The prevalence and genotypes of alpha-thalassemia in Adıyaman: two rare alpha variants

Abstract

Abstract Introduction Alpha-thalassemia (α-thal) is one of the most common diseases in the world, and is more common in the Mediterranean countries, the Middle East, Southeast Asia, and Africa. The aim of this study was to determine the prevalence and genotypes of α-thal in high school students in Adıyaman province, Southeast Turkey. Methods In this study, a total of 289 people were screened for α-thal mutations by multiplex gap-PCR and ARMS. Results α-thal mutation frequency was determined to be 13.15%. Five different mutations were identified and the most common mutation was found to be −3.7 deletions with a frequency of 11.07%. We identified two heterozygous alpha hemoglobin variants. We described the second case of heterozygote Hb Fontainebleau of Turkish origin. Here, we also reported another heterozygote hemoglobin variant, Hb Q-Iran, previously reported in a few cases in another part of Turkey. Discussion and conclusion This study covers the frequency of α-thal disease, and the molecular analysis is the first study in the Southeastern Anatolia Region of Turkey. The prevalence of the α-thal trait is low in Adıyaman Province, compared to the other cities of Turkey.