Iranian Biomedical Journal مجله بیومدیکال ایران IBJ Basic Sciences http://ibj.pasteur.ac.ir 1 admin 1028-852X 2008-823X - 10.61882/ibj - 8888 - en jalali 1398 8 1 gregorian 2019 11 1 23 6 online 1 fulltext
en A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله موردی Case Report <strong>Background: </strong>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 variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. <strong>Methods</strong>: A six-year-old boy from Khuzestan Province and his parents were studied. Gap-PCR and direct sequencing were performed to detect the a-globin gene deletions and &beta;-globin gene mutations, respectively. <strong>Results:</strong> The subject had a sporadic mutation GTG to ATG (Val [valine]>Met [methionine]) at codon 67 in heterozygous form on &beta;-globin gene, which was not detected in his parents. <strong>Conclusion:</strong> Since both parents proved to be normal, this Hb variant could be considered as a <em>de novo </em>mutation, which is highly useful for prenatal diagnosis.&nbsp; Anemia, Hemoglobin Alesha, Mutation 429 431 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-753&slc_lang=en&sid=1 Mohammad Hamid 0000-0002-4625-0713 Yes Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Ebtesam Zargan Nezhad 0000-0002-2239-0375 No Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Hamid Galehdari 0000-0001-6281-4809 No Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Alihossein Saberi 0000-0003-4360-9118 No Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Gholamreza Shariati 0000-0003-4042-2913 No Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Alireza Sedaghat 0000-0002-3238-8914 No Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran