Yang Kun, Fu Peixiao, Xu Jinyun, Jiang Hao, Yu Jie, Luo Chunhai, Gu Jiaowei
Department of Pediatrics Taihe Hospital Affiliated of Hubei University of Medicine Shiyan Hubei China.
Department of Dermatology Taihe Hospital Affiliated of Hubei University of Medicine Shiyan Hubei China.
EJHaem. 2025 Jun 13;6(3):e70068. doi: 10.1002/jha2.70068. eCollection 2025 Jun.
Inherited thrombocytopenias (ITs) are a diverse group of hematological disorders. This study reports a novel case of severe thrombocytopenia in two male twins from nonconsanguineous parents. Whole exome sequencing (WES) identified a heterozygous genetic variant (c.1766T > C; p.L589S) in the helicase domain of the gene in the twins, their mother, and maternal grandmother, while the father and maternal grandfather did not carry the genetic variant. Despite carrying the genetic variant, the mother and maternal grandmother showed no abnormal phenotypes. The twins exhibited significantly reduced platelet counts, abnormal megakaryocyte accumulation, and arrested maturation, broadening the spectrum of SLFN14-related thrombocytopenia. : The authors confirm that registration of a clinical trial is not necessary for this submission.
遗传性血小板减少症（ITs）是一组多样的血液系统疾病。本研究报告了一例来自非近亲父母的男性双胞胎患严重血小板减少症的新病例。全外显子组测序（WES）在双胞胎及其母亲和外祖母的该基因解旋酶结构域中鉴定出一个杂合基因变异（c.1766T>C；p.L589S），而父亲和外祖父未携带该基因变异。尽管携带该基因变异，母亲和外祖母并未表现出异常表型。双胞胎表现出明显降低的血小板计数、异常的巨核细胞积聚和成熟停滞，拓宽了与SLFN14相关的血小板减少症的范围。作者确认本投稿无需进行临床试验注册。
