Investigation of the molecular basis of beta-thalassemia ın malatya

GONCA GÜLBAY-INVESTIGATION OF THE MOLECULAR BASIS OF BETA-THALASSEMIA IN MALATYAABSTRACTBeta thalassemia is one of the most common genetic disorders in Turkey as well as inseveral other Mediterranean countries presenting microcytosis and hemolytic anemia.In this study, the most prevalent beta globin gene mutations (-87 (C>G), -30 (T>A),codon 5 (-CT), hemoglobin C (HbC), hemoglobin S (HbS), codon 6 (-A), codon 8 (-AA),codon 8/9 (+G), codon 22 (7bp del), codon 30 (G>C), IVS 1.1 (G>A), IVS 1.2 (T>A), IVS1.5 (G>C), IVS 1.6 (T>C), IVS 1.110 (G>A), IVS 1.116 (T>G ), IVS 1-25 (25bp del), codon36/37 (-T), codon 39 (C>T), codon 44 (-C), IVS 2.1 (G>A), IVS 2.745 (C>G)) wereanalyzed for 41 cases referred to our department with the diagnosis of beta thalassemia.Of these cases, 32 (78.05%) were identified with an beta globin gene mutation. Amongthose, 6 patients were found to be homozygote for beta globin gene mutations; 26patients were heterozygous. According to our results; the IVS 1.110 (G>A) is the mostfrequent mutation type in our province the same as other geographical regions ofTurkey. The most frequent mutations in heterozygous or homozygous patients were IVS1.110 (G>A), IVS 1.1 (G>A), IVS 2.1(G>A), codon 8(-AA) and codon 8/9 (+G), comprising28.13%, 9.38% and 4.64% of the alleles, respectively. The codon 44 (-C) mutationaccounted for 3.13% of the alleles only and codon 5 (-CT), codon 22 (7bp del) and codon39(C>T) mutations were rarely determined.Key Words: Beta thalassemia, mutation, globin gene, molecular analysis, PCR