Sickle Cell Anemia

SickleCell Anemia

SickleCell Anemia (SCA) is a one of mostcommongenetic disorder involving the blood system. It is an inherited blooddisorder,wheretheerythrocytes donot assumethenormalroundshapebut assume a sickle-like shape.Therefore,SCA crops as a resultof thepresenceof themutated formof hemoglobin. IntheUS,thehomozygous HbS diseaseis the most common type of Sickle cell Anemia.Thisdisorderaffectsindividualsof African–American originandthoseof Mediterranean ancestry(USDepartment of Health and Human Services,DOH 1). Itis an autosomal recessivedisorder,whosemorbidity, organsinvolved,andthedegreeof anemia variesconsiderably from individualto individual.Individualswith thisdisorderlookandfeelnormalhencetheinabilityto detectthedisorderat earlydevelopmentalyears.However,peoplewith sickle celloftenbecomeillwith littlewarning,hencetheneedto testforsickle cellduring earlyyearsof development(Medscape1).

Thesickle cellanemia is inheritedthrough genes, since thegenes containcoded informationthat determinesgeneticcompositionof a newborn.Genes controlqualitiessuchas thecolorof theeyes,typeof bloodandthetypeof hemoglobin andindividualwill have.Assuch,thediseaseis transferredfrom parentsto newborns, since newborns share the genes of their parents(Medscape1).Among possibilitieswhenindividualinheritthedisorderfrom their parentinclude situations wherebothof theparentshavetraitsof thesickle cellAnemia (AS). Theotherpossibilityis whenone of theparentshas thesickle celldisorder(SS), andtheotherhas traitsof thedisorder(AS). Traitsof thedisorderareinheritedwhenone parenthas traitsof thedisorder(AS) orhas thedisorder(SS), andtheotheris perfectlyhealthy.Assuch,thedisorderis neither viral nor contagious (Medscape1).

Asstated,sickle celldisorderaffectsthehaemoglobin partof thered bloodcells.Thedisordermakesthered bloodcellsassumea sickle shape,ratherthan thenormalroundshapewhenhaemoglobin givesoff its oxygen (Medscape1).Sickle-shaped red bloodcellsare hard,rigidandoftengetstuckandblockthesmallbloodvessels.Blockingthesmallbloodvesselsconsequentially slowsorstopsbloodcirculationthroughout thebody,which leadsto fataloutcomes.Pluggedup bloodvesselstranslatesto damagedbodypartsandexcessivepainas bloodpushesthrough theblockedbloodvessels.Asickle cellcrisis,a situationwherebythecirculationof bloodsuddenlystopsorslowsowingto vessel clogging, is fatal,sometimesleadingto death(DOH 1).

Amongtheknownwaysof treatingSCAincludebonemarrowtransplant(BMT), Hydroxyurea andbloodtransfusion.BMT,alsoreferredto as celltransplantinvolveschangingpatients’bonemarrow,replacing it with ahealthymarrowfrom thedonor(DOH1). Thebonemarrowis thesoftfattytissueinside thecentrethebone,responsibleformanufacturingthebloodcells(Medscape1).Thedonor’sbonemarrowmust matchthatof thepatientto ensuresurvivalhencethemostappropriatedonorforbonemarrowshould be theimmediaterelativeof thepatient.BMTismostappropriateforyoungchildrenwith severeSCD, whoseorganshaveminimaldamagefrom disorders(DOH 1). After theBMT, therecipientis givenstrongmedicineto destroythechildownbonemarrow.Ifthetransplantis successful,thereceivedbonemarrowstartsmakingnormalbloodcells,eliminatingthedisorderfrom thepatient.Thepatientno longerhavethesickle-shaped red bloodcells,hencenosymptomsof thedisorder.However,BMTs are fewersince there is a challengeof decidingtheappropriatepatientsto receivetheBMT andthefewerchancesof matchingbonemarrow,evenamong siblings. Additionally, theprocessinvolvesmajorcomplications,which may be fatalto both thedonorandtherecipient.Doctorsare workingon methodsof identifyingpatientsmoresusceptibleto seriouscomplicationsof SCA suchas stroke,to determinethemostappropriatepatientsto undergoBMT (Medscape1).

