Gaucher Disease Screening at a General Adult Haematology Referral, Single Tertiary Care Centre: A Prospective Study
Journal Title: Journal of Blood Disorders & Transfusion - Year 2018, Vol 9, Issue 2
Abstract
Background: Gaucher Disease (GD) is the most common hereditary lysosomal storage disease whereglucocerebrosidase deficiency leads to glycolipid accumulation in macrophages. Given its non-specific symptoms,GD may be under-recognized by physicians.Objective: The goal of our study is to prove the feasibility of screening high risk patient for GD.Participants and Design: In 1 year, 221 patients with thrombocytopenia and/or splenomegaly from three benignhematology clinics (three half-days per week) were prospectively enrolled and screened for GD using a validatedhigh-throughput fluorescent dried blood spot assay.Key Results: Of the 221patients tested, 11 had a positive initial screening test and two were confirmedheterozygotes for the gene encoding β-glucocerebrosidase.Conclusion: This study has demonstrated the feasibility of screening high risk patients for GD. Expanding toother centres, this number could increase substantially allowing for a larger sample size to power exploration ofadditional hypotheses
Authors and Affiliations
Steven A Russell, Mike Keeney, Ben Hedley, Margo Bode, Joy Mangel, Alan Gob, Selay Lam, Chai Phua, Cyrus C Hsia, Michelle Sholzberg
Keywords
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- EP ID EP582720
- DOI 10.4172/2155-9864.1000402
- Views 94
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Gaucher Disease Screening at a General Adult Haematology Referral, Single Tertiary Care Centre: A Prospective Study
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