DOI: 10.36347/sjams.2018.v06i04.066

Pages: 1704-1707

The beta thalassemia is common genetic disorders in Turkey that characterised by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule. In this study, we aimed to determine the effect of the mutation type at beta-globin gene on the hematological values in beta-thalassemia individual. This retrospective study was undertaken by Prenatal Diagnosis Centres of Cukurova University Medical Biochemistry at Adana. We evaluated 80 heterozygous individual by implementing DNA sequencing analysis for the mutations undetectable by conventional methods. 40 individuals with βo [FSC 44/ C-A] mutation and the other 40 individuals with βo [(IVS-II-1(G>A), CD39 (C>T), Cd 8 (-AA) Cd 39 C> T and CD 36/37 (–T)] mutations, totally 40 individuals were included in the study. Erythrocyte indices, HbF, HbA2 levels were compared between the two groups. FSC 44/(-C) mutations detected in individual HbA2 and RBC values were statistically higher than, with other detected mutations (p <0.05). Hct, MCV, MCH, MHCH values were significantly lower (p <0.05). For the first time in this study, it was found that the HbA2 and RBC values of the persons who carrying the FSC 44/(-C) mutation were significantly higher than the persons who carrying other mutations and the Hct, MCV, MCH, MHCH values were found to be significantly lower than the other mutations. This will also help to make a diagnosis.