The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented. Her transfusion dependence was fully reversed following allogeneic hematopoietic stem cell transplantation using a modified reduced-intensity conditioning regimen, and she remains healthy 5 years posttransplant.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132150 | PMC |
| http://dx.doi.org/10.1002/ccr3.1667 | DOI Listing |
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