Thalassemia的简介及其外送流程

•Thalassemia中文為海洋性貧血,thalas-----Seaemia------anemia•以前稱為地中海型貧血,自86年四月衛生署統一稱海洋性貧血•thalassemia是一種自體隱性遺傳的血液疾病而得名,它是因為Hb中的globin的合成缺陷,使RBC變小導致貧血,•是台灣地區常見的遺傳之一,大約有5%~8%的人(110萬~170萬)為此項疾病之帶因者-thalassemia帶因率是5~6%-thalassemia帶因率是1~2%•Thalassemia主要分佈在熱帶及亞熱帶地區,發生地區多屬瘧疾疫區,分布於地中海附近,阿拉伯半島,印度,大陸,東南亞,中國長江以南,台灣.•HbA:22•HbF:22•HbA2:22•HbH:4•HbBart’s:4•正常人的Hb的範圍HbA:95%,HbF:2%•HbA2:15%-3%Thalassemia可分為-thalassemia及-thalassemia(1)-thalassemia由於-gene的delection或mutation而使得-globin合成量減少而使Hb的量下降.常分佈Africa,theMiddleEast,India,SoutheastAsia,southernChina,and地中海區域thalassemiaHemoglobinVariantsPhenotypeGenotypeClinicalFeaturesNewBornAfterFirstYearHytropsfetalis(--/--)FetalorneonatalHbBart’s(80-90%)-deathwithserveHbH,HbportlandanemiaHbHdisease(--/-)ChronichemolyticHbBart’s(20-40%)HbH(5-40%)(--/T)anemia(ThaassemiaHbBart’s(--/cs)intermedia)HbCS(T/T)ThalassemiaMinor(--/)Littleoranemia,HbBart’s(2-10%)None(-/-)decreasedMCV,MCH(-/T)Silentcarrier(-/)NoclinicalorHbBart’s(0-2%)NoneHematologicabnormality(cs),-geneforHbConstantSpring(CS):(T),Nondeletion-thalassemiagene(2)-thalassemia•由於-gene的delection或mutation而,使得globin合成量減少而使Hb的量下降•分佈於Italians,Greeks,ArabianPeninsula,Iran,Africa,SoutheastAsia及SouthernChinathalassemiaSyndromeGenotypeHemoglobinPatternClinialFeaturesHomozygousstatesthalassemia/Thalassemiamaior:HbA,HbForThalassemiaintermediavariableHbA2thalassemia?/?Thalassemiamajor0HbA,varibleHbA2residualHbFthalassemia?/?Thalassemiaintermedia0HbAandHbA2,100%HbFHbLeporeLepore/LeporeThalassemiamajor0HbA,HbA2:75%HbF:25%HbLeporeHeterozygousStatesthalassemia+/ThalassemiaminorHbA2,SlightHbFthalassemia?/ThalassemiaminorHbA2,SlightHbFthalassemia?/Thalassemiaminor5-20%HbFHbLeporeHbLepore/ThalassemiaminorHbF,HbA2,5-15%HbLeporeNORMALHbA(α2β2)Reducedβ-globinsynthesiswithrelativeexcessofα-globinβ-THALASSEMIAInsolubleα-blobinaggregateHbAAbnormalerythroblastMosterythroblastsdieinbonemarrow(Ineffectiveerythropoiests)DietaryironSystemicIronoverload(Secondaryhemochromatosis)Fewabnormalredcellsleaveα-globinaggregateNormalHypochromicredcellDestructionofaggregate-containingredcellsinsplleenTissueanoxiaErthropoietinincreaseMarrowexpansionSkeletaldeformitiesBloodtransfusionsReduce(1)MCV,RDW(2)RBC(3)smear:Ansinocytosis,Poikilocytosistargetcells,Basophilicstippl-ing,NRBC(4)SerumIron,()(5)Ferritin»-ThalassemiamajorsmearIDA(IronDeficiencyAnemia)ThalassemiaSerumironN,TIBCN%staturationNferritinN,HbA2N,N,HbFNN,RDWMCVChronicInflammatoryProcessPresent?VitaminB12low?IronStatus:Fe/TIBC,FerritinironDeficiencyRBCCountHighorHighNormal?AnemiaofChronicDiseaseLowIron,TIBC,LowNormalSturation?RenalFailurePresent?VitaminB12DificiencyFolateLow?NormalLowFe,ferritin,highTIBCNormalYesNoHighYesNoHemoglobinA2,FEvaluateforleadpoisoningYesNoEPOdeficiencystartEPOtrialBonemarrowexaminationtofurtherevaluateYesNofolateDeficiencyPancytopeniapresent?NoYesYesNoβ-ThalassemiaminorProbableα-Thalassemia-dotamilystudiesHighNormalBonemarrowbiopsytoruleoutmyelobysplasiaEvidenceofliverdiseaseoralcoholabuse?NoYesNoLow(1)地中海貧血診斷(血液)補助條件:受檢者須要夫妻MCV均小於80fl(2)地中海貧血診斷(血液)非補助:(1)確認是否符合補助案(2)確認病人是否繳交費用,列印檢驗單(3)確認是否填好優生健康檢查個案記錄聯,及檢體寄送單,即同意書.優生健康檢查記錄聯是否簽章(4)夫妻各抽血10ml,3mlSodiumcirate,7mlEDTA管(5)交由編檢體處理(6)若是夜班收到可以把檢體冰在4ºC冰箱,交由白班處理孕婦海洋性貧血檢體寄送單姓名：出生日期：年月日病歷號碼：抽血日期：年月日身份證字號：最後一次月經：年月日GPSAAARBCHbHctMCVMCH配偶姓名：RBCHbHctMCVMCH身份證字號：出生日期：年月日1.曾生過水腫胎兒：□否□是2.曾生過需要定期輸血的小孩：□否□是（個月開始輸血）3.如失道有原住民之血緣請填寫族別：夫妻其他情形：聯絡人：醫院：電話：地址：※此檢體寄送單、同意書及每人各一份優生健康檢查個案記錄聯請隨檢體送達。※優生健康檢查個案記錄聯請向衛生所或衛生局第五課索取。※優生健康檢查個案記錄聯之介紹人請貴院填寫之。