To Study The Intron 22 And Intron 1 Inversion In Patients With Hemophilia A

Objective:(1) The study was aimed to improve and consummate the detection of the intron 22 inversionand intron 1 inversion in hemophilia A(HA) patients by test the incidence rate of intron 1inversion and intron 2 inversion in patients with HA;(2) To preliminarily investigate the correlation between the intron inversion and FⅧinhibitor.Methods:(1) Totally 130 HA patients whose FⅧ:C activity were measured by one-stage coagulationassay were enrolled. There were 91 severe patients, 13 moderate patients and 26 wild patientsamong the HA patients.FⅧinhibitor was screened by Bethesda method .(2) 130 patients were directly detected by multiplex PCR method for intron 1 inversion, 71patients were detected by long-distance PCR method for inversion 22 among the 130patients.Results:(1)Among the 130 patients, 6 patuents were found that have inhibitors which accounted for4.6 percents of all the patients,all of the 6 patients were severe patients which accounted for6.5 percents of severe patients .The Bethesda units of the patients are 2.3,3.6,24.4,32,121.6and 345.6.(2) In 130 unrelated patients,2 severe patients were found intron 1 inversion which accountedfor 1.5 percents of 130 patients and 2.2 percents of 91 severe patients.(3)18 patients were found intron 22 inversion among the 71 patients, that the incidence ratewas 23.9 percents. There were 34 severe HA patients in the 71 patients, 16 patients werefound intron 22 inversion positive which accounted for 47.1 percents of total 34 severepatients.Conclusions:(1) The incidence rate of inhibitors of this group patients was lower than the rate which wasreported by the foreign literatures.(2)The incidence rate of intron 22 inversion of this group patients was close to the rate whichwas reported by the foreign literatures. But the rate of the intron 1 inversion was lower thanthe rate of the foreigners.