Thesecondmethodof treatingSCA is Hydroxyurea, a chemotherapy medicinethat effectivelyincreasestheamountof fetal haemoglobin in theblood.Fetal haemoglobin isproducedbefore birthandprotectsthered bloodcellsfrom assumingthesickle shape.Hydroxyurea has beenextensivelyusedto treatsickle cellanemia among adultsandchildrenthoughitisnotedthatthetreatmentdoesnot increasehaemoglobin levels in allpatients.Toincreaseefficiency,themedicationhas to be takeneveryday,andfora lengthof time.However,there is no clear way to identify thelong-term impactsof usingHydroxyurea (Medscape1).In theshortterm,hydroxyurea is knownto causesoresin themouth,changesin nailsandskinsurfaceandlowerscountsof white bloodcellsandplatelets. Itispostulatedthatlong-term useof hydroxyurea may affectthedevelopmentof thefetus,henceshould not be takenby pregnantmothers(DOH 1).

Bloodtransfusionshavealsobeeneffectivelyusedin treatingsickle cell,wherepatientsare givenbloodwith normalred-blood cells.However,thismethodof treatinganemia doesnot eliminatethesickle-shaped bloodcellsitonlygiveswell-formed bloodcellsto thepatientto enablenormalbloodprocesses.Forefficiency,bloodtransfusionsare conductedafter specifiedperiodsandshould onlybe performedwhenitis absolutelynecessary.Over pastdecades, doctorshavelearnta greatdealpertainingsickle cellanemia, includingcauses,effectsandtreatmentmethods.However,theavailabletreatmentmethodsare risky,involvingvarioustreatmentcomplexities (DOH 1). Toresolvethis,doctorsare puttingmoreeffortsto understandSCA, includingalternative treatmentmethods.Moreresearchis beingundertakento allowexperiencedpainresearchers to learnthebiologyof paincausedby SCA, therebydevelopeffectivepainrelievingmedicines.Thestudyinvolvestheexperimentto discoverwhetherhealthyadultsperceivepaindifferentlyfrom patientswith SCA. Additionally, moreresourcesare investedin determiningtheimpactsof SCA on brainfunctionality, to improvetreatmentof brainfunctionality among SCA patients(Medscape1).Otherfutureresearchon SCA includesthestudyto establishthegeneticfactorsaffectingsymptomsof sickle celldiseaseandregulationof haemoglobin productionamong SCA patients.Otherfuturetreatmentmethodswill includeradiography, MRI, Ct scanning among othermoderntreatmentprocedures(Medscape1).

Asaforementioned, SCA is a geneticdisorderthat leadsto abnormalformationof thebloodcells.Thered bloodcellsassumethesickle shape,ratherthan thenormalroundshape,becomemorehardyandrigid.Itis thisrigidness that makesthem clogsmallbloodvessels,leadingto painandotherfatalconsequences.Thedisorderisonlyinheritedwhenbothparentssufferfrom thedisorder,orwhenone parentssufferfrom thedisorder,andtheotherhas traitsof SCA. Traitsof thedisorderareinheritedwhenitis onlyone parentis sufferingfrom thedisorder.Bonemarrowtransplant,bloodtransfusionandhydroxyurea are among thesuccessfulmethodsusedto treatSCA. Morestudieson thedisordersuchas perceptionof painamong patientswill helpdoctorsdevelopmoreappropriatewaysof treatingthedisorder.

Workscited

Medscape.SickleCell Anemia. 2015. Accessed on Jan 3 2015, Retrieved fromhttp://emedicine.medscape.com/article/205926-overview

NationalHeart, Lung, and Blood Institute. Disease and conditions index.Sickle cell anemia: who is at risk? Bethesda, MD: US Department ofHealth and Human Services, National Institutes of Health, NationalHeart, Lung, and Blood Institute 2009. Accessed on Jan 3 2015,Retrieved fromhttp://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhoIsAtRisk.html

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