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为了解遗传性因子ⅩⅢ缺乏症的遗传情况，对其１例女性患者家系进行了调查，并做了实验室尿素定性检查，ⅩⅢ因子活性测定，Ａ、Ｓ亚单位免疫火箭电泳抗原测定。患者在出生后脐带及脐带瘢痕处出血，其父母非近亲结婚，亦无出血史。患者有一兄及三姐妹，其中大姐出生后死于脐带出血。其妹２岁时死亡，死因不详。其他人均正常。检查结果显示，患者血凝块在５ｍｏｌ／Ｌ尿素中迅速溶解，其他人均在２４小时内无变化（不溶）。患者因子ⅩⅢ活性为０％。因子ⅩⅢＡ亚单位抗原为０％，Ｓ亚单位抗原为８．２％。其父、母及其姐因子ⅩⅢ活性分别为２５％、５０％、２５％。ⅩⅢＡ：Ａｇ分别为５２％、５８％、５８％。ⅩⅢＳ：Ａｇ分别为６６％、６８％、６６％。上述结果表明：患者为遗传性因子ⅩⅢ缺乏症。其父母及其姐均为携带者。
In order to understand the inheritance of hereditary factor XIII deficiency, a family of female patients was investigated, qualitative urine tests were performed in the laboratory, XIII factor activity was measured, and A and S subunits were detected by immunomagnetic rocket electrophoresis. The patient had bleeding from the umbilical cord and umbilical cord scars after birth, and his parents were not married to a close relative and had no history of bleeding. The patient had one brother and three sisters, and the older sister died of umbilical cord bleeding after birth. Her sister died at the age of 2 and the cause of death was unknown. Others are normal. The test results showed that the patient’s blood clot quickly dissolved in 5 mol/L urea, and the other individuals did not change (insolubilized) within 24 hours. Patient XIII activity was 0%. Factor XIIIA subunit antigen was 0% and S subunit antigen was 8.2%. Their parent, mother and sister’s factor XIII activity were 25%, 50%, and 25%, respectively. XIIIA: Ag was 52%, 58%, and 58%, respectively. XIIIS:Ag was 66%, 68%, and 66%, respectively. The above results indicate that the patient is hereditary factor XIII deficiency. Their parents and sisters are carriers.