Article
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.
Archives of Iranian medicine - 1 Sept 2013
Hamid Mohammad, Shariati Gholamreza, Saberi Alihossein, Kaikhaei Bijan, Galehdari Hamid, Mohammadi-Anaei Marziye
Abstract excerpt
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...
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