Yamamoto K, Takahashi I
First Department of Internal Medicine, Nagoya University School of Medicine.
Rinsho Ketsueki. 1993 May;34(5):578-82.
In spite of many reports of DNA abnormalities in the hemophilias, the cause of the inhibitor phenotype in the hemophilias has not yet well known. For a better understanding of this problem, we have analyzed the factor VIII and IX gene in the hemophilia A and B patients with inhibitor we are following. In four out of eight hemophilia A inhibitor patients have shown partial gene deletions. In some literature, about 60% of hemophila A inhibitor patients have shown gross gene deletions. It seems likely that the titer of inhibitor in the hemophila A patients who have gross deletions are relatively high. In hemophila B inhibitor patients, on the other hand, not only gross gene deletion but also point mutations or small nucleotide deletions is predisposed to development of inhibitors. We believe that the characterization of both the gene defects and the epitope specificity of the antibodies against factor VIII or IX found in inhibitor patients would clarify the situation and reveal important immunological features of these coagulation factors.
尽管有许多关于血友病患者DNA异常的报道，但血友病患者中抑制物表型的病因尚未完全明确。为了更好地理解这个问题，我们对正在跟踪的患有抑制物的甲型和乙型血友病患者的凝血因子VIII和IX基因进行了分析。在八名甲型血友病抑制物患者中有四名出现了部分基因缺失。在一些文献中，约60%的甲型血友病抑制物患者出现了大片段基因缺失。似乎大片段缺失的甲型血友病患者体内抑制物的滴度相对较高。另一方面，在乙型血友病抑制物患者中，不仅大片段基因缺失，而且点突变或小核苷酸缺失也易导致抑制物的产生。我们认为，对抑制物患者中发现的针对凝血因子VIII或IX的基因缺陷和抗体表位特异性进行表征，将有助于阐明情况并揭示这些凝血因子重要的免疫学特征。
