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dc.contributor.authorGrace, RF
dc.contributor.authorCohen, L
dc.contributor.authorEgan, S
dc.contributor.authorWells, T
dc.contributor.authorWitherspoon, B
dc.contributor.authorRyan, A
dc.contributor.authorSalek, Mir-Saeed Shayegan
dc.contributor.authorBodie, S
dc.contributor.authorKlaassen, RJ
dc.date.accessioned2018-12-20T01:16:21Z
dc.date.available2018-12-20T01:16:21Z
dc.date.issued2018-12-01
dc.identifier.citationGrace , RF , Cohen , L , Egan , S , Wells , T , Witherspoon , B , Ryan , A , Salek , M-S S , Bodie , S & Klaassen , RJ 2018 , ' The Burden of Disease in Pyruvate Kinase Deficiency: Patients' Perception of the Impact on Health-Related Quality of Life ' , European Journal of Haematology , vol. 101 , no. 6 , pp. 758-765 . https://doi.org/10.1111/ejh.13128
dc.identifier.issn0902-4441
dc.identifier.urihttp://hdl.handle.net/2299/20874
dc.description.abstractObjectives: This study explored how signs and symptoms of pyruvate kinase (PK) deficiency, a rare hemolytic anemia caused by mutations in the PKLR gene, impacts patients’ health-related quality of life (HRQoL). Methods: Interviews with 21 adults with PK deficiency in the United States, Netherlands, and Germany were conducted. Participants were asked to describe signs, symptoms, and impacts of the disease on their daily lives. Interviews were transcribed and analyzed using qualitative analysis methods. Results: The most common signs and symptoms reported were yellow eyes (n = 19), tiredness (n = 18), yellow skin (n = 17), fatigue (n = 15), low energy (n = 13), and shortness of breath (n = 13). Furthermore, signs and symptoms of PK deficiency negatively impact the ability to perform physical activities, appearance, social activities, emotional states, activities of daily living, leisure activities, work and/or school, sleep, and cognitive states of those living with PK deficiency. A conceptual model is presented that further demonstrates the profound impact that signs and symptoms of PK deficiency have on dimensions of patients’ HRQoL. Conclusions: This is the first study that provides patient perspective on the burden of living with PK deficiency and lays the foundation for future studies to examine the effect of pharmacologic interventions on overall HRQoL for patients living with PK deficiency.en
dc.format.extent8
dc.format.extent440190
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Haematology
dc.subjectanemia
dc.subjectburden
dc.subjecthealth-related quality of life
dc.subjecthemolytic anemia
dc.subjectpyruvate kinase deficiency
dc.subjectHematology
dc.titleThe Burden of Disease in Pyruvate Kinase Deficiency: Patients' Perception of the Impact on Health-Related Quality of Lifeen
dc.contributor.institutionDepartment of Pharmacy, Pharmacology and Postgraduate Medicine
dc.contributor.institutionPublic Health and Patient Safety Unit
dc.contributor.institutionCentre for Health Services and Clinical Research
dc.contributor.institutionSchool of Life and Medical Sciences
dc.contributor.institutionDepartment of Clinical and Pharmaceutical Sciences
dc.description.statusPeer reviewed
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85054085387&partnerID=8YFLogxK
rioxxterms.versionofrecord10.1111/ejh.13128
rioxxterms.typeJournal Article/Review


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