Laosombat V, Maipang M, Wongchanchailert M
J Med Assoc Thai. 1989 Dec;72(12):701-7.
We described a five-year-old boy with congenital deficiency of factor XIII. He had bled from the umbilical and circumcision sites during the first week of life. He had frequent ecchymoses and hematomas within 12-24 hours after trauma. His parents are first cousins. The screening hemostatic tests of this patient and his parents were within normal limits. Factor XIII, known as "fibrin-stabilizing factor", is a transpeptidase that produces strong covalent bonds between soluble fibrin monomers formed during coagulation. Presumptive diagnosis of factor XIII deficiency was made with a clot solubility screening test and confirmation was accomplished by demonstrating the absence of factor XIII by latex agglutination.
我们描述了一名患有先天性 XIII 因子缺乏症的五岁男孩。他在出生后的第一周，脐带和包皮环切部位出现了出血。受伤后 12 - 24 小时内，他频繁出现瘀斑和血肿。他的父母是近亲。该患者及其父母的止血筛查试验结果均在正常范围内。XIII 因子，即“纤维蛋白稳定因子”，是一种转肽酶，可在凝血过程中形成的可溶性纤维蛋白单体之间产生强共价键。通过凝块溶解度筛查试验对 XIII 因子缺乏症进行了初步诊断，并通过乳胶凝集试验证明 XIII 因子缺失得以确诊。
