Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)

Hereditary persistence of fetal hemoglobin (HPFH) and δβ-thalassemia are heterogeneous disorders characterized by elevated levels of fetal hemoglobin (Hb F). Deletional mutations are responsible for the disease and are not recognized by routine hematological tests. The aim of this study was to perform a molecular characterization of beta globin gene cluster deletions in anemic patients referred to the genetic laboratory of Amirkola children hospital. In this cross sectional study, thirty patients (14 females and 16 males) with mild microcytic hypochromic anemia with hematologic index (MCV<80 fl, MCH<27 pg, variable HbA2 and high level of Hb F) were tested for the 3 common delta beta deletional mutations: Sicilian δβ-thalassemia, Asian-lndian inversion-deletion γδβ-thalssemia and hemoglobin Lepore using Gap-PCR technique. Sicilian, Asian-lndian γδβ-thalssemia deletions as well as the Hb Lepore were found respectively in 6 (20%), 6 (20%) and 1 (3.33%) patients and 17 cases remained uncharacterized. Regarding the presence of different forms of deletion in beta globin gene cluster in this region, molecular characterization of these mutations is important in at risk couples presenting microcytic anemia and should be considered in premarital screening and prenatal diagnosis centers for a more efficient thalassemia major prevention program.