Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.
Int J Hematol. 2011 Jan;93(1):106-11. doi: 10.1007/s12185-010-0731-5. Epub 2010 Dec 8.
The occurrence of transfusion-related alloimmunization against αIIbβ3 is a major concern in patients with Glanzmann thrombasthenia (GT). However, few data are available about molecular defects of GT patients with anti-αIIbβ3 alloantibodies as well as clinical impact of these antibodies on platelet transfusion. Here, we report a case of type I GT with anti-HLA and anti-αIIbβ3 alloantibodies, who underwent laparoscopic total gastrectomy due to gastric cancer. We found a novel β3 nonsense mutation, 892C > T (Arg272X), and the patient was homozygous for the mutation. Laparoscopic gastrectomy was successfully performed with continuous infusion of HLA-matched platelet concentrates and bolus injection of recombinant factor VIIa at 2 h intervals. Total bleeding was 370 mL and no red-cell transfusion was necessary. Flow cytometric analysis employing anti-αIIbβ3 monoclonal antibody revealed that the transfused platelet count was maintained around 20-30 × 10⁹/L during the operation and 10 × 10⁹/L on the following day. Flow cytometric analysis also showed that transfused platelets retained normal reactivity to ADP stimulation. These results indicate that flow cytometry is useful to assess survival and function of transfused platelets in GT patients with anti-αIIbβ3 antibodies.
αIIbβ3 相关同种免疫的发生是 Glanzmann 血小板无力症（GT）患者的主要关注点。然而，关于携带抗-αIIbβ3 同种抗体的 GT 患者的分子缺陷以及这些抗体对血小板输注的临床影响的数据很少。在这里，我们报告了一例伴有抗-HLA 和抗-αIIbβ3 同种抗体的 1 型 GT 病例，该患者因胃癌而行腹腔镜全胃切除术。我们发现了一种新的β3 无义突变，892C > T（Arg272X），并且患者为该突变的纯合子。腹腔镜胃切除术成功进行，持续输注 HLA 匹配的血小板浓缩物，并每隔 2 小时静脉推注重组 VIIa 因子。总出血量为 370 mL，不需要红细胞输注。采用抗-αIIbβ3 单克隆抗体进行流式细胞术分析显示，在手术期间输注的血小板计数维持在 20-30×10⁹/L 左右，次日为 10×10⁹/L。流式细胞术分析还表明，输注的血小板对 ADP 刺激保持正常反应性。这些结果表明，流式细胞术可用于评估携带抗-αIIbβ3 抗体的 GT 患者输注血小板的存活和功能。
