Miller C H, Hilgartner M W, Aledort L M
Am J Med Genet. 1987 Mar;26(3):591-8. doi: 10.1002/ajmg.1320260313.
We have examined reproduction patterns in hemophilic men and carrier women seen at a hemophilia treatment center. The study group included 309 patients with hemophilia A or B: 194 adults and 115 children from 246 pedigrees; 93% of affected men and 96% of parents of affected children had received genetic counseling. In the collected pedigrees, 65% of affected males were born to women with family history of hemophilia. An additional 23% of mothers were later shown to be carriers. Fewer than 12% of cases could be due to a new mutation in the child. Among 209 hemophilia A carrier tests, 95% of obligate carriers were detectable, 87% of mothers of sporadic cases, 53% of sisters of hemophiliacs, and 24% of other relatives had a high risk of carriership. Of 49 high-risk women seen during or prior to pregnancy, one-half elected prenatal diagnosis. Amniocentesis was performed in 24 cases and 8 were referred for fetoscopy, resulting in 18 normal offspring. Among 25 pregnancies not tested, 14 continued and produced 3 affected males and 11 normal offspring. Of hemophilic men over age 25, 66% have married and 41% (62% of those married) have had children. These observations will serve as a baseline for assessing any change in reproductive patterns occurring with the introduction of new genetic techniques.
我们研究了在一家血友病治疗中心就诊的血友病男性患者和携带者女性的生育模式。研究组包括309例甲型或乙型血友病患者：194名成年人和来自246个家系的115名儿童；93%的患病男性和96%的患病儿童的父母接受过遗传咨询。在收集的家系中，65%的患病男性出生于有血友病家族史的女性。另有23%的母亲后来被证明是携带者。不到12%的病例可能是由于孩子发生了新的突变。在209次甲型血友病携带者检测中，95%的必然携带者可被检测出，散发病例母亲的检测率为87%，血友病患者姐妹的检测率为53%，其他亲属的携带者风险较高的检测率为24%。在孕期或孕前就诊的49名高危女性中，一半选择了产前诊断。24例进行了羊膜穿刺术，8例转诊进行胎儿镜检查，结果有18名后代正常。在25例未进行检测的妊娠中，14例继续妊娠，产下3名患病男性和11名正常后代。25岁以上的血友病男性中，66%已结婚，41%（已婚者中的62%）育有子女。这些观察结果将作为评估引入新基因技术后生育模式发生任何变化的基线。
