Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

Background and objective: Alpha-thalassemia is one of the most recessively congenital hemoglobin disorders in the world, and is characterized by decreased or absence of alpha globin chains production. Although it has been suggested that the frequency of alpha-thalassemia in Iran is greater than worldwide, its exact rate is unknown. Due to lack of more studies on this topic in this area, the aim of the present study was to determine prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Methods: In this cross-sectional study, one thousand newborns were referred for screening of alpha thalassemia at a pediatric unit in Ardabil province between April 2016 and March 2018. Cases with Mean Corpuscular Volume (MCV) <100 fL and Mean Corpuscular Hemoglobin (MCH) < 33 pg were referred for serum Ferritin measurement, Hb electrophoresis and then genetic analysis. Collected data were analyzed by statistical methods such as number, percent and Mean±SD in SPSS version 21. Results: The prevalence of α-thalassemia in studied newborns was 3.3% in Ardabil province. The most common mutation was the 3.7 single gene deletions that were found in 42.4% (14 cases) of newborns with α-Thalassemia. Conclusions: Results showed that, the prevalence of α-thalassemia in Ardabil province was lower than the average rate for the country and the most common mutation was –α/αα, which was similar to other places in Iran.