Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. Issue 7 (1st April 2016)

• Record Type: Journal Article
• Authors: LeBlanc, Marissa A.; Bettle, Amanda; Berman, Jason N.; Price, Victoria E.; Pambrun, Chantale; Yu, Zhijie; Tiller, Marilyn; McMaster, Christopher R.; Fernandez, Conrad V.
• Is Part Of: Pediatric blood & cancer. Volume 63:Issue 7(2016)
• Page Start: 1307
• Page End: 1309
• Publication Date: 2016-04-01
• Subjects: congenital sideroblastic anemia -- folate -- genetics -- glycine; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25981
• Languages: English
• ISSNs: 1545-5009

Abstract

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.