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'origine | English |
---|---|
Pages (de-à) | 1307-1309 |
Nombre de pages | 3 |
Journal | Pediatric Blood and Cancer |
Volume | 63 |
Numéro de publication | 7 |
DOI | |
Statut de publication | Published - juill. 1 2016 |
Note bibliographique
Publisher Copyright:© 2016 Wiley Periodicals, Inc.
ASJC Scopus Subject Areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology