What You Need to Know About 5 Most Common Genetic ...

What You Need to Know About 5 Most Common Genetic Disorders · Down Syndrome · Thalassemia · Cystic Fibrosis · Tay-Sachs disease · Sickle Cell Anemia · Learn More. Skiptomaincontent WhatYouNeedtoKnowAbout5MostCommonGeneticDisordersViewallblogpostsunderArticles| ViewallblogpostsunderDoctorofNursingPractice Geneticdisorderscanbetheresultofgeneticabnormalitiessuchasgenemutationoradditionalchromosomes.Theeffectsofabnormalitiesinanindividual’sDNAwereonceentirelyunpredictable.However,modernmedicinehasproducedmethodsofidentifyingthepotentialhealthoutcomesofgeneticdisorders,asevidencedbymedicalresearchfromeducated,advanced-degreednursepractitionersandpracticingphysicians.Bycollectingthefollowingevidence-basedstatisticalobservations,theseprofessionalshaveidentifiedsomeofthecurrentbestpracticesfordetecting,treating,andpotentiallypreventingsomegeneticdisorders.DownSyndromeTypically,thenucleusofanindividualcellcontains23pairsofchromosomes,butDownsyndromeoccurswhenthe21stchromosomeiscopiedanextratimeinallorsomecells.Nursepractitionersandphysicianscommonlyperformdetailedprenatalscreeningtests,likebloodtests,thatdetectquantitiesofchromosomalmaterialandothersubstancesinamother’sblood.Thistypeoftestingcandetermine,withhighaccuracy,whetherornotachildwillbebornwithDownsyndrome.WhenapersonisdiagnosedwithDownsyndrome,theyarelikelytoexhibitvaryinglevelsofmildtoseverecognitivedelays.OthermarkersofDownsyndromeincludeahigherdispositionforcongenitalheartdefects,lowmuscletone,smallerphysicalstature,andanupwardslanttotheeyes.AccordingtotheCentersforDiseaseControlandPrevention(CDC),approximatelyoneinevery700babiesbornintheUSwillhaveDownsyndrome.Also,theolderamotherisatthetimeofbirth,themorelikelythechildistohaveDownsyndrome.[5]ThalassemiaThalassemiaisafamilyofhereditarygeneticconditionsthatlimitstheamountofhemoglobinanindividualcannaturallyproduce.Thisconditioninhibitsoxygenflowthroughoutthebody.Thereisa25percentchancethatchildrenwhoinherittheThalassemiagenefrombothparentswillbebornwithThalassemia.[7]PeoplewhoareespeciallylikelytobecarriersofthefaultygenethatisresponsibleforThalassemiaincludethoseofSoutheastAsian,Indian,Chinese,MiddleEastern,Mediterranean,andNorthernAfricandescent.WithanyformofThalassemiausuallycomessevereanemia,whichmayrequirespecializedcaresuchasregularbloodtransfusionsandchelationtherapy.CysticFibrosisCysticFibrosisisachronic,geneticconditionthatcausespatientstoproducethickandstickymucus,inhibitingtheirrespiratory,digestive,andreproductivesystems.LikeThalassemia,thediseaseiscommonlyinheritedata25percentratewhenbothparentshavetheCysticFibrosisgene.IntheUnitedStates,therearecloseto30,000peoplelivingwithCysticFibrosis,andtheyfrequentlydevelopgreaterhealthproblems.Forinstance,95percentofmaleCysticFibrosispatientsaresterile,andthemedianageofsurvivalforallpatientsis33.4years.[9]Educatednursepractitionerscanextendthetypicalpatient’ssurvivaltimebyofferingeffectivecarestrategiesthatfeaturephysicaltherapy,aswellasdietaryandmedicalsupplementation.Tay-SachsdiseaseThegeneticconditionknownasTay-Sachsiscarriedbyaboutoneinevery27Jewishpeople,andbyapproximatelyoneofevery250membersofthegeneralpopulation.TheconditioniscausedbyachromosomaldefectsimilartothatofDownsyndrome.UnlikeDownsyndrome,however,Tay-Sachsresultsfromadefectfoundinchromosome#15,andthedisorderisirreversiblyfatalwhenfoundinchildren.