Clinical Retrospective Analysis Of 780 Patients With Haemophilia A Single Haemophilia Center

Objective: To analyze the clinical features of patients with hemophilia, including the age of onset, clinical symptoms, treatment, inhibitor production and blood transmitted diseases.Method: Seven hundred and eighty patients with hemophilia were recruited in this retrospective study. Genetic assay and inhibitors detection were carried in some patients.Results: During these 780 patients, 687 of whom (88.1% ) had haemophilia A (severe 269, moderate 302, mild 106, subclinical 10), and 93 (11.9% ) of haemophilia B (severe 36, moderate 42, mild 12, subclinical 3). The median age at initial bleeding symptoms was 1.9 years (0.1～70 years) , but the time of initial diagnosis was 5.1 years (0.1～70years). Of these patients, 33.2% patients have family history. The data showed that recurrent and spontaneous bleeding after being born often took place in severe haemophilia patients, especially joints and muscles hemorrhage or mucous bleeding (43.0% patients had joint deformity). In patients with moderate haemophilia, the bleeding often occurred after being injured, especially joints hemorrhage or mucous bleeding, and 25.3% patients had joints deformity;In mild haemophilia patients, mucous hemorrhage were mostly seen, only 14.4% patients had joints deformity. FⅧinhibitors were studied in 286 haemophila A, and 13 patients (4.55%) were positive. HBV infection were found in 18 patients (3.54%), HCV in 42 patients(8.25%), and HIV in 4 patients(0.79%). In 81 patients with haemophila A, intron 22 inversion were found in 25 cases (30.9%)and 3 cases(3.7%)were found to be intron 1 inversion, and each group had 1 case of FⅧinhibitor positive. Conclusions: Patients with haemophila in our center were characterized with familial distribution and delayed diagnosis. Haemophilia A: B is 7.4:1, most of them were in the severe and moderate condition, and high rates of joint deformity. The occurrence of FVIII inhibitor in haemophilia is lower than domestic and foreign reports, and most of them were sever and moderate patients. The patients infected blood transmitted diseases all had the history of repeated infusion of FFP, cryoprecipitate or whole blood without virus inactivated. Intron 1 and 22 inversion testing could be directly used for gene detection in patients and their family. It may be one of the higher risk factors to result in FⅧinhibitor in HA patients.