Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies PDF
Preview Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies
Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies Edited by Stephan Lobitz, Jacques Elion, Raffaella Colombatti and Elena Cela Printed Edition of the Special Issue Published in International Journal of Neonatal Screening www.mdpi.com/journal/ijns Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies SpecialIssueEditors StephanLobitz JacquesElion RaffaellaColombatti ElenaCela MDPI•Basel•Beijing•Wuhan•Barcelona•Belgrade Special Issue Editors Stephan Lobitz Jacques Elion Gemeinschaftsklinikum Mittelrhein gGmbH Universite´ Paris Diderot-USPC Germany France Raffaella Colombatti Elena Cela Universita` di Padova Universidad Complutense de Madrid Italy Spain Editorial Office MDPI St. Alban-Anlage 66 4052 Basel, Switzerland This is a reprint of articles from the Special Issue published online in the open access journal InternationalJournalofNeonatalScreening (ISSN 2409-515X) from 2018 to 2019 (available at: https: //www.mdpi.com/journal/IJNS/specialissues/hemoglobinopathies) Forcitationpurposes,citeeacharticleindependentlyasindicatedonthearticlepageonlineandas indicatedbelow: LastName,A.A.; LastName,B.B.; LastName,C.C.ArticleTitle. JournalNameYear,ArticleNumber, PageRange. ISBN978-3-03921-614-7(Pbk) ISBN978-3-03921-615-4(PDF) (cid:2)c 2019bytheauthors. ArticlesinthisbookareOpenAccessanddistributedundertheCreative Commons Attribution (CC BY) license, which allows users to download, copy and build upon publishedarticles,aslongastheauthorandpublisherareproperlycredited,whichensuresmaximum disseminationandawiderimpactofourpublications. ThebookasawholeisdistributedbyMDPIunderthetermsandconditionsoftheCreativeCommons licenseCCBY-NC-ND. Contents AbouttheSpecialIssueEditors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . vii RaffaellaColombatti,ElenaCela,JacquesElionandStephanLobitz Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and otherHaemoglobinopathies” Reprintedfrom:Int.J.NeonatalScreen.2019,5,36,doi:10.3390/ijns5040036 . . . . . . . . . . . . . 1 J.GerardLoeber EuropeanUnionShouldActivelyStimulateandHarmoniseNeonatalScreeningInitiatives Reprintedfrom:Int.J.NeonatalScreen.2018,4,32,doi:10.3390/ijns4040032 . . . . . . . . . . . . . 3 Baba P.D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment Reprintedfrom:Int.J.NeonatalScreen.2019,5,20,doi:10.3390/ijns5020020 . . . . . . . . . . . . . 8 MichaelAngastiniotisandStephanLobitz Thalassemias:AnOverview Reprintedfrom:Int.J.NeonatalScreen.2019,5,16,doi:10.3390/ijns5010016 . . . . . . . . . . . . . 23 ClaudiaFro¨mmel NewbornScreeningforSickleCellDiseaseandOtherHemoglobinopathies:AShortReviewon ClassicalLaboratoryMethods—IsoelectricFocusing,HPLC,andCapillaryElectrophoresis Reprintedfrom:Int.J.NeonatalScreen.2018,4,39,doi:10.3390/ijns4040039 . . . . . . . . . . . . . 34 YvonneDanielandCharlesTurner NewbornSickleCellDiseaseScreeningUsingElectrosprayTandemMassSpectrometry Reprintedfrom:Int.J.NeonatalScreen.2018,4,35,doi:10.3390/ijns4040035 . . . . . . . . . . . . . 44 Pierre Naubourg, Marven El Osta, David Rageot, Olivier Grunewald, Gilles Renom, Patrick Ducoroy and Jean-Marc Pe´rini A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform Reprintedfrom:Int.J.NeonatalScreen.2019,5,10,doi:10.3390/ijns5010010 . . . . . . . . . . . . . 49 Maddalena Martella, Giampietro Viola, Silvia Azzena, Sara Schiavon, Andrea Biondi, GiuseppeBasso,PaolaCorti,RaffaellaColombatti,NicolettaMaseraandLauraSainati Evaluationof TechnicalIssuesin aPilot MulticenterNewbornScreening ProgramforSickle CellDisease Reprintedfrom:Int.J.NeonatalScreen.2019,5,2,doi:10.3390/ijns5010002. . . . . . . . . . . . . . 62 Yvonne Daniel, Jacques Elion, Bichr Allaf, Catherine Badens, Marelle J. Bouva, Ian Brincat, Elena Cela, Cathy Coppinger, Mariane de Montalembert, Be´atrice Gulbis, Joan Henthorn, Olivier Ketelslegers, Corrina McMahon, Allison Streetly, Raffaella Colombatti and Stephan Lobitz Newborn Screening for Sickle Cell Disease in Europe Reprintedfrom:Int.J.NeonatalScreen.2019,5,15,doi:10.3390/ijns5010015 . . . . . . . . . . . . . 