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

Imen Moumni; Amine Zorai; Bechir Ben Daoued; Ikbel Mosbahi; Souheil Omar; Neziha Kaabachi; Koussay Dellagi; Salem Abbes

doi:10.1080/03630260601057005

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

Imen Moumni ¹ Amine Zorai ¹ Bechir Ben Daoued ¹ Ikbel Mosbahi ¹ Souheil Omar ² Neziha Kaabachi ² Koussay Dellagi ¹ Salem Abbes ^{1, 2, *}

* Auteur correspondant

1 LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire

2 Hôpital La Rabta [Tunis)

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%).

Keywords : β-Thalassemia (thal) Hb A2 variant Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) Sequencing

Type de document :

Article dans une revue

Hemoglobin, Informa Healthcare, 2007, 31 (1), pp.23 - 29. 〈10.1080/03630260601057005〉

Domaine :

Sciences du Vivant [q-bio]

Sciences du Vivant [q-bio] / Génétique / Génétique des populations [q-bio.PE]

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https://hal-riip.archives-ouvertes.fr/pasteur-01375233
Contributeur : Institut Pasteur Tunis <>
Soumis le : lundi 3 octobre 2016 - 01:55:23
Dernière modification le : lundi 8 octobre 2018 - 17:44:07

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

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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

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