Gurumurthy G, Reynolds L, Sutherland M, Thachil J, Grainger J
University of Manchester, Manchester, UK.
Royal Manchester Children's Hospital, Manchester, UK.
Br J Haematol. 2025 Mar;206(3):930-934. doi: 10.1111/bjh.19947. Epub 2024 Dec 9.
This study examines the R90 bleeding and platelet disorders gene panel's utility in thrombocytopenia. The study analysed the correlations between the clinical features of patients with thrombocytopenia and genetic outcomes. The diagnostic yield was 46.6% (41/88) for the overall panel for all patients referred locally. Thrombocytopenia >12 months (95% CI = 19.0-191.0, p < 0.01), having a first-degree relative with thrombocytopenia (16 vs. 7, p < 0.01) and a higher platelet count nadir (67.9 ± 35.0 vs. 39.4 ± 33.9 × 10/L, p < 0.05), were associated with genetic variants, suggesting these as indicators for genetic testing. This supports the R90's role in refining genetic testing criteria in thrombocytopenia.
本研究探讨了R90出血和血小板疾病基因检测组合在血小板减少症中的应用价值。该研究分析了血小板减少症患者的临床特征与基因检测结果之间的相关性。对于本地转诊的所有患者，整个检测组合的诊断率为46.6%（41/88）。血小板减少持续时间>12个月（95%CI=19.0-191.0，p<0.01）、有血小板减少症的一级亲属（16例对7例，p<0.01）以及血小板计数最低点较高（67.9±35.0对39.4±33.9×10⁹/L，p<0.05）与基因变异相关，提示这些可作为基因检测的指标。这支持了R90在完善血小板减少症基因检测标准方面的作用。
