kaunas, Lithuania) · 2024Article
- Beyond adenosine triphosphate: unveiling the pleiotropic effects of pyruvate kinase activation in sickle cell anemia.Haematologica · 2024Article
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Article
- Article
- Pyruvate kinase activators: targeting red cell metabolism in sickle cell disease.Hematology. American Society of Hematology. Education Program · 2023Article
- Pyruvate kinase activators for treatment of pyruvate kinase deficiency.Hematology. American Society of Hematology. Education Program · 2023Article
- Review
- Updates and advances in pyruvate kinase deficiency.Trends in molecular medicine · 2023Review
- The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.BMJ open · 2023Article
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.Scientific reports · 2023Article
- Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.Archives of Iranian medicine · 2022Article
- Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency.Blood advances · 2022Article
- Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.American journal of hematology · 2022Review
- Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.Orphanet journal of rare diseases · 2021Review
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including pyruvate kinase enzyme assay and genetic analysis of the PKLR gene. A significant minority of patients with PKD have occult mutations in non-coding regions of PKLR which are missed on standard genetic tests. The biochemical consequences of PKD result in hemolytic anemia due to red cell pyruvate and ATP deficiency while simultaneously causing increased red cell 2,3-diphosphoglycerate, which facilitates oxygen unloading. This phenomenon, in addition to numerous other factors such as genetic background and differences in splenic function result in a poor correlation between symptoms and degree of anemia from patient to patient. Red cell transfusions should, therefore, be symptom-directed and not based on a hemoglobin threshold. Patients may experience specific complications, such as paravertebral extramedullary hematopoiesis and chronic debilitating icterus, which require personalized treatment. The decision to perform splenectomy or hematopoietic stem cell transplantation is nuanced and depends on disease burden and long-term outlook given that targeted therapeutics are in development. In recognition of the complicated nature of the disease and its management and the limitations of the PKD literature, an international working group of ten PKD experts convened to better define the disease burden and manifestations. This article summarizes the conclusions of this working group and is a guide for clinicians and investigators caring for patients with PKD.
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