70 v Be´atriceGulbis,Phu-QuocLeˆ,OlivierKetelslegers,Marie-Franc¸oiseDresse,Anne-Sophie Adam,Fre´de´ricCotton,Franc¸oisBoemer,VincentBours,Jean-MarcMinonandAlinaFerster NeonatalScreeningforSickleCellDiseaseinBelgiumforMorethan20Years: AnExperience forComprehensiveCareImprovement Reprintedfrom:Int.J.NeonatalScreen.2018,4,37,doi:10.3390/ijns4040037 . . . . . . . . . . . . . 82 NuraEl-HajandCarolynC.Hoppe NewbornScreeningforSCDintheUSAandCanada Reprintedfrom:Int.J.NeonatalScreen.2018,4,36,doi:10.3390/ijns4040036 . . . . . . . . . . . . . 90 JenniferKnight-Madden,KettyLee,Gise`leElana,NarcisseElenga,BeatrizMarcheco-Teruel, Ngozi Keshi, Maryse Etienne-Julan, Lesley King, Monika Asnani, Marc Romana and Marie-DominiqueHardy-Dessources NewbornScreeningforSickleCellDiseaseintheCaribbean:AnUpdateofthePresentSituation andoftheDiseasePrevalence Reprintedfrom:Int.J.NeonatalScreen.2019,5,5,doi:10.3390/ijns5010005. . . . . . . . . . . . . . 100 AnaC.Silva-Pinto,MariaCaˆndidaAlencardeQueiroz,PaulaJulianaAntoniazzoZamaro, MiraneteArrudaandHelenaPimenteldosSantos TheNeonatalScreeningPrograminBrazil,FocusonSickleCellDisease(SCD) Reprintedfrom:Int.J.NeonatalScreen.2019,5,11,doi:10.3390/ijns5010011 . . . . . . . . . . . . . 109 RoshanB.Colah,PallaviMehtaandMalayB.Mukherjee NewbornScreeningforSickleCellDisease:IndianExperience Reprintedfrom:Int.J.NeonatalScreen.2018,4,31,doi:10.3390/ijns4040031 . . . . . . . . . . . . . 116 AthenaAnderle,GermanaBancone,GonzaloJ.Domingo,EmilyGerth-Guyette,SampaPal andAriW.Satyagraha Point-of-CareTestingforG6PDDeficiency:OpportunitiesforScreening Reprintedfrom:Int.J.NeonatalScreen.2018,4,34,doi:10.3390/ijns4040034 . . . . . . . . . . . . . 124 JohnJamesandElizabethDormandy ImprovingScreeningProgrammesforSickleCellDisordersandOtherHaemoglobinopathiesin Europe:TheRoleofPatientOrganisations Reprintedfrom:Int.J.NeonatalScreen.2019,5,12,doi:10.3390/ijns5010012 . . . . . . . . . . . . . 137 BabaP.D.Inusa,KofiA.Anie,AndreaLamont,LivingstoneG.Dogara,BolaOjo,IfeomaIjei, WaleAtoyebi,LaraiGwani,EstherGaniandLewisHsu Utilisingthe‘GettingtoOutcomes(cid:2)R’FrameworkinCommunityEngagementforDevelopment andImplementationofSickleCellDiseaseNewbornScreeninginKadunaState,Nigeria Reprintedfrom:Int.J.NeonatalScreen.2018,4,33,doi:10.3390/ijns4040033 . . . . . . . . . . . . . 141 vi About the Special Issue Editors Stephan Lobitz is the director of the Department of Pediatric Hematology and Oncology at Gemeinschaftsklinikum Mittelrhein in Koblenz, Germany. He studied Medicine and HemoglobinopathiesinDu¨sseldorf,Berlin,andLondon,andtrainedatCharite´UniversityHospital inBerlin. HeisthespokespersonoftheSickleCellDiseaseManagementProgramoftheGerman SocietyofPediatricHematologyandOncologyandthecoordinatoroftheGermanSickleCellDisease TreatmentGuideline. Dr. Lobitzhasaspecialinterestinnewbornscreeningandcoordinatedthe recentEuropeanconsensusstatementonnewbornscreeningforsicklecelldisease. Jacques Elion received his MD from Paris Descartes and a PhD from Paris Diderot Universities. He was a Research Assistant at the Mayo Graduate School of Medicine, University of Minnesota andaFogartyScientistattheUSNationalInstitutesofHealth. DrElionisProfessorofMolecular GeneticsattheUniversite´deParisandVisitingProfessorattheUniversidadedeSa˜oPaulo.Heisthe formerDirectoroftheDeptofMedicalGeneticsattheRobertDebre´UniversityHospital. DrElion’s researchisfocusedonthepathophysiology,prevention,andglobalcareofSCD.Itisconductedat Unit1134oftheFrenchNationalInstituteofHealthandMedicalResearch(Inserm)shelteredbythe NationalInstituteofBloodTransfusioninParisandattheUniversityHospitalinGuadeloupe. The UnitispartoftheFrenchLaboratoryofExcellenceontheRedCell(GR-Ex).DrElionhasdeveloped extensive international collaborations, notably in sub-Saharan Africa, India, the Caribbean, and Brazil. DrElionhasorganizedandchairedseveralinternationalmeetings, includingthescientific sessionattheinauguralceremonyforthe1stWorldSCDDay,19June2009,UNHeadquarters,NYC. RaffaellaColombattiisapediatrichematologistandoncologistatPadovaUniversityinItaly. She is the coordinator of the Red Cell Disorder Working Group of the