Department of Hematology, IRCH Building, 1st Floor, All India Institute of Medical Sciences (AMS), New Delhi, India.
Clin Appl Thromb Hemost. 2010 Oct;16(5):529-32. doi: 10.1177/1076029609360527. Epub 2010 Feb 10.
A 35-years old male patient presented severe bleeding was diagnosed to have type 3 von Willebrand disease (VWD) and carrier for Glanzmann thrombasthenia (GT). Propositus and family members were studied through basic coagulation tests and genomic DNA analysis. Two offspring of the family were diagnosed to have GT through platelet aggregation along with VWD carrier. The patient with VWD was found positive for homozygous truncating mutation R1659X in VWF gene, and all offspring were heterozygous carriers of null allele. Hence, propositus was a carrier of GT with severe type 3 VWD and wife was a carrier of GT. Thus, it is concluded that there is importance of careful studies of patients even from nonconsanguineous families to exclude unusual coinheritance of congenital hemostatic disorders. If single replacement therapy in patient not responding well then probably co-expression of coagulopathies required and multiple replacement therapy should be given according to clinical and laboratory features.
一位 35 岁男性患者出现严重出血，被诊断为 3 型血管性血友病（VWD）和血管性血友病伴血小板功能不全（GT）携带者。通过基本凝血试验和基因组 DNA 分析对先证者及其家庭成员进行了研究。该家族的两名后代通过血小板聚集和 VWD 携带者被诊断为 GT。VWD 患者在 VWF 基因中发现 R1659X 纯合截断突变阳性，所有后代均为无活性等位基因的杂合携带者。因此，先证者是 GT 严重 3 型 VWD 的携带者，妻子是 GT 的携带者。因此，可以得出结论，即使是来自非近亲家庭的患者，也需要仔细研究，以排除先天性止血障碍的异常共遗传。如果单一替代疗法对患者反应不佳，则可能需要共表达凝血异常，应根据临床和实验室特征给予多次替代疗法。
