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Exam (elaborations)

HEMATOLOGY: CHAPTER 37 & 38 - RODAKS 6TH EDITION QUESTIONS AND ANSWERS

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HEMATOLOGY: CHAPTER 37 & 38 - RODAKS 6TH EDITION QUESTIONS AND ANSWERS

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HEMATOLOGY: CHAPTER 37 & 38 -
RODAKS 6TH EDITION QUESTIONS AND
ANSWERS

Glanzmannmthrombastheniam-mans-
Describedmasmambleedingmdisordermassociatedmwithmabnormalminmvitromclot
mretractionmandmnormalmplateletmcount

-
mNormalmpltmcount,mnormalmpltmmorphology,mlackmofmpltmaggregation,mredu
cedmclotmformation

Bernard-Souliermsyndromem-mans-
ismamraremdisordermofmplateletmadhesionmthatmusuallymmanifestsminminfancy
mormchildhoodmwithmhemorrhagemcharacteristicmofmdefectivemplateletmfunction

-mNormalmaggregation,mepinephrine,mcollagen,mandmarachidonicmacid
-
mDomnotmrespondmtomristocetinmandmhavemdiminishedmresponsemtomthrombi
n

DensemGranulemDeficienciesm-mans-
Thesemsyndromesmaremclassifiedmundermthemgroupmofm?

-mHermansky-Pudlakmsyndrome
-mChediak-Higashimsyndrome
-mWiskott-Aldrichmsyndrome
-mThrombocytopenia-absentmradiusm(TAR)msyndrome

a-GranulemDeficiencesm-mans-
Thesemsyndromemismclassifiedmundermthemgroupmof?

-mGraymplateletmsyndrome

Chediak-Higashimsyndromem-mans--
mRaremautosomalmrecessivemdisordermcharacterizedmbympartialmoculocutaneou
smalbinism,mfrequentmpyogenicmbacterialminfections,mgiantmlysosomalmgranules
minmcellsmofmhematologicmandmnonhematologicmorigin

Wiskott-Aldrichmsyndromem-mans-RaremX-
linkedmdiseasemcausedmbymmutationsminmthemWASmgenemonmthemshortmar

, mmofmthemXmchromosomemXp11.23mthatmencodesmformam502-
aminoacidmprotein

GraymPlateletmSyndromem-mans-
Plateletsmfrommthesempatientsmcontainmabsentmormmarkedlymreducedma-
granulemproteinsmincludingmPF4,mvWF,mfibronectin,mandmfactormV

Themmostmconsistentmlaboratorymabnormalitymhasmbeenmimpairmentminmthrom
bin-mediatedmaggregationmandmsecretion

150,000mtom450,000/uLm-mans-Normalmplateletmcount:

Thrombocytopeniam-mans-
ismthemmostmcommonmcausemofmclinicallymimportantmbleeding

Petechiaem-mans-
aremsmallmpinpointmhemorrhagesmaboutm1mmmminmdiameter

Ecchymosesm-mans--marem1mcmmormlargermandmusuallymirregularminmshape

-mlaymterm:mbruise

May-HegglinmAnomalym-mans-
autosomalmdominantmtraitmdisordermwheremneutrophilsmhavemblue-
stainingminclusionsmthatmresemblemDohlembodies;mthrombocytopeniamismalsom
presentmwithmgiantmabnormalmplatelets

MYH9m-mans-UndermMay-
HegglinmAnomaly,mtheremismammutationminmwhatmgene?

TARmSyndromem-mans-
Raremautosomalmrecessivemdisordermcharacterizedmbymseveremneonatalmthrom
bocytopeniamandmmutationminmthemRBM8Amgene

FanconimAnemiam-mans-
Associatedmwithmthrombocytopeniamandmothermabnormalitiesmandmaremmostly
mduemtommutationsminmonemofmthem3mgenes,mFANCA,mFANCC,mFANCG

NeonatalmThrombocytopeniam-mans-Plateletmcountmofm<150,000/
mLmandmismpresentminm1-5%mofminfantsmatmbirth

AcutemITPm-mans-
ismprimarilymamdisordermofmchildren,malthoughmamsimilarmconditionmismseen
moccasionallyminmadultsmandmismcharacterizedmbymabruptmonsetmofmbruising,
mpetechiae,mandmmucosalmbleeding

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