Italian Association of Pediatric HematologyOncology(AIEOP)andtheViceChairoftheVenetoRegionReferenceCenterforthe Diagnosis and Treatment of Sickle Cell Disease in Childhood and the Pilot Universal Newborn ScreeningProgramforSickleCellDisease. Hermaininterestsareinhemoglobinopathiesandchild globalhealthcare. Elena Cela graduated at Complutense University in Madrid, Spain and specialized in pediatric hematology and oncology. She is the coordinator of the hemoglobinopathy group of the Spanish Society of Pediatric Hematology and Oncology (SEHOP) and the Spanish Registry of Hemoglobinopathies(REHem).Prof.CelaistheheadoftheDepartmentofPediatricHematologyand OncologyatHospitalGregorioMaran˜o´ninMadrid,whichisareferralcenterforerythropathology. ShecontributedtotheimplementationoftheSpanishnewbornscreeningforsicklecelldiseasein Madrid in 2003 and coordinated the edition of the Spanish guidelines on sickle cell disease (2010 and2019).Hermaininterestsareredcelldisordersandnewbornscreening. vii International Journal of Neonatal Screening Editorial Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies” RaffaellaColombatti1,*,ElenaCela2,JacquesElion3andStephanLobitz4 1 DepartmentofChildandMaternalHealth,ClinicofPediatricHematology/Oncology,Azienda Ospedaliera-UniversitàdiPadova,35129Padova,Italy 2 DepartmentofPediatricOncology/Hematology,HospitalUniversitarioGeneralGregorioMarañón, FacultaddeMedicina,UniversidadComplutenseMadrid,28007Madrid,Spain; [email protected] 3 Laboratoired’ExcellenceGR-Ex,UMR_S1134,Inserm,UniversitéParisDiderot,SorbonneParisCité, InstitutNationaldelaTransfusionSanguine,75015Paris,France;[email protected] 4 DepartmentofPediatricHematologyandOncology,GemeinschaftsklinikumMittelrheingGmbH,56073 Koblenz,Germany;[email protected] * Correspondence:[email protected] Received:17September2019;Accepted:17September2019;Published:20September2019 Sicklecelldisease(SCD)isamongthemostcommongeneticdisordersintheworld,affectingover 300,000newbornsannually,withestimatesforfurtherincreasestoover400,000annualbirthswithin thenextgenerationandwithawidergeographicaldistributionofaffectedindividualsduetoglobal migration[1,2].BoththeWorldHealthOrganization(WHO)andtheUnitedNationshaveidentified SCDasacurrentglobalhealthburden[3,4]. TheoptimalcareforchildrenwithSCDstartswithnewbornscreening(NBS),whichcanestablish adiagnosisbeforetheonsetofsymptomsandallowearlyinterventionssuchasprophylacticpenicillin, pneumococcalimmunization,screeningwithTranscranialDopplerultrasound,caregivereducation, andcomprehensivecare[5].NBSfollowedbyadequatecomprehensivecarereducemorbidity,mortality, andhealthcarecostswhileimprovingthequalityoflifeforpatients. UniversalNBSisnowrecommendedintheUnitedStates,Europe,andBrazil,althoughwidespread implementationstillneedstobeachievedandmanychallengesremaintoensurethateverychildwith SCDisdiagnosedthroughNBS[6,7]. InthisSpecialIssueonNewbornScreeningforSickleCellDiseaseandOtherHemoglobinopathies (https://www.mdpi.com/journal/IJNS/special_issues/hemoglobinopathies), we have assembled a collectionofreviewandoriginalarticles. Wehavetriedtocoverthemostwidelyfacedchallengesinthefieldofnewbornscreeningfor SCD:unmetneedsinEuropeandhealthcarepolicyimplementationaswellaspatientinvolvement anddevelopmentofnewdiagnostictechniques. WewouldliketocommendtheauthorsfortheexcellentreviewsonthepathophysiologyofSCD andthalassemia,thestateoftheartofNBSatagloballevel,andthetechnologiesavailableforNBS. Wewouldalsoliketopraisetheauthorswhoprovidedoriginalarticlesonspecifictechnicaltopics whichunderstandingisessentialformorereliable,technicallysound,andfasterdiagnosis. Globaldiseasescanbetackledonlywithglobalandcoordinatedeffortsofdifferentexpertsranging fromclinicianstotechniciansandbasicscientists,aswellashealthcareplannersandthepatients themselvesacrossdifferentcountries. ThisSpecialIssuebringstogetheramultidisciplinaryglobal teampresentingtheactualsituationandproposalsforfuturedevelopments. ConflictsofInterest:Theauthorsdeclarenoconflictofinterest. Int.J.NeonatalScreen.2019,5,36;doi:10.3390/ijns5040036 1 www.mdpi.com/journal/ijns
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