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 Hopital 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〉
Liste complète des métadonnées
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 5 février 2018 - 15:22:12

Identifiants

Collections

RIIP | RIIP_TUNIS

Citation

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〉

Exporter

BibTeX TEI DC DCterms EndNote

Partager

Métriques

Consultations de la notice

25

Contact

support.ccsd.cnrs.fr
hal.support@ccsd.cnrs.fr
Logo CCