HEMOGLOBINOPATHIES PATIENTS AS GOLD STANDARD DNA SEQUENCING IN TURKEY

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HEMOGLOBINOPATHIES PATIENTS AS GOLD STANDARD DNA SEQUENCING IN TURKEY

Journal Title: European Journal of Pharmaceutical and Medical Research - Year 2018, Vol 5, Issue 3

Abstract

Hemoglobinopathies constitute the most common monogenic disorders in Turkey, caused by mutations in the globin genes which synthesized the globin chains of hemoglobin. They are classified into two groups as structural hemoglobin variants and thalassemia. We want to showed that DNA sequencing method approach is considered the’‘gold standard’ for DNA sequence analysis. The study was designed retrospectively among the 100 patients that prediagnosed Hemoglobinopathy undetectable the mutations with ARMS and RFLP. DNA sequencing was performed. In addition, erythrocyte the indice, HbF, HbA2 levels were compared. Statistically; Man Witney and ANOVA test was performed. 100 samples with methods mentioned above unidentified mutation were examined by DNA sequence analysis. While the study can not be detected mutations in 39 individuals, it detected mutations in 41 individuals. Mutations detected in individuals MCV, MCH values were statistically lower than those of who can not be detected mutations (p <0.005). HbA2 and RDW values were significantly higher (p <0.05). RBC, Hb, Hct, MCHC, significant differences were not found in HbF values. DNA sequence analysis is the one of most effective way unidentified mutations by other methods. Although the traditional methods as ARMS and RFLP are are time consuming and prolong the turnaround time for diagnosis. We think to be simpler and more quicker than ARMS and RFLP, made was it a good choice for rapid prenatal diagnosis of thalassemia and sickle cell disease in Turkey.

Authors and Affiliations

Yusuf Döğüş

Keywords

EP ID EP636025
DOI -
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