JAK2 V617F: A Single Mutation in the Myeloproliferative ... | JAK2 V617F mutation

The JAK2 V617F mutation in MPDs can be detected by a variety of methods. The simplest method is to isolate DNA from whole blood leukocytes and use PCR-direct sequencing. However, since the mutation is acquired and restricted to the myeloid lineage this method has a sensitivity of between 20 to 30%.NCBISkiptomaincontentSkiptonavigationResourcesHowToAboutNCBIAccesskeysMyNCBISignintoNCBISignOutJournalListUlsterMedJv.75(2);2006MayPMC1891745UlsterMedJ.2006May;75(2):112–119.PMCID:PMC1891745PMID:16755940JAK2V617F:ASingleMutationintheMyeloproliferativeGroupofDisordersDonalMcLornan,MelaniePercy,andMaryFrancesMcMullinAuthorinformationArticlenotesCopyrightandLicenseinformationDisclaimerDepartmentofHaematology,Queen'sUniversityBelfast,UFloor,BelfastCityHospital,LisburnRoad,Belfast,BT97AB,UKCorrespondencetoDrMcMullin.Email:[email protected]©TheUlsterMedicalSociety,2006ThisarticlehasbeencitedbyotherarticlesinPMC.Themyeloproliferativedisorders(MPD)areagroupofhaematologicalconditionswherethereisaprimarydisorderatthelevelofthemulti-potenthaematopoieticstemcellleadingtoincreasedproductioninoneormorebloodcelltypes.Thethreemaindisordersinthegrouparepolycythaemiavera(PV),essentialthrombocythaemia(ET)andidiopathicmyelofibrosis(IMF).PVischaracterisedbyanincreaseinredcells,whitecellsandplateletsandclinicallyaplethoricappearance,itchandsplenomegaly.Thediseasecanbecomplicatedbythromboembolicphenomenaandhaemorrhageandintheendstagescanprogresstomyelofibrosisandacuteleukaemia.ETischaracterisedbyanincreasedplateletcount.Clinicallyitisfrequentlyasymptomaticbutthethromboemboliceventsmayleadtodiseasedetection.Thereisasmallpropensitytoprogresstomyelofibrosisandacuteleukaemiawhichmaybeinfluencedbythetreatmentmodalitiesused.IMFisdefinedbyaleukoerythroblasticbloodpicture,splenomegalyandbonemarrowfibrosis.Thebloodpictureincludesanaemia,thrombocythaemiaorthrombocytopeniaandvariablewhitecellcounts.Thediseasefrequentlyprogressesinexorablytotransfusiondependentanaemia,symptomat


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