Objective Hemophilia A, an X-linked bleeding disorder, affecting 1 in 5 000 males is caused by heterogeneous mutations in factor Ⅷ gene. Inversion mutation in intron 22 of F8C gene remains its leading cause. The aim of this study was to evaluate the frequency and distribution of the intron 22-inversion mutation in the patients and in the family members in the region. Methods 29 hemophilia A patients from Jammu and Kashmir (20 severe, 8 moderate and 1 mild) were analyzed for intron 22-inversion mutation. Results 11 (38%) were positive for the distal type of inversion mutation. The mutation was found in 9/20 (45%) patients with severe factor Ⅷ deficiency and 2/8 (25%) with moderate severity hemophilia A, whereas the patient with mild hemophilia A was found to be negative for inversion mutation. Evaluation of twenty-six female relatives from 11 families of inversion mutation positive patients identified one mother and one sister from one family to be the carrier, suggesting its origin in the mother. Conclusion The present study confirms the intron-22 inversion mutation in F8C gene as the major cause of hemophilia A in the population from Jammu and Kashmir with a higher frequency of inversion mutation in sporadic cases compared to the familial cases.

中国部分城市重型血友病A患者医疗及预后现状调查分析

血友病是一种遗传性出血性疾病,是由于凝血因子Ⅷ(FW)或FⅨ基因突变导致人体内FⅧ或FⅨ水平降低或缺乏,从而导致出血.本病分为血友病A(FⅧ减少或缺乏)和血友病B(FⅨ减少或缺乏)[1-2].来自世界血友病联盟(WFH)的资料表明,血友病A的患病率为105/106男性人口,血友病B的患病率为28/10.男性人口[3].1986年至1989年的流行病学调查结果显示我国血友病的患病率为27.3/106人口[1-2].上述数据提示我国的大多数血友病没有得到诊断或者被误诊.尽管2009年底我国成立了国家血友病病例信息管理中心,但该中心网站(www.hemophilia.com.cn)目前只有7191例血友病患者的信息,提示只有约10%的中国血友病患者得到诊断.为了了解我国血友病患者的治疗情况及健康相关生活质量(Patient health-related quality of life,HRQOL)的数据,我们进行了本项调查并且与其他国家数据进行对比.

血友病A基因诊断和产前诊断技术的研究进展

血友病A(hemophilia A, HA)是一种常见的X连锁隐性遗传性出血性疾病,患病率为1/10000,约占先天性出血性疾病的85%.HA的主要病因是由于 FⅧ基因缺陷而引起的FⅧ含量不足或功能缺陷而不能发挥正常的凝血功能,病人出现自发性或轻微外伤后出血不止,目前对本病尚无根治疗法.因此开展HA家系基因诊断和产前诊断可避免新的HA病人或携带者出生,这对从基因水平咨询HA病人大有益处,现从以下几个方面进行阐述.

血友病A/B的基因诊断

血友病(hemophilia)分为血友病A、B两型.血友病A是由凝血因子Ⅷ(FⅧ)基因缺陷导致血浆FⅧ含量减少或功能异常所致;血友病B是由凝血因子Ⅸ(factor Ⅸ,FⅨ)基因缺陷导致血浆FⅨ含量减少或功能异常所致.两型血友病都是X染色体性连锁隐性遗传病,临床上是以自发性或轻微外伤后出血难止为特征的出血性疾病.

原发性干燥综合征并获得性血友病A1例报道及文献复习

原发性干燥综合征(primary Sj(o)grens syndrome,pSS)是一种主要累及外分泌腺体的慢性炎症性自身免疫病.它合并获得性血友病A(acquired hemophilia A,AHA)罕见.现将本科收治的1例pSS并AH-A患者的诊治情况报道如下.1 临床资料患者,女,63岁,因"口干伴右上肢、左下肢皮肤瘀斑4个月"于2012年3月1日入院.伴随轻微鼻出血、牙龈出血.既往无出血病史.入院查体:生命体征平稳.四肢皮肤见散在片状瘀斑,以右上肢、左下肢明显.胸廓未见异常,双肺叩诊呈清音,双肺呼吸音清,未闻及干湿哕音.心界不大,心律齐,各瓣膜区未闻及病理性杂音.腹部外形正常,全腹软,无压痛及反跳痛,腹部未触及包块,肝、脾肋下未触及.双下肢无水肿.

获得性血友病A二例报告并文献复习

获得性血友病A(acquired hemophilia A,AH-A)是由患者体内自发产生针对凝血因子Ⅷ(FⅧ)的特异性自身抗体而引起的一种出血性疾病.该病以起病急、出血症状严重、中老年人多见、死亡率高为特点,且由于大部分无明确病因,多数伴严重反复出血症状导致疼痛、活动障碍甚至危及生命,该类患者多被误诊,所以提高对该病的认识至关重要.