title: Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.
abstract: Congenital sideroblastic anemia (CSA) is a hematological disorder characterized by the presence of ringed sideroblasts in bone marrow erythroid precursors. Mutations in the erythroid-specific glycine mitochondrial transporter gene SLC25A38 have been found in a subset of patients with transfusion-dependent congenital CSA. Further studies in a zebrafish model identified a promising ameliorative strategy with combined supplementation with glycine and folate. We tested this combination in three individuals with SLC25A38 CSA, with a primary objective to decrease red blood cell transfusion requirements. No significant impact was observed on transfusion requirements or any hematologic parameters.
authors.affiliation: Department of Medicine, Dalhousie University, Halifax, Canada.
authors.forename: Marissa A
authors.initials: MA
authors.lastname: LeBlanc
authors.affiliation: School of Nursing, IWK Health Centre, Halifax, Canada.
authors.forename: Amanda
authors.initials: A
authors.lastname: Bettle
authors.affiliation: Divison of Pediatric Hematology/Oncology, IWK Health Centre, Halifax, Canada.
authors.forename: Jason N
authors.initials: JN
authors.lastname: Berman
authors.affiliation: Divison of Pediatric Hematology/Oncology, IWK Health Centre, Halifax, Canada.
authors.forename: Victoria E
authors.initials: VE
authors.lastname: Price
authors.affiliation: Department of Hematopathology, IWK Health Centre, Halifax, Canada.
authors.forename: Chantale
authors.initials: C
authors.lastname: Pambrun
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Canada.
authors.forename: Zhijie
authors.initials: Z
authors.lastname: Yu
authors.affiliation: Department of Pharmacy, IWK Health Centre, Halifax, Canada.
authors.forename: Marilyn
authors.initials: M
authors.lastname: Tiller
authors.affiliation: Department of Pharmacology, Dalhousie University, Halifax, Canada.
authors.forename: Christopher R
authors.initials: CR
authors.lastname: McMaster
authors.affiliation: Divison of Pediatric Hematology/Oncology, IWK Health Centre, Halifax, Canada.
authors.forename: Conrad V
authors.initials: CV
authors.lastname: Fernandez
mesh_terms: D000293:Adolescent; D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics / Q000628:therapy; D017707:Erythrocyte Transfusion; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage*; D005998:Glycine / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C553226:Slc25a38 protein, human; D005492:Folic Acid; D005998:Glycine
keywords: congenital sideroblastic anemia; folate; genetics; glycine