Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2);HBA2: c.251T>G],A New Hemoglobin Variant of theα2-Globin Gene

Autor:	Alihossein Saberi, Mohammad Hamid, Marziye Mohammadi-Anaei, Bijan Kaikhaei, Gholamreza Shariati, Hamid Galehdari
Rok vydání:	2013
Předmět:	Adult Family Health Male Genetics Heterozygote Base Sequence Hemoglobins Abnormal DNA Mutational Analysis Biochemistry (medical) Clinical Biochemistry Hemoglobin variants Hematology Iran Biology Young Adult Mutation Mutation (genetic algorithm) Humans Female Cellulose acetate electrophoresis Hemoglobin A2 Globin gene Novel mutation Gene Genetics (clinical)
Zdroj:	Hemoglobin. 37:477-480
ISSN:	1532-432X 0363-0269
DOI:	10.3109/03630269.2013.792095
Popis:	We report a novel mutation on the α2-globin gene, codon 83 (TG), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α(0)-thalassemia (α(0)-thal) defects, might induce severe clinical symptoms.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1f4d8cc201ceb7c9d22acbaf034874 https://doi.org/10.3109/03630269.2013.792095 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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