Assessment of Genetic Variation of alfa- and beta-Thalassemia Disorder among Marriage Applicants in Abadan and Khorramshahr

[摘要] BackgroundandObjective:Thalassemiaisahereditaryanemia.Twomaintypesareclassifiedasα-andβ-Thalassemia..Morethan95%ofknowncasesofα-Thalassemiaisduetothedeletionofoneortwogenes,α-globinchainsofchromosomes(2).SubjectandMethods:Inthiscross-sectionalstudy,17,581persons,bloodparametersweremeasured.subjectshavingMCVlt;80,MCHlt;27,HBA2≥3/5ofthecarriersβ-Thalassemiagenewereconsidered,fromwhom50personswereandomlyselectedandgeneticlaboratorytoidentifythemutationwasreferred(4).Results:From17,581,995applicant,equivalent(5.6%)ofcarriersofβ-thalassemiatraitwithfrequencyvariationinmutatiomngeneinIVSІІ-1(25%),IVSІ-110(16%),CD36/37(15%),IVSІ-S(8%),CD5(9%),IVSІ-6(7%),IVSІ-1(5%),CD39(5%).Whilethegenotypefrequenciesforα-thalassemiamutationswereαα/med--with11percentand-α3.7/-α3.7,αα/-α4.2with10%and7%respectivelyEightyofthesecaseswerecarrierofdeletionmutationgenotypeαα/αpolyA2αand9%α-thalassemiamutationgenotypewerenon-deletion(4).Conclusions:ThisstudyshowedthattheprevalenceofthalassemiaminorinAbadanandKhorramshahr5.6percentis.ThemostcommonmutationwasIVSII-Itype.Thefrequencyofα-thalassemiais6.65percent.Theα-genecarriersandthemostalphachaingenedisordersgroupαα/-α3.7with50%frequency(6).

[学科分类] 基础医学