Aznar J A, España F, Aznar J, Tascon A, Jimenez C
Scand J Haematol. 1978 Aug;21(2):94-8. doi: 10.1111/j.1600-0609.1978.tb02498.x.
3 cases of Fletcher factor deficiency in a family not related to the 6 families already published (Hathaway et al 1965, Hattersley & Hayse 1970, Abildgaard & Harrison 1974) are studied. In the family described here, 3 of 4 siblings have a Fletcher factor level of less than 1% and the fourth has a level of 46%; the Fletcher factor level in the father is 48% and in the mother 38%. This suggests an autosomal recessive transmission. Clinically they do not present spontaneous bleedings and only one of the siblings required a unit of blood after an amygdalectomy. It is also of interest to emphasize that 3 of the siblings suffered from congenital multiple arthrogryposis and that 2 of them presented the arthrogryposis together with the Fletcher factor deficiency, a circumstance which could have been favored by the consanguinity of the parents. The fact that the family described here is white and of Mediterranean origin contradicts the idea that there exists a special predisposition among members of the black race for this disease.
对一个与已发表的6个家族(哈瑟韦等人,1965年;哈特斯利和海斯,1970年;阿比尔德加德和哈里森,1974年)无关的家族中的3例弗莱彻因子缺乏症进行了研究。在此描述的家族中,4个兄弟姐妹中有3个的弗莱彻因子水平低于1%,第4个为46%;父亲的弗莱彻因子水平为48%,母亲为38%。这提示为常染色体隐性遗传。临床上,他们没有自发性出血,只有一个兄弟姐妹在扁桃体切除术后需要输一个单位的血。还值得强调的是,3个兄弟姐妹患有先天性多发性关节挛缩症,其中2个同时患有关节挛缩症和弗莱彻因子缺乏症,这种情况可能因父母近亲结婚而更为常见。这里描述的家族是白人且来自地中海地区,这一事实与黑人种族成员对此病存在特殊易感性的观点相矛盾。