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
Related Articles
- EP ID EP582720
- DOI 10.4172/2155-9864.1000402
- Views 105
- Downloads 0
A Basic Screening Test for Hereditary Hemochromatosis
Hereditary Hemochromatosis (HH) is a multiorgan disease defined as systemic iron overload, as a result of a reduction in the serum concentration of the hormone hepcidin which causes increased activity of ferroportin, the...
β-Thalassemia Caused by De novo Mutation in the β-globin Gene Identified in Two Bangladeshi Families
De novo mutations represent a unique example of how rare mode of inheritance of genetic variations caninfluence the onset of genetic diseases. Most of the mutations causing β- thalassemia in Bangladeshi p...
Comparison of Two Methods of Transfusion Therapy for Stroke Prevention in Sickle Cell
Aim: Chronic blood transfusions are essential to the care of sickle cell patients at high risk for morbidity andmortality due to stroke. In our comprehensive sickle cell centre, we support chronic transfusion with rapid...
Staphylococcus aureus Sepsis in a Patient with Secondary Acute Myelogenous Leukemia
We present a case of a 72 year-old female with a history of secondary Acute Myelogenous Leukemia (AML), in the setting of a preceding Myelodysplastic Syndrome (MDS) who developed acute chills, myalgias, and sinus tachyca...
Myocardial Infarction caused by Triple-Hit Lymphoma
Triple Hit Lymphoma (THL) is an extremely rare and aggressive form of Non-Hodgkin’s lymphoma with morphologic, phenotypic and genetic features of both diffuse large B cell lymphoma (DLBCL) and Burkitt’s lymphoma (BL). It...