摘要
对四例血友病甲先证者进行家系调查,并结合二期法Ⅷ:C测定结果进行综合分析,得出Ⅷ:C水平与血友病甲临床表现的轻重相一致;并且多数家系有阳性家族史,而且散发病例也是由传递而来;血友病甲肯定传递者或可能传递者虽然没有临床表现,但Ⅷ:C测定低于正常或在正常值下限范围。
The pedigree was investigated in 4 case of hemophilia A family system and the results of ⅤⅢ: C determined by second phase method were analysis. The results showed that the level of ⅤⅢ: C and clinical manifestations of hemo- philia A were consistent, not only with positive family history in majority family system, but with sporadic hemophilid from transmission. Although the diagnosed tranmitters and the suspicious transmitters showed no clinical ma nifestations the ⅤⅢ: C level was lower than normal value or in lower limit of normal value.
