Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

162 Pages·2019·8.566 MB·English

by  Stephan Lobitz (editor), Jacques Elion (editor), Raffaella Colombatti (editor)

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)
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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