Rodgers Susan, Duncan Elizabeth
Haematology Division, IMVS, SA Pathology, Frome Rd., Adelaide, SA, Australia.
Methods Mol Biol. 2017;1646:265-276. doi: 10.1007/978-1-4939-7196-1_21.
Hemophilia A is an inherited bleeding disorder caused by a reduced level of factor VIII coagulant activity (FVIII:C) in blood. Bleeding episodes may occur spontaneously in the severe form of hemophilia or after trauma in the milder forms. It is important that patients are diagnosed correctly, which includes placing them into the correct severity category of the disorder so that appropriate treatment can be given. Diagnosis is made by determination of the amount of FVIII:C in the blood, usually using a one-stage factor VIII:C assay. However, approximately one third of patients with mild or moderate hemophilia will have much lower results by the chromogenic assay, with some of them having normal results by the one-stage assay. The chromogenic factor VIII assay is used in some specialized hemophilia reference centers and is recommended for the diagnosis of mild hemophilia A, as this assay is considered to better reflect the severity status of hemophilia patients than the one-stage assay.
甲型血友病是一种遗传性出血性疾病,由血液中凝血因子VIII促凝活性(FVIII:C)水平降低引起。在严重的血友病形式中,出血发作可能自发出现,而在较轻的形式中,出血发作可能在创伤后出现。正确诊断患者非常重要,这包括将他们归类到该疾病的正确严重程度类别中,以便能够给予适当的治疗。诊断通过测定血液中FVIII:C的量来进行,通常使用一期凝血因子VIII:C测定法。然而,大约三分之一的轻度或中度血友病患者通过发色底物法测定的结果会低得多,其中一些患者通过一期测定法得到的结果是正常的。发色底物法凝血因子VIII测定法在一些专门的血友病参考中心使用,并且推荐用于诊断轻度甲型血友病,因为该测定法被认为比一期测定法能更好地反映血友病患者的严重程度状况。