Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016

Background: Alpha Thalassemia is one of the most prevalent disorders worldwide with a high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with haemoglobin H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hematological indices and β-globin gene mutations, in heterozygote states, leads to intermediate form of thalassemia. Using precise molecular analysis, the mutations that do not change the hematological parameters can be identified. The diagnosis of these mutations is important in screening programs. Materials and Methods: Multiplex Gap-PCR and reverse hybridization assay analysis were applied for the detection of mutations on α and β-globin genes in a patient with abnormal hematological indices from Sari at 2016. Results: A rare co-inheritance of --MED double gene deletion and αααAnti3.7 triplication was identified. Conclusion: The presented case can be at risk of having a child with HbH disease and thalassemia intermedia. So, the presented case shows the importance of precise molecular analysis in premarital screening in order to prevent having a child with thalassemia.