Hb A 2 -Pasteur-Tunis [δ59(E3)Lys→Asn, AA G →AA C ]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β 0 -Thalassemia Mutation

Abstract : We describe a new delta-globin variant, Hb A(2)-Pasteur-Tunis [delta 59(E3)Lys -> Asn, AAG -> AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A(2) and was expressed at 2.2%. The molecular defect was characterized, by DNA sequencing and confinned by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A(2)-Pasteur-Tunis was found in a carrier of a codon 39 (C -> T) beta(0)-thalassemia (thal), presenting with a normal Hb A(2) level. Phenotype and genotype investigations revealed that the total Hb A(2) level of the patient was that expected for a minor beta-thal (4.8%).
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Article dans une revue
Hemoglobin, Informa Healthcare, 2007, 31 (1), pp.23 - 29. 〈10.1080/03630260601057005〉
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Contributeur : Institut Pasteur Tunis <>
Soumis le : lundi 3 octobre 2016 - 01:55:23
Dernière modification le : mercredi 30 août 2017 - 01:10:11

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Imen Moumni, Amine Zorai, Bechir Ben Daoued, Ikbel Mosbahi, Souheil Omar, et al.. Hb A 2 -Pasteur-Tunis [δ59(E3)Lys→Asn, AA G →AA C ]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β 0 -Thalassemia Mutation. Hemoglobin, Informa Healthcare, 2007, 31 (1), pp.23 - 29. 〈10.1080/03630260601057005〉. 〈pasteur-01375233〉

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