Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, a 290-bp β-globin gene deletion in the south of Iran.
Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out according to the standard methods. Genomic DNA was obtained from peripheral blood cells by salting out procedures. β-globin gene amplification, multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing were performed.
Results: The PCR followed by sequencing and MLPA test of the β-globin gene confirmed the presence of a 290-bp deletion in the heterozygous form, along with -88C>A mutation. All the individuals had elevated hemoglobin A2 and normal fetal hemoglobin levels.
Conclusions: This mutation causes β0-thalassemia and can be highly useful for prenatal diagnosis in compound heterozygous condition with different β-globin gene mutations.
Keywords: β-thalassemia; β-globin gene mutation; Iran; Multiplex ligation-dependent probe amplification.