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Allogeneic hematopoietic stem cell transplantation (allo\u2010HSCT) is the only possible treatment option for hematological complications in AMeDS; however, there are no reports addressing allo\u2010HSCT for AMeDS. A 6\u2010year\u2010old female diagnosed with AMeDS accompanying myelodysplastic syndrome with increased blast was successfully treated with cord blood transplantation followed by myeloablative conditioning (MAC). A novel <jats:italic>ADH5<\/jats:italic> c.1101\u20103C&gt;G variant detected in this patient was demonstrated to be a null variant causing several patterns of alternative splicing in <jats:italic>ADH5<\/jats:italic> gene. 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