Pedigree Investigation And Preliminary Phenotypic Analysis Of An Inherited Thrombophilia Han Family In Pearl River Delta Region

Objective:To study the genetic occurrence, specific phenotype, intervention effect of huoxuehuayu therapy of TCM by investigating an inherited thrombophilia Han family of the Pearl River Delta region which provide the basis and direction for further study on molecular defects and gene mutations. Methods:Collect some clinical information of an inherited thrombophilia family under the epidemiological investigations of Indigenous Han population in the Pearl River Delta. Using pedigree analysis that is starting from the proband, investigating the number, kinship and the genetic traits distribution to draw a family tree by which that can analysis onset type of genetic disease. Determination the dangerous factor that coagulant function, antithrombin activity, proteinC:antigen (PC:Ag), proteinS:antigen(PS:Ag), coagulation factorâ…«, PAI-1 and so on by Peripheral blood samples collection to probe into the probable genetic phenotype. The data collected were analyzed with SPSS 13.0 statistical software. To summarize the experience and explore the predominance of blood-activiating and stasis-dissolving drugs SXYAT in treatment of inherited thrombophilia by retrospective study on the all affected members of the pedigree.Results:In this paper, we collected a 4th generation pedigree with 38 members, of which a total of 28 siblings, the late 1 (II:1). Which has 9 of the patients, male to female ratio was 4:5, suffering from the disease died 1 (â…¡:1) under a comprehensive family survey on the inherited thrombophilia pedigree in Pearl River. The detection indicators of coagulation were nonspecific in Laboratory screening which mostly in the normal range just as the antithrombinâ…¢activity (AT-III), and the risk factors of test conform to clinical features. Symptoms were mainly deep vein thrombosis,2 cases with pulmonary embolism. The symptoms improved significantly after cooperation of Chinese and Western medicine treatment that some cases were recanalization, and some patients were followed-up in out-patient clinic after leaving hospital whose condition were stable.Conclusion:The epidemiological investigations of Indigenous Han population in Nanhai were autosomal dominant that the exact genetic phenotype was uncertain. But we can rule out the initial AT-III deficiency according to the screening test that the AT-III activity were normal. Risk factor test results are biased in favor of anticoagulant protein C, protein S deficiencies, but required further refinement. Meanwhile the continued exclusion of other types and may have complex defects. Clinical efficacy, the economic governance of the members of the Chinese Traditional Medicine has good reactivity, and safe, effective and worthy of further promotion and in-depth study.