[Unrelated donor hematopoietic stem cell transplantation for congenital bone marrow hematopoietic failure complicated with HOXA11, ELANE heterozygous mutation: a case report].

Abstract excerpt

1例主诉为乏力、纳差7年余，全血细胞减少4年余的患者就诊血液病科，血常规示全血细胞减少，骨髓细胞学检查示骨髓增生降低。血液系统基因组全外显子测序分析显示ELANE基因、HOXA11基因、CDH23基因突变，同时双耳听力轻度下降、语言表达不清、双拇指外展受限，诊断为先天性骨髓造血衰竭，行无关供者造血干细胞移植。移植后2年余，血象恢复正常，嵌合体示完全嵌合状态，听力明显恢复。通过造血干细胞移植治愈了该患者血液学异常并改善了双耳听力减弱等临床症状。.

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