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Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia
Author(s) -
LeBlanc Marissa A.,
Bettle Amanda,
Berman Jason N.,
Price Victoria E.,
Pambrun Chantale,
Yu Zhijie,
Tiller Marilyn,
McMaster Christopher R.,
Fernandez Conrad V.
Publication year - 2016
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25981
Subject(s) - sideroblastic anemia , medicine , glycine , folic acid , anemia , bone marrow , blood transfusion , red blood cell , gastroenterology , amino acid , biochemistry , biology
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.