镰刀形红血球贫血症

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1、GeneticDiseases(1)Sickle-cellanaemia鐮刀形紅血球貧血症IntroductionofSickle-cellanaemiaItisageneticdiseasesthepatient’sredbloodcellsarerigid&sickleinshapecommondisaesesinAfricantwocopiesofthehaemoglobingeneineverycellofourbodyarecessiveconditionbecausetheyhavetwocopiesofthesicklehaemoglobingenetohavethed

2、isorder.ProblemsofSickle-cellanaemiaLessoxygenarebecarriedthesesicklecellareweakandhaveshorterlifespanleadtosmallbloodvesselsgettingblockedleadtoseverepainanddamagetoorganssuchasliver,kidney,lungs,heartandspleen.Deathcanbearesult.ExplainationofblockingbloodvesselsTheGeneticCombination(1)SickleC

3、ellTraitandUnaffectednoneofthechildrenwillhavesicklecellanaemia.aoneintwo(50%)chancethatanygivenchildwillgetonecopyoftheHbSgeneandthereforehavethesicklecelltrait.TheGeneticCombination(2)SickleCellTraitandSickleCellTrait(25%)chancethatanygivenchildcouldbebornwithsicklecellanaemia.(25%)chancethata

4、nygivenchildcouldbecompletelyunaffectedTheGeneticCombination(3)SickleCellTraitandSickleCellAnaemiaaoneintwo(50%)chancethatanygivenchildwillgetsicklecelltraitandaoneintwochancethatanygivenchildwillgetsicklecellanaemia.TheGeneticCombination(4)SickleCellAnaemiaandUnaffectedallthechildrenwillhavesic

5、klecelltrait.Nonewillhavesicklecellanaemia.GeneticDiseases(2)Haemophilia血友病IntroductionofHaemophiliaalifelonginheritedgeneticdiseaseHaemophilia(Greek)=“loveofblood”Hemorrhaephilia=“Theloveofhemorrhage”(hemorrhage=bleeding)anessentialclottingfactoriseitherpartlyorcompletelymissingcausesapatientto

6、bleedforlongerthannormal.ThreestypesofHaemophiliaHaemophiliaA(80%)lacksclottingfactor8HaemophiliaB(20%)lacksclottingfactor9HaemophiliaClacksclottingfactor11WhyHaemophiliapatientbleedingseriouslyForbloodclotting,13clottingfactors(protein),mustbeallpresent,bloodcan’tclot,evenlackofone.LevelsofHaem

7、ophiliaFirstlevelofHaemophilia5%~30%ofclottingfactorsinbloodonlygetproblemwhenseriousinjuryorduringoperation.(Cont’d)LevelsofHaemophiliaSecondlevelofHaemophilia1%~5%clottingfactorsinbloodregularbleeding(spontaneous)Thirdleve