[10]Tay-Sachsdiseasegraduallydestroysthenervoussystem,frequentlyresultingindeathbyagefive.AdultscanalsobediagnosedwithLate-OnsetTay-Sachsdisease,whichcausesamanageablelevelofdiminishedcognitiveability.WhiledetectingTay-SachscanbeaccomplishedbyusingenzymeassaymethodsorDNAstudies,anoptiondoesexisttopreventtheriskentirely.Assistedreproductivetherapytechniquescanbeconductedthattestin-vitroembryosforTay-Sachsbeforeimplantingthemintothemother.Thiscanallowonlyhealthyembryostobeselected.SickleCellAnemiaSickleCellDiseaseisalifelonggeneticconditionthatmaybeinheritedwhentheSickleCelltraitispasseddownbybothparentstotheirchildren.Thetraitismorecommonlyinheritedbypeoplewithasub-Saharan,Indian,orMediterraneanheritage.SickleCellDiseasecausesredbloodcellstochangefromtheirusualdonutshapetoasickleshape.Thiscausesthecellstoclumptogetherandbecomecaughtinbloodvessels,triggeringseverepainandseriouscomplicationssuchasinfections,organdamage,andacuterespiratorysyndrome.AccordingtotheCDC,SickleCellDiseaseaffectsapproximately100,000Americans.Additionally,oneinevery365African-AmericanbabiesisbornwithSickleCellDisease.[11]Incontrast,oneinevery16,300Hispanic-Americanbabiesisdiagnosedwiththedisease.ModernadvancementsinmedicinehavelimitedthemortalityrateofSickleCellDiseasebyprovidingagreatervarietyofvaccinesandtreatmentoptions.Givingbirthtoachildwithageneticconditioncanbeconcerningforparents,buteffectiveongoingcarefromtrainednursingprofessionalscansignificantlyeasetheimpact.ThroughaDoctorofScienceinNursingprogram,nursepractitionerscanexpandtheirknowledgeandpracticalabilitytoconfrontandmitigatethesedisorders.Byaddingnewexpertiseintheleading-edgedetection,prevention,andtreatmentofgeneticdisorders,advanced-degreednursescanplayakeyroleinhelpingparents,children,adultsufferers,andsocietyatlarge.LearnMoreHealthcareisadynamicandever-evolvingfield,andmoreisnowexpectedofnurseleaders.Infact,theAmericanAssociationofCollegesofNursing(AACN)hascalledforadoctoralleveleducationtobecometherequirementforadvancedpracticenursing.EarninganonlineDoctorofNursingPractice(DNP)putsMSN-credentialednurseslikeyouattheforefrontoftheindustry—preparedforleadership,nurseeducation,patientcare,andtoshapefuturepoliciesandproceduresinhealthcare.RecommendedHowFamilyNursePractitionersWithaDNPDegreeEmpowerPatientsandFamiliesSources1.NIH–Howaregeneticconditionstreatedormanaged? 2.NIH–Whatinformationaboutageneticconditioncanstatisticsprovide? 3.NIH–GeneticDisorders 4.NationalHumanGenomeResearchInstitute 5.NationalDownSyndromeSociety 6.CentersforDiseaseControlandPrevention–DownSyndrome 7.TheDemographicsofThalassemia 8.NHS.uk 9.CysticFibrosisNewsToday 10.NationalHumanGenomeResearchInstitute–LearningAboutTay-SachsDisease 11.CentersforDiseaseControlandPrevention–SickleCellDisease 12.CentersforDiseaseControlandPrevention–IncidenceofSickleCellTraitintheUS LearnMoreAboutOurOnlinePrograms GetMoreInfoPre-Qualify Let’smoveforward Whereveryouareinyourcareerandwhereveryouwanttobe,looktoRegisforadirectpath,nomatteryoureducationlevel.Fillouttheformtolearnmoreaboutourprogramoptionsorgetstartedonyourapplicationtoday. 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