carrier testing home ksu faculty member 血友病携带者检测家居堪萨斯州立大学教员课件

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1、AnIntroductiontoHaemophiliaandrelatedbleedingdisordersNORMALCLOTTINGResponsetovessleinjury1.Vasoconstrictiontoreducebloodflow2.Plateletplugformation(vonwillebrandfactorbindsdamagedvessleandplatelets)3.Activationofclottingcascadewithgenerationoffibrinclotformation4.Fibrinl

2、ysis(clotbreakdown)Normallytheingredients,calledfactors,actlikearowofdominoestopplingagainsteachothertocreateachainreaction.Ifoneofthefactorsismissingthischainreactioncannotproceed.CLOTTINGCASCADECLOTTINGCASCADECLOTTINGCASCADE–simplifiedversionTissuefactor:FVIIaFXFXaFII(p

3、rothrombin)FIIa(thrombin)FVaiscofactorFibrinogenFibrinCrosslinkedfibrinFXIIIaFIXFIXaFVIIIaiscofactorWHATISHAEMOPHILIA?Haemophilia:groupofinheritedblooddisordersinwhichthereisalife-longdefectinclotting.HAEMOPHILIAAshortageofclottingfactorVIII(HaemophiliaA)orfactorIX(Haemop

4、hiliaB)haltsthechainreactionwiththeconsequencethataclotdoesnotform.HaemophiliaAandB1in10,000ofthepopulationhastheconditioncalledhaemophiliaA.ClottingfactorVIIIlacksactivity.AnotheroftheclottingingredientsiscalledfactorIX.TheactivityofthisfactorisdeficientinhaemophiliaB,al

5、soknownasChristmasdisease.HaemophiliaAisapproximatelyfivetimesmorecommonthanhaemophiliaB.HaemophiliaAandBBothtypeshaemophiliasharethesamesymptomsandinheritancepattern-onlybloodtestscandifferentiatebetweenthetwo.Importanttoknowwhichfactorisdefectivesothatthecorrecttreatmen

6、tcanbegiven.ExceptinveryrarecasesbothhaemophiliaAandhaemophiliaBaffectonlymales.320158DISEASESEVERITY50-200%5-50%2-5%<1%DegreesofSeverityNORMALRANGE50–150%ClottingFactorNormalbloodcoagulationMILDHAEMOPHILIA5-50%ClottingFactorBleedingproblemsusuallyassociatedtoothextractio

7、ns,surgery,severeaccident.OftennotdiagnoseduntillaterinlifeMODERATEHAEMOPHILIA2-5%ClottingFactorBleedingusuallyassociatedwithinjury–knock/deepcut.CanpresentlikeseverehaemophiliaSEVEREHAEMOPHILIA<1%ClottingFactorBleedingisfrequentandoftenspontaneousintojoints,muscles,andan

8、ysiteincludingbrain.Usuallydiagnosedinfirstyearoflife.HaemarthrosisinseverehaemophiliaThighmuscl