Molecular characterization of Beta- thalassemia Mutations in Holy Karbala

Abstract

AbstractBeta- thalassemia is autosomal recessive disease that spread inhigh percentages around the world. the importance of the presentstudy was in evaluating the disease in holy Kerbala، Iraq using moleculartechniques.A total of 36 of blood samples were collected from beta- thalassemiamajor patients، 20 samples intermedia thalassemic patients fromthalassemia center- AL-Hussain medical city in holy Kerbalagovernorate، and 20 samples from apparently healthy individuals as acontrol group.The DNA molecules were extracted from all samples for molecularcharacterization of four β- thalassemia mutations are [IVS1-110(G>C)،CD8/9(+G)،-87(C>G)،CD41/42(-TCTT)] using PCR basedtechnique called Amplification Refractory Mutation System (ARMS).The results revealed that IVS1-110 is the common mutation70%) in the studied samples، the CD8/9(+G) mutation was ) 14diagnosed for first time in holy Kerbala 2(10%)، the -87(C>G) wasdiagnosed for the first time in Iraq in percentage 4(20%) and finally theCD 41/42 was not diagnosed in the studied samples.Geographical distribution of diagnosed mutations were studied thedistribution of mutations within Kerbala regions، the results showedthat the city center was more affected with diagnosed mutations.Finally، results also revealed that heterozygotes were the moregenotypic patterns 20(74.07%) of mutations in comparison withhomozygotes with were 5(18.52%)، and the compound cases were2(7.41%) of studied mutations.Key words: Thalassemia، ARMS-PCR، Mutations، IVS1-110(G>C)،CD8/9(+G)،-87(C>G)،CD41/42(-TCTT)، Kerbala.