The First Part Association Analysis Of The ~G-γ Hemoglobin Gene Promoter -158C/T Polymorphism With Hemoglobin E/β-Thalassemia Major

Objective To investigate the association between the -158C/T polymorphism in the promoter of ~G-γhemoglobin gene and high fetal hemoglobin(HbF) in hemoglobin E/β-thalassemia major patients in chinese.Methods Polymerase chain reaction(PCR),Restriction fragment length polymorphism(RFLP) and sequence analysis were applied to learn about the clinical characteristics of E/β-thalassemia major patients and determine the genotype of -158C/T polymorphism between all patients and healthy controls.Results The samples from 32 HbE/β-thalassemia major patients and 30 healthy controls were tested.Among them,Hb F in E/β-thalassemia major patients were far more increaed than in control.Meanwhile,the differences of ~G-γ-158C/T polymorphism between HbE/β-thalassemia patients and controls were obviously displayed.The Xmn I+/—in patiens group was more common than in controls(65.63%vs 3.33%,P＜0.01).In 32 HbE/β-thalassemia major patients,more analysis indicated the HbF in Xmn I+/—patients was significantly higher than in Xmn I—/—(42.45% vs 26.64%,P＜0.01),and the analysis of relevance conformed that ~G-γ-158C/T polymorphism were correlated with the increased HbF(r_p=0.588).Conclusion Our study suggested that the mutation frequency of ~G-γ, hemoglobin gene promoter -158 C/T in Hb E/β-thalassemia major patients were obviously higher than controls.Meanwhile,the HbF was significantly increased in Xmn I+/—patients than Xmn I—/—patients.The promoter of ~G-γhemoglobin gene -158C/T polymorphism might be a factor for higher HbF in chinese Hb E/β-thalassemia major patients. Objective To investigate the effects and side reaction of hydroxyurea on HbE/β-thalassemia patients,then explore the correlated factors between hydroxyurea with fetal hemoglobin and total hemoglobin.Methods HU are administrated to two HbE/β-thalassemia patients for one year.First dose is 15mg/kg.d,then to be added at the maximum 30mg/kg.d by steps.The blood routine,hemoglobin electrophoresis,fettrin,liver function, renal function,reticulocytes,and hepatolienal recorery were detected before administration and following 1M,2M,3M,6M,12M.Certainlyβ-thalassemia gene and Xmn I were also examined by polymorphism.Results After HU therapy,significant rise in HbF and total Hb level was shown,and hepatolienal volume was reduced remarkerable(liver↓150.05cm~3 and spleen↓137.18cm~3 in A patient) in MRI.However,there was no serious complication of HU which has displayed in the treatment.Besidely Xmn I +/—was screened out in these two patients.Conclusion The encouraging responses to HU therapy in HbE/β-thalassemia patients were concluded,Correlation between the response and the Xmn I polymorphism need further study to confirm.HU is well worth with the expectation of treatment in HbE/β-thalassemia patients in the future.