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

Marissa A. Leblanc, Amanda Bettle, Jason N. Berman, Victoria E. Price, Chantale Pambrun, Zhijie Yu, Marilyn Tiller, Christopher R. Mcmaster, Conrad V. Fernandez

Résultat de recherche: Articleexamen par les pairs

18 Citations (Scopus)

Résumé

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.

Langue d'origineEnglish
Pages (de-à)1307-1309
Nombre de pages3
JournalPediatric Blood and Cancer
Volume63
Numéro de publication7
DOI
Statut de publicationPublished - juill. 1 2016

Note bibliographique

Publisher Copyright:
© 2016 Wiley Periodicals, Inc.

ASJC Scopus Subject Areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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