摘要
目的对1例初步诊断为巨大血小板综合征(BSS)患者进行确诊。方法用流式细胞术(FCM)检测了患者血小板膜糖蛋白(GP)Ⅰb、Ⅲa和Ⅸ的含量,并与10名正常人的检测结果作了比较。结果 BSS 患者血小板膜 GP Ⅰ b 和Ⅸ的含量,仅相当于正常人的3.12%和0.55%,而 GP Ⅲ a 的水平却为正常人含量的167.71%。患者血液中平均血小板体积为23.2f1,巨大血小板(>24f1)占12%。血涂片中巨大血小板占9%。结论患者符合 BSS 的诊断。FCM 是一种简便、快速、准确的 BSS诊断方法,尤其有助于不典型 BSS 患者的诊断。
Objective Bernard-Soulier syndrome(BSS)is a hereditary platelet disorder due to the absence or a marked reduction of platelet membrane glycoprotein(GP)Ⅰb-Ⅸ complex.The amount of platelet membrane GP Ⅰb,GP Ⅲ a and GP Ⅸ of a patient and 10 healthy controls were measured by flow cytometry to diagnose BSS.Methods Whole blood was anticoagulated with sodium citrate(106 mmol/ L)and platelet-rich plasma(PRP)was isolated by centrifugation.The platelets were then fixed with 1% paraformaldehyde and washed.Subsequently,the fixed platelets were incubated with monoclonal antibodies specific for GP Ⅰb,GP Ⅲa and GP Ⅸ,and were stained with fluorescein isothiocyanate-con- jugated goat antimouse immunoglobulins.The amount of platelet membrane GP Ⅰb,GP Ⅲa and GP Ⅸ was analyzed using a FACS 420 flow cytometer(Becton-Dickinson).Results As expected,platelets from the BSS patient exhibited very low levels of GP Ⅰb and GP Ⅸ(3.12% and 0.55% of control,re- spectively),but markedly increased level of GP Ⅲa(167.71% of control).The amount of circulating giant platelets of the patient was 12% and the mean platelet volume was 23.2 fl(control:8～12 fl),as measured by Baker 810 platelet analyzer.The quantity of giant platelets in blood smear of the patient was 9%.Conclusion These data indicated that the patient was in accordance with BSS.The results show that patients with BSS exist in China.Flow cytometry as a way of simplicity,rapidity and accura- cy could be used for diagnosis of BSS,especiallyx in atypical cases.
