报道罕见的女性A型血友病1例,并对其凝血因子进行基因突变分析。患者,女,65岁,因为跌倒后右胸痛2d入院,院内查体提示胸壁皮下血肿,双下肢等长,髋屈曲及内旋受限。测定凝血指标提示APTT61.3s,正常血浆纠正后为41.3s,而PT、FIB、TT均正常。有既往出血史。F活性为2%,F活性为200%,vWF:Ag为120%,vWF:RCof100%,vWF:CBA128%,F结合分析正常;髋关节X片提示:双侧髋臼发育不良,髋关节骨关节炎。临床诊断为血友病A型。提取该患者外周血DNA,根据NM000132之凝血因子F基因序列设计合成了其第14外显子特异的引物,行聚合酶链反应扩增,并对扩增产物进行测序分析,测序结果与标准序列进行比较,发现该患者出现4111A→C杂合突变,使1314位氨基酸由苏氨酸变为脯氨酸,产生一错意突变,该突变未见其它文献报道。 A rare case of female hemophilia A was reported, and clonogenic factors were analyzed for gene mutation. The patient, female, 65 years old, was hospitalized for right chest pain for 2 days after the fall, and the intracranial examination revealed a subcutaneous hematoma on the chest wall, equal length of both lower extremities, limited hip flexion and internal rotation. Determination of coagulation indicators suggest APTT61.3s, normal plasma corrected for 41.3s, and PT, FIB, TT were normal. Have a history of previous bleeding. F activity was 2%, F activity was 200%, vWF: Ag was 120%, vWF: RCof100%, vWF: CBA128%, F binding analysis was normal; hip X-ray showed bilateral acetabular dysplasia, hip joint bone arthritis. Clinical diagnosis of hemophilia A type. According to the sequence of coagulation factor F of NM000132, the 14th exon-specific primers were designed and synthesized. The PCR products were amplified by polymerase chain reaction (PCR) and the amplified products were sequenced. The sequencing results were compared with those of the standard sequence The results showed that there was 4111A → C heterozygous mutation in this patient, which changed the 1314 amino acid from threonine to proline, resulting in a missense mutation. No other reported mutation was found in this patient.