Abstract | 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 (NCT02053480). Frequencies of select conditions were compared with an age- and sex-matched cohort from a general insured US population without PK deficiency. RESULTS: CONCLUSIONS: Even never transfused patients with PK deficiency had higher rates of select comorbidities and complications than individuals without PK deficiency.
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Authors | Audra N Boscoe, Yan Yan, Elizabeth Hedgeman, Eduard J van Beers, Hanny Al-Samkari, Wilma Barcellini, Stefan W Eber, Bertil Glader, Hassan M Yaish, Satheesh Chonat, Mukta Sharma, Kevin H M Kuo, Ellis J Neufeld, Heng Wang, Madeleine Verhovsek, Sujit Sheth, Rachael F Grace |
Journal | European journal of haematology
(Eur J Haematol)
Vol. 106
Issue 4
Pg. 484-492
(Apr 2021)
ISSN: 1600-0609 [Electronic] England |
PMID | 33370479
(Publication Type: Journal Article)
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Copyright | © 2020 Agios Pharmaceuticals, Inc. European Journal of Haematology Published by John Wiley & Sons Ltd. |
Chemical References |
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Topics |
- Adult
- Alleles
- Anemia, Hemolytic, Congenital Nonspherocytic
(epidemiology, etiology)
- Comorbidity
- Female
- Genotype
- Humans
- Male
- Middle Aged
- Mutation
- Prevalence
- Pyruvate Kinase
(deficiency, genetics)
- Pyruvate Metabolism, Inborn Errors
(epidemiology, etiology)
- Young Adult
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