?-thalassemia screening in diyarbakir with series analysis method unspecified types of mutation determination

ß- thalassemia, especially in the Mediterranean Countries and Turkey, and hemolytic anemia mikrositoz table sets out is one of the most common inherited disorders. Various countries and different regions of the country in terms of distribution is heterogeneous .In ß- thalassemia, gene mutations that occur on or around the beta globin chain of production to low or no reason not to be synthesized. Chain ß+and ߺ to the construction according to the two types are available. ߺ beta chain in the thalassemia, ever is done here. ß+-thalassemia in beta chain of the construction is only slightly.ß-thalassemia in Turkey is an important health problem. Yet there is no definitive treatment of this disease, because the molecular diagnosis and early prenatal diagnosis is very important for families at risk. Be very heterogeneous of the ß- thalassemia molecular level, disease diagnosis and prevention is very important for Turkey as an obstacle. Today, the automation, single-stage structure and kit to take effect with the methods, these difficulties were largely overcome. 21. century molecular biology and genetics of the leader of a revolution in medicine is unprecedented to witness. Based on DNA analysis and a fully recognized thalassemia program, as well as in other Mediterranean countries, is now being used in Turkey. Country-wide, reliable, effective and systematic molecular and early prenatal diagnosis program and strategy to the government in determining the major task is dropped.Other inherited disorders of hemoglobin from the Ministry of Healthand thalassemia health policy within the framework of the country is very important to adopt.For the fulfillment of this program, public education and awareness been intensified in addition, knowledge of the few research centers, technical infrastructure and transfer of experience with self-sacrifice is inevitable in the clinical laboratory. At this stage, these centers, both during the transfer of techniques, and more important role as a consultant for the next stage is.DNA sequence analysis, the primary structure of DNA highest resolution. Radioactivity is working with the manual method, in recent years, working with the fluorescent chemical branded gave way to the automated methods. ?-thalassemia mutations in Diyarbakir types of determining the frequency of prenatal diagnosis is clear benefits. Diyarbakir and Diyarbakir city center connected to the 13 (thirteen) in the county (Cinar, Bismil, Hazro, Silvan, Kulp, Ergani, Egil, Hani, Lice, Dicle, Cungus, Cermik and Kocakoy) screening study was done in primary school children. In this study, 3 of primary schools classes (average 9 years), 8 classes to date (average 14 years) age groups 10038 (ten thousand thirty-eight) in children with beta-thalassemia screening was performed. This routine of samples taken from children as a result of Full Blood Count MCV values that are determined to be under 79 fL'nin HPLC samples were performed. HPLC with HbA2 values high (? 3.5%) contained examples of beta-thalassemia carriers taking into account the probability that DNA mutation analyzed. This end, the thalassemia carrier screening in Diyarbakir region of unknown %26.3 frequency of mutation was found. DNA sequence analysis of 33 samples of unknown mutations with the group entered was invetigated.This study can not be identified by molecular methods for mutation by DNA sequence analysis methods have been investigated and two ivs 110 in patients with homozygous mutations, in a patient 221.TTAGGC-TTACGC ıvs.1.130 mutation, found in a patient has ivs.110 heterozigot other patients were normal.Key Words:Diyarbakir, ß-Thalassemia, PCR, mutations, DNA sequence analysis, sequence.