Article
Comorbidities and complications in adults with pyruvate kinase deficiency.
European journal of haematology - 1 Apr 2021
Boscoe Audra N, Yan Yan, Hedgeman Elizabeth, van Beers Eduard J, Al-Samkari Hanny, Barcellini Wilma, Eber Stefan W, Glader Bertil, Yaish Hassan M, Chonat Satheesh, Sharma Mukta, Kuo Kevin H M, Neufeld Ellis J, Wang Heng, Verhovsek Madeleine, Sheth Sujit, Grace Rachael F
Abstract excerpt
OBJECTIVES: Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population remain poorly quantified. METHODS: Data for patients aged ≥ 18 years with two confirmed PKLR mutations were obtained from the PK deficiency Natural History Study...
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