Nghiên Cứu Ứng Dụng Các Kỹ Thuật Tách Hợp Để Sàng Lọc Bệnh Beta Thalassemia Ở Cộng Đồng.docx

BAOCAO , TQUU NGHIEN AA Tendétai NGHIENCUUUNGDUNGCACKYTHU§TTHIC HHCIPDESANGLOCBENH BETATHALASSEMIA CONGD O N G Chitn h i ( n i d é H i : TSD irongB:iTrac CnquanchfideHi: Bé nhv i ( n NhiTrung iiong M:isfi: 4424/QD-BYT HANOI—2007 BAOCAOITQUANGHIENCNDETAICNBO Tendetai NGHIENCLfUL! NGDUNGCACKYTHU§TTHICHHCJPDESAN GLOCBENH BETATHALASSEMIA CONGDONG ChiinhiémdéHi:Coq TSDuongBitTrac uancliudétai: C:ipq B(nhv i ( n N h i T r u n g u o n g uanly: 4424JQD-BYT Thotgianthuchicn 10-2003d e n 10—2006 Tongkinhph ithirchiénd e lai: I bt0.000.000d TrongdfikinhphiSNKH: 180.000.000d HANQl—2007 I.Téndetai: “Nghiénemuftiigdungc.iek l liuatt h i c h hppdésanglocb(nhb e t a t l i a l a s s e i n i a ‹i c‹ingilong” 2.Chfi nhiem‹t tui: TS.D‹r‹mgBETrVc Danhsiichnhiingnguoithichienchinh: 1.TS.DuongBaTr‹ic 3.TS.BiiiV‹inVien 4.BS.TaTh]T h u H e a K T V L \ T h i Tiiyét1 \ i n h 7.Théigianthirchien: 10 -2003 den1 -2006 DCIP Dicloi‘opheno1Indophenol Hb Hcmop=lobine HC (TTTBHC) (Thétichtrungbinhhongcau) MCH(HbT I\4eanCellHemoglobine BHC)MCH C I\leanCel l Heirioglobine Cin cen trat io n HPLC HighPressureLiquid C h r o m a t o g r a p h y RDW ReelCellDitri bution ofWidth SBTTHC Stlcbénthamth:iuhfingciiu PhiinI.Tongq nant a r l i é ti 1.2 Qtr.iirinlitonglicipclamorBcta-Globin 1.3 Cosotlitiu)encurtBcta-Tlialasseinia I 5.Bretthienhtiyéthociathanliplianhuyétsacto 1.6 Chind o ‹ i i B e l a —Tlialassemia 11 1.7 DiciitriBeta—T l i a l a s s e m i a 12 I.8.TinhliinlinghieiicifuveBeta-Thalassemiatrenthegioi 14 1.9.TinhhinhiighienciiiiiéBeta-ThalassemiaoVi(tNam 16 20 20 2.2.Phnomph•a pngliin cim 20 24 26 Phan4.Banlna'n 4.1.Bieuhien1•inisangv‹ilniyéthoccuangucligenBeta- 39 4.I.1.Biéuhienhujéthoc 4.1.2.Sfrcbént l i m o n g caa 42 41 4.1.4.Dacdiémla'mhangiahuyéthocciianguciimanggenHbE43iasa ngl oc H b E 4.2.KétqiiaringdungsanglocBeta-Thalassemiaoc6ngdong Kétl u a'n Kiénngh) Taililutliainkli‹io 45 48 18 Bang1 1.T‹anxmatBeta-Thalasseniiaé i inotsod°antoc 26 Bang3.2.2Cfcthongsolifin_ciiubcnlinhanEJBeta-Thalassemia 28 29 Bang3 Cfcthong.sohongc a n np•ucitmangH b E 30 32 Bang3.3.2Giatrisanglocciiathetichtrungbinhhfingc5u7.5fl Béng3.3.3Ké1quasangloctlieoI\4CV75fl Bang3.3.4Gi ti’isanglpcciiatheticliti‘ungbinhhongcau78f1 35 36 36 37 37 Trang DATVANDE • QThalassemial tim t h i c h imgd i t r u y e n c f i a donghong c a u , co biluhi(ngi:in ntongh9pchuoiQglobin.Thena(ngciiab(nhcébiéuhi(nthiéuin:iutanin:iu,I:ichto,biendangxvong,chainp h:ittriénv:inhiéubienchiingnJngné.Ne'ukhfingd ir9cdiéut r | dungthib ( n h n h i b | b(nht h e nangkhf›ngsongdwqc dentuoitru6ngthiinh(20),(21) Dayl a b(nh1 y ditruyéng e n c o songu’‹i’imacca onhatolo:iingu’cii.Nht ingnam80ciiathekytruéc,TochircYtéthegioi(TCYTTG)uoctinhco400tri(ungiroitr énthegiciimanggenb‹:nhHh,trongdo§-Thalassemialaphobiennhfit(20) B(nhphanbor9ngratérnhiéuch:iuluc,tirchau PhidenviingD|aTrung hai,NamA,NamTrungQuocv:iDongnamA(19),(23),(25) DongnarnAl:ikhuvqc§Tha1assemialuuh:inhrongrat,cotansuiitcaoiinhiéunvéc.v u n g néycfinfun h;inhmotbenhHbb:itthng1:iHbE,cotinhchét1Q’Thalassemia.Kéth9pvoisirfunha nhciiaoThalassemiắin’ucdgcao,tarnhiéunwocDongNamA.conhiéuhoi chimgtainphong phucuacacb(nhHb— trongdohaithebenhuangthu6riggapnhatla§-ThalassemiakéthppvéiHbEvaQThalassemiathe’na)ng(19) Nuéctaciinglanoi§ThalassemiavéHbEcotansuatcao.Nhfmgnghie“ n cliiidw9ctiénh:inhtronghon20n6mquachoth:iybenhhi(ndi(n‹ikhapcéc