Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.
Pediatr Blood Cancer
; 63(7): 1307-9, 2016 07.
Article
em En
| MEDLINE
| ID: mdl-27038157
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transfusão de Eritrócitos
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Proteínas de Transporte da Membrana Mitocondrial
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Ácido Fólico
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Glicina
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Anemia Sideroblástica
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article