title: Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran.
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.
authors: Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran, Narges Medical Genetics and PND Laboratory, Ahvaz, Iran. hamid143@yahoo.com
authors: Mohammad
authors: M
authors: Hamid
authors: Gholamreza
authors: G
authors: Shariati
authors: Alihossein
authors: A
authors: Saberi
authors: Bijan
authors: B
authors: Kaikhaei
authors: Hamid
authors: H
authors: Galehdari
authors: Marziye
authors: M
authors: Mohammadi-Anaei
mesh_terms: D000328:Adult; D003062:Codon / Q000235:genetics; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C059060:hemoglobin Monroe