Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   SEPTEMBER 2013 , Volume 16 , Number 9; Page(s) 563 To 564.
 
Paper: 

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 (CASE REPORT)

 
 
Author(s):  HAMID MOHAMMAD*, SHARIATI GHOLAMREZA, SABERI ALIHOSSEIN, KAIKHAEI BIJAN, GALEHDARI HAMID, MOHAMMADI ANAEI MARZIYE
 
* DEPARTMENT OF MOLECULAR MEDICINE, BIOTECHNOLOGY RESEARCH CENTER, PASTEUR INSTITUTE OF IRAN, TEHRAN 13164, 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.

 
Keyword(s): BETA-GLOBIN GENE, IRAN, THALASSEMIA (THAL)
 
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