Author/Authors :
Hamid, Mohammad Department of Molecular Medicine - Biotechnology Research Center - Pasteur Institute of Iran, Tehran, Iran , Zargan Nezhad, Ebtesam Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Galehdari, Hamid Department of Medical Genetic - Faculty of Medicine - Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran , Saberi, Alihossein Department of Medical Genetic - Faculty of Medicine - Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran , Shariati, Gholamreza Department of Medical Genetic - Faculty of Medicine - Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran , Sedaghat, Alireza Department of Pediatrics - School of Medicine - Ahvaz JundishapurUniversity of Medical Sciences, Ahvaz, Iran
Abstract :
Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues.In this study, we describe the first report of this variantin an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly.Methods: A six-year-old boy from Khuzestan Province and his parents were studied. Gap-PCR and direct sequencing were performed to detect the -globin gene deletions and β-globin gene mutations,respectively.Results:The subject hada sporadic mutation GTG to ATG (Val[valine]>Met[methionine]) at codon 67 in heterozygous form on β-globin gene,which wasnotdetected in his parents.Conclusion:Since both parents proved to be normal, this Hb variant could be consideredas a de novo mutation,whichishighly useful for prenatal diagnosis.
