Lusher J M, McMillan C W
Am J Med. 1978 Oct;65(4):637-48. doi: 10.1016/0002-9343(78)90852-5.
A survey of 11 hemophilia centers produced data concerning 28 females with extremely low levels of factor VIII or IX coagulant activity. Ten of the 28 have hemophilia A, six have hemophilia B, and 12 have severe von Willebrand's disease. The 16 females who have severe factor VIII or factor IX deficiency as an isolated defect exemplify several of the possible genetic explanations for the occurrence of hemophilia in females. All 16 bruise excessively, and several have had recurrent hemarthroses. Three of these girls, ages five, 10 and 23 years, have evidence of chronic hemophilic arthropathy. The 12 females with severe von Willebrand's disease are either homozygous for von Willebrand's disease or severely affected heterozygotes. All 12 have mucous membrane bleeding. In addition, five of the 12 have recurrent hemarthroses and three have evidence of chronic joint disease. However, the major problem in the adult females with von Willebrand's disease has been extreme menorrhagia. One of the seven adults underwent irradiation sterilization and another had a hysterectomy because of menorrhagia. The others have been managed with anovulatory drugs or plasma infusions and EACA. Despite menorrhagia, five pregnancies and deliveries have been uneventful in three of these women.
一项对11个血友病治疗中心的调查得出了有关28名凝血因子VIII或IX促凝活性水平极低的女性的数据。28名患者中，10名患有A型血友病，6名患有B型血友病，12名患有重度血管性血友病。16名女性患有严重的凝血因子VIII或因子IX缺乏症，这是一种孤立的缺陷，体现了女性血友病发生的几种可能的遗传学解释。所有16名患者均有过度瘀伤，有几名患者反复出现关节积血。其中三名女孩，年龄分别为5岁、10岁和23岁，有慢性血友病性关节病的迹象。12名患有重度血管性血友病的女性要么是血管性血友病纯合子，要么是受严重影响的杂合子。所有12名患者均有黏膜出血。此外，12名患者中有5名反复出现关节积血，3名有慢性关节病的迹象。然而，成年血管性血友病女性的主要问题一直是严重的月经过多。7名成年患者中有1名接受了放射绝育，另1名因月经过多进行了子宫切除术。其他患者采用无排卵药物、血浆输注和6-氨基己酸进行治疗。尽管月经过多，但其中三名女性的五次妊娠和分娩均顺利。
