500例血友病回顾性分析

Retrospective study on 500 haemophilia patients

目的 :提高血友病的诊治水平。方法 :分析 5 0 0例血友病患者的临床特点 ,并对部分患者进行了基因分析、家系调查及抗体检测。结果 :5 0 0例血友病患者中 ,甲型 45 5例 (重型 185例 ,中型 148例 ,轻型 12 2例 ) ,乙型 45例 (重型 14例 ,中型 2 2例 ,轻型 9例 )。 46例血友病甲患者 (重型 30例 ,中型 12例 ,轻型 4例 )测定FⅧ因子抗体 ,抗体阳性的例数分别为 6例 ,2例和 0例。 2 2例血友病甲家系采用BclⅠ ,XbalⅠ多态位点和VNTR方法检测 ,检出率分别为 5 5 % ,45 %和 36 %。 10例血友病患者进行了 2 2内含子倒位分析 ,显示 5例有倒位 ,均为重型。结论 :我国血友病患者基数大 ,集中 ,往往呈家族性分布。且致残率高 ,中、重型较多 。

Objective:To develop the level of diagnosis and treatment on haemophilia. Method:To analyze the clinical symptoms of 500 haemophilia patients, and to some patients, carry on genetic assay, family investigation, inhibitors detection.Result:455 haemophilia A (severe,185;moderate,148;mild,122) and 45 haemophilia B patients (severe,14;moderate,22;mild,9) were found in the 500 samples. In these patients, dysarthrosis was found in 86 samples, and 122 patients with family history were found. FⅧ inhibitors were detected in 46 haemophila A (severe, 30; moderate ,12; mild 4). Inhibitors were found in 6 of 30 severe patients, 2 of 12 moderate patients. 22 haemophilia A families were assayed by polymorphism sites BcL I,Xbal I and VNTR, and positive rate was respectively 55%,45% and 36.4 %. Intron 22 recombinations were found in 5 of 10 haemophilia samples, and all the positive samples were severe type. Conclusion:We should do more in treatment,diagnosis and genetics direction about haemophilia.