The mutation analysis at the beta-thalassemia major patients and parents

In this study, patients diagnosed with beta thalassemia and their parents were subjected to hematological and hemoglobin variant analysis. Mutation diversity had been determined with the gold standart method DNA sequencing. A total of 90 people, 30 of them beta thalassemia major patients that have been followed-up and treated in Hematology Clinics of Dicle Üniversity Medical School Hospital and 60 of them were their parents, included in the study. Blood samples of both of patients and their parents into two EDTA containing tubes for all analyses. Hematological analysis had been performed with flowcytometric method and mutations with DNA sequencing. 8 different mutations were determined. By frequency: IVS-I-110 (G->A) % 46.67, Codon 8 (-AA) % 16.67, IVS-II-1 (G->A) % 11.67, Codon 44 (-C) % 10.00, IVS-II-745 (C->G) % 5.00, IVS-I-1 (G->A) % 3.33, IVS-I-5 (G->T) % 3.33 ve -30 (T->A) % 3.33. In addition to these mutations, four missense single nucleotide polymorphisms were determined. Due to the transfusion therapy, diversity was noticed in hemoglobin concentration (9.20±1.32 g/dL) and Hb variants levels (HbA 86.32 ±12.09, HbF 10.95±11.94). Typical carrier hemogram count and Hb variants levels were seen in parents. In our study, a similar distribution was identified throughout Turkey in terms of mutations. Mutations were classified in all the studied people. Average Hb level of 9.20±1.32 g/dL shows a sufficient follow-up and treatment of the disease. This study increased the resolution of mutation detection in Diyarbakır due to the use of DNA sequencing. Thereafter large scale mutation detection studies will help to screen realistic regional data in terms of mutation diversity of beta thallasemia. Determination of unknown mutations in our region, where carier frequency is realtively high, will help to prevent birth of diseased children via prenatal diagnosis.