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Iranian Biomedical Journal، جلد ۲۳، شماره ۶، صفحات ۴۲۹-۴۳۱
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چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient
چکیده انگلیسی مقاله 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 variant in 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 a-globin gene deletions and β-globin gene mutations, respectively. Results: The subject had a sporadic mutation GTG to ATG (Val [valine]>Met [methionine]) at codon 67 in heterozygous form on β-globin gene, which was not detected in his parents. Conclusion: Since both parents proved to be normal, this Hb variant could be considered as a de novo mutation, which is highly useful for prenatal diagnosis. 
کلیدواژه‌های انگلیسی مقاله Anemia, Hemoglobin Alesha, Mutation
نویسندگان مقاله | Mohammad Hamid
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran


| Ebtesam Zargan Nezhad
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Hamid Galehdari
Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


| Alihossein Saberi
Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


| Gholamreza Shariati
Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


| Alireza Sedaghat
Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-753&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-1938742.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
نوع مقاله منتشر شده مقاله موردی
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