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一名轻度甲型血友病患者35年间凝血因子VIII水平的正常化情况。

Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period.

作者信息

Mainwaring C J, Evans J, Chana J, Lewis H

机构信息

Department of Haematology, North Hampshire Hospital, Basingstoke, UK.

出版信息

Haemophilia. 2006 Nov;12(6):668-71. doi: 10.1111/j.1365-2516.2006.01353.x.

Abstract

We report the case of a 45-year-old man who was diagnosed in June 1969 9 years old as having mild haemophilia A following a traumatic left shoulder bleed when his factor VIII (FVIII) activity was 11 IU dL(-1) based on a two-stage assay. The bleed resolved following treatment with intravenous cryoprecipitate. There was no family history of haemophilia. Cryoprecipitate infusions were required to treat further traumatic bleeds between 1971 and 1981. During this time, his FVIII activity was confirmed at 14 IU dL(-1). He defaulted many hospital appointments until 1991 when his FVIII activity had risen to 42 IU dL(-1). There was no evidence of infection, inflammatory or liver disease to account for this change. By 2005 he had a normal FVIII activity of 62 IU dL(-1) based on a one-stage assay. FVIII gene analysis confirmed a codon 531 mutation. It appeared that the discrepant FVIII results related to whether a two-stage or one-stage assay was used that has been previously reported for other patients with these mutations. We felt it important to raise awareness that this phenomenon may lead to apparent correction of haemophilia A.

摘要

我们报告了一例45岁男性的病例,该患者于1969年6月被诊断为9岁,因左肩外伤出血后被诊断为轻度甲型血友病,当时基于两阶段检测法,其凝血因子VIII(FVIII)活性为11 IU dL(-1)。经静脉注射冷沉淀治疗后出血得到缓解。患者无血友病家族史。在1971年至1981年期间,需要输注冷沉淀来治疗进一步的创伤性出血。在此期间,他的FVIII活性经确认是14 IU dL(-1)。直到1991年他的FVIII活性升至42 IU dL(-1)之前,他多次未赴医院预约就诊。没有证据表明感染、炎症或肝脏疾病可解释这一变化。到2005年,基于单阶段检测法,他的FVIII活性正常,为62 IU dL(-1)。FVIII基因分析证实存在密码子531突变。似乎FVIII结果的差异与使用两阶段检测法还是单阶段检测法有关,此前已有其他具有这些突变的患者有过相关报道。我们认为提高对这一现象的认识很重要,因为它可能导致甲型血友病的明显纠正。

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