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Fast Facts: Pyruvate Kinase Deficiency

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Fast Facts: Pyruvate Kinase Deficiency

By Wilma Barcellini,
Bertil Glader and
Rachael Grace

Published 2018

64 pages, 11 illustrations

ISBN 978-1-910797-88-4

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You may be unfamiliar with pyruvate kinase (PK) deficiency. It is a rare inherited enzyme disorder that affects the glycolytic pathway used by red blood cells to generate energy, manifesting as hemolytic anemia. The symptoms vary greatly between individuals, making diagnosis difficult, and management primarily comprises supportive treatments.

Written by experts in the field, Fast Facts: Pyruvate Kinase Deficiency provides a comprehensive introduction to the condition, including details of:
• the underlying defect
• its mode of inheritance, and the relationship between genotype and phenotype
• how the condition manifests
• the fundamentals of diagnosis and how to differentiate it from a heterogeneous group of hemolytic disorders
• monitoring and managing the complications that may arise.

Fast Facts: Pyruvate Kinase Deficiency will be of interest to primary care providers, hematologists, oncologists, pediatricians, internal medicine specialists, hematology nurses and medical students; indeed, anyone who wishes to learn more about this rare genetic blood disorder.

Contents
• Overview
• Epidemiology and etiology
• Differential diagnosis
• Diagnosis of pyruvate kinase deficiency
• Complications and monitoring
• Supportive treatment

 

The authors

Wilma Barcellini

MD PhD Associate Professor in Blood Diseases, Oncology and Rheumatology, University of Milan; Director of Pathophysiology, Anemia Unit, Ospedale Maggiore Policlinico Foundation, Milan, Italy


Bertil Glader

MD PhD Professor of Pediatrics (Hematology/Oncology), Director, Red Blood Cell Special Studies Laboratory, Stanford University School of Medicine, Palo Alto, California, USA

 


Rachael Grace

MD MMSc Assistant Professor, Harvard Medical School, Dana-Farber/Boston Children’s Cancer and
Blood Disorders Center, Boston, Massachusetts, USA


 

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