Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia
- LeBlanc, M.A., Bettle, A., Berman, J.N., Price, V.E., Pambrun, C., Yu, Z., Tiller, M., McMaster, C.R., Fernandez, C.V.
- Pediatric blood & cancer 63(7): 1307-9 (Review)
- Registered Authors
- Berman, Jason
- congenital sideroblastic anemia, folate, genetics, glycine
- MeSH Terms
- Anemia, Sideroblastic*/genetics
- Anemia, Sideroblastic*/therapy
- Erythrocyte Transfusion*
- Folic Acid/administration & dosage*
- Glycine/administration & dosage*
- Mitochondrial Membrane Transport Proteins/genetics*
- 27038157 Full text @ Pediatr Blood Cancer
LeBlanc, M.A., Bettle, A., Berman, J.N., Price, V.E., Pambrun, C., Yu, Z., Tiller, M., McMaster, C.R., Fernandez, C.V. (2016) Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. Pediatric blood & cancer. 63(7):1307-9.
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
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Engineered Foreign Genes
Errata and NotesA brief report of Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.