PUBLICATION

Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia

Authors
LeBlanc, M.A., Bettle, A., Berman, J.N., Price, V.E., Pambrun, C., Yu, Z., Tiller, M., McMaster, C.R., Fernandez, C.V.
ID
ZDB-PUB-160403-4
Date
2016
Source
Pediatric blood & cancer   63(7): 1307-9 (Review)
Registered Authors
Berman, Jason
Keywords
congenital sideroblastic anemia, folate, genetics, glycine
MeSH Terms
  • Adolescent
  • Adult
  • Anemia, Sideroblastic*/genetics
  • Anemia, Sideroblastic*/therapy
  • Erythrocyte Transfusion*
  • Female
  • Folic Acid/administration & dosage*
  • Glycine/administration & dosage*
  • Humans
  • Male
  • Mitochondrial Membrane Transport Proteins/genetics*
  • Mutation*
PubMed
27038157 Full text @ Pediatr Blood Cancer
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.
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Errata and Notes
A brief report of Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.