Investigation of distribution of beta-thalassemia hereditary mutations in Manisa and around of it

Beta (ß)-thalassemia is the most common genetic disease in worldwide due to point mutation on ß-globin gene which is localized on short arm of 11. chromosome as a cluster. It is inherited as autosomal recessive. ß-thalassemia which is presented with hemolytic anemia is the most common genetic disease in Turkey as well as in Mediterranean countries.Eighty five patients with ß-thalassemia carriers and patients which were admitted to Pediatric Hematology outpatient clinic of Celal Bayar University included to this study. The inclusion criteria of ß-thalassemia carriers were accepted as HbA2 levels greater than3,5%. The ß -Globin StripAssay test is used to dedect mutations.From total 85 participants, 67(95,8%) were heterozygote, only one (1,4%) was homozygote and 2 (2,8%) were detected as carrying compound heterozygote form of mutant allele. In our findings, most common ß-thalassemia mutation was IVS1-110(35,3%) in Manisa and around of it. Other mutations followed it respectively; IVS2-1 (14,1%), codon39(8,2%)IVS2-745 (7,1%), IVS1-6 (5,9%), IVS1-1 (3,5%), codon5 (2,4%), codon8 (3,5%), codon44 (2,4%), -87 (1,2%), codon36/37(1,2%). Mutations of -30, HbC,HbS, codon 6, codon8/9, codon22, codon30, IVS1-2, IVS1-5, IVS1-116, IVS1-25, codon 44 were not detected in any participant.Both,in 15 participants withHbA2 level greater than 3,5% ,non of these mutations were detected.In our study ,ß -Globin StripAssay test?s sensivity was 82,3% .Results of this study may be help to the clinicians to diagnose and plan of treatment and may contribute to determine the map of thalassemia in our country.With molecular pathology knowledge during genetic consultancy, clear and reliableinformation can be given to the individuals in risky group and risk of ill child birth may be reduced.