Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with wide ranging and serious consequences affecting health, quality of life, and mortality. The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency. These clinical guidelines were developed by use of GRADE methodology and the AGREE II framework. Experts were invited after consideration of area of expertise, scholarly contributions in PK deficiency, and country of practice for global representation. The expert panel included 29 expert physicians (including adult and paediatric haematologists and other subspecialists), geneticists, laboratory specialists, nurses, a guidelines methodologist, patients with PK deficiency, and caregivers from ten countries. Five key topic areas were identified, the panel prioritised key questions, and a systematic literature search was done to generate evidence summaries that were used in the development of draft recommendations. The expert panel then met in person to finalise and vote on recommendations according to a structured consensus procedure. Agreement of greater than or equal to 67% among the expert panel was required for inclusion of a recommendation in the final guideline. The expert panel agreed on 31 total recommendations across five key topics: diagnosis and genetics, monitoring and management of chronic complications, standard management of anaemia, targeted and advanced therapies, and special populations. These new guidelines should facilitate best practices and evidence-based PK deficiency care into clinical practice.

Benign Hematology Center Van Creveldkliniek University Medical Center Utrecht University Utrecht Utrecht Netherlands

Central Diagnostic Laboratory University Medical Center Utrecht Utrecht University Utrecht Netherlands

Centre for Effective Practice Toronto ON Canada

Centre of Inherited Blood Cell Disorders University Hospital Würzburg Würzburg Germany

Dana Farber Boston Children's Cancer and Blood Disorders Center Harvard Medical School Boston MA USA

Danish Red Blood Cell Center Department of Hematology Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

Department of Hematology St Jude Children's Research Hospital Memphis TN USA

Department of Paediatric Haematology King's College London King's College Hospital London UK

Department of Pediatrics Center for Perinatal Research Abigail Wexner Research Institute Nationwide Children's Hospital Ohio State University Columbus OH USA

Department of Pediatrics Faculty of Medicine and Dentistry Palacky University and University Hospital Olomouc Olomouc Czech Republic

Department of Pediatrics Practice for Pediatric Hematology and Hemostaseology University Children's Hospital Technical University Munich Germany

Departments of Medicine and Laboratory Medicine and Pathobiology Mount Sinai Hospital University of Toronto Toronto ON Canada

Division of Hematology Children's Hospital of Philadelphia Perelman School of Medicine University of Pennsylvania Philadelphia PA USA

Division of Hematology Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati OH USA

Division of Hematology Oncology Massachusetts General Hospital Harvard Medical School Boston MA USA

Division of Medical Oncology and Hematology University Health Network University of Toronto ON Canada

Division of Pediatric Hematology Oncology Lucile Packard Children Hospital Stanford School of Medicine Palo Alto CA USA

Division of Pediatric Hematology Oncology Weill Cornell Medicine New York NY USA

Division of Stem Cell Transplantation and Regenerative Medicine Lucile Packard Children Hospital Stanford School of Medicine Palo Alto CA USA

Duke University Medical Center Durham NC USA

Hematology Unit Pathophysiology of Anemias Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Pediatric Hematology Oncology Children's Healthcare of Atlanta Emory University Atlanta GA USA

Pyruvate Kinase Deficiency Foundation Walled Lake MI USA

Rare Anaemia Disorders Research Laboratory Institut de Recerca Hospital Universitari Vall d'Hebron Barcelona Spain

Rare Blood Diseases Foundation Arnhem Netherlands

Thalassemia International Federation Nicosia Cyprus

Thrive with Pyruvate Kinase Deficiency Foundation Bloomington MN USA

Unit for Red Cell Genetic Disorders Henri Mondor Hospital Créteil France

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