Author/Authors :
Hamid, Mohammad Narges Medical Genetics and PND Laboratory, ايران , Hamid, Mohammad Pasteur Institute of Iran - Biotechnology Research Center - Department of Molecular Medicine, ايران , Shariati, Gholamreza Narges Medical Genetics and PND Laboratory, ايران , Shariati, Gholamreza ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetics, اهواز, ايران , Saberi, Alihossein Narges Medical Genetics and PND Laboratory, ايران , Saberi, Alihossein ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetics, اهواز, ايران , Kaikhaei, Bijan Narges Medical Genetics and PND Laboratory, ايران , Galehdari, Hamid ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetics, اهواز, ايران , Mohammadi-Anaei, Marziye Narges Medical Genetics and PND Laboratory, ايران
Abstract :
We described the first report of IVS-I (-1), codon 30 (G C) or Hb Monroe in five individuals from four unrelated families in Khuzestan Province. Polymerase chain reaction (PCR) followed by sequencing of the beta-globin gene confirmed the presence of Hb Monroe in the heterozygous form which causes beta-thalassemia due to missplicing in the course of mRNA processing. This mutation has been described in individuals originated from Arabic and Behbahani origins, Ahvaz City, south of Iran. The knowledge of the beta-globin variants present in the Iranian population is essential for the molecular diagnosis and prevention of hemoglobinopathies.
Keywords :
Beta , globin gene , Iran , thalassemia (thai)