Factor VIII haplotypes frequencies in Tunisian hemophiliacs A.docVIP

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Factor VIII haplotypes frequencies in Tunisian hemophiliacs A.doc

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Factor VIII haplotypes frequencies in Tunisian hemophiliacs A

Elmahmoudietal.DiagnosticPathology2011,6:54 /content/6/1/54 SHORT REPORT OpenAccess FactorVIIIhaplotypesfrequenciesinTunisian hemophiliacsA HejerElmahmoudi1*,NejlaBelhedi1?,AsmaJlizi1?,KaoutherZahra2,BalkisMeddeb2,AmelBenAmmarElgaaied1 andEmnaGouider2 Abstract Background:Thedevelopmentofinhibitorsagainstfactor8(F8)isthemostseriouscomplicationofreplacement therapywithF8inchildrenwithseverehemophilia.ItwassuggestedthatmismatchedF8replacementtherapy maybeariskfactorforthedevelopmentofanti-factorF8alloantibodies.Recentlyfoursinglenucleotide polymorphisms(SNPs)encodingsixdistincthaplotypes,designatedH1throughH6,werestudiedindifferent populations.TwoSNPsarecomponentsoftheA2andC2immunodominant-inhibitorepitopes. Theaimofthisstudyistodeterminethedifferenttypesofhaplotypesinrelationwithinhibitorsdevelopments andtheirfrequenciesinourTunisianhemophiliacpopulation. Materialsandmethods:95/116TunisianpatientswithhemophiliaAundergoingtreatmentatHemophilia TreatmentCenter,AzizaOthmanahospital,participateinthisstudy.Amongthemonlysixpatientsdevelop inhibitors.ThefourSNPswereamplifiedandsequenced. ResultsandDiscussion:Inatotalof77patients,weidentifiedtheH1,H2,H3andtheinfrequentH5haplotypes. TheH1andH2haplotypes,whichhavethesameaminoacidsequenceintherecombinantF8moleculesused clinically,arethemostrepresentedwiththefrequencyof0.763and0.157respectively.Thisdistributionisalmost similartothatofCaucasiansinwhichthefrequenciesarerespectively0.926and0.074,whereasitis0.354and 0.374amongSubsaharians.FourpatientswithinhibitorsstudiedherehavetheH1haplotype.Foronepatientwho hasalargedeletionincludingtheexon10wecan’tidentifyhishaplotype.Thesesfrequenciesmayexplainpartially thelowlevelofinhibitorsinourpatients. Introduction differs significantly in different ethnic groups [3]. Four HemophiliaAisarecessively inherited X-linkedbleed- non synonymous SNPs: G1679A (exon10), A2554G ingdisorderwhichresultsfromdeficiencyoffactorVIII (exon14), C3951G (exon14) and A6940G (exon25) (F8). Treatment