Ljung R, Holmberg L, Nilsson K O, Thilén A
Clin Genet. 1979 Nov;16(5):364-8. doi: 10.1111/j.1399-0004.1979.tb01017.x.
Fanconi's anaemia and haemophilia A are born inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was not possible to demonstrate a common bone marrow defect or a common immunological or genetical background of the two diseases. The double haemostatic defect created, i.e. Factor VIII deficiency and thrombocytopenia, resulted in only a slight increase in bleeding tendency. A favourable result was obtained with corticosteroid and androgenic treatment.
范可尼贫血和甲型血友病是先天性遗传性疾病，可导致止血缺陷。本文描述了一名患者同时患有这两种罕见疾病的情况。采用一种新开发的免疫技术对该患者的血友病进行了研究，该技术可测定与凝血因子 VIII 活性相关的血浆抗原，结果发现患者患的是中度严重甲型血友病的一种基因变异型。无法证明这两种疾病存在共同的骨髓缺陷或共同的免疫或遗传背景。所产生的双重止血缺陷，即凝血因子 VIII 缺乏和血小板减少，仅导致出血倾向略有增加。采用皮质类固醇和雄激素治疗取得了良好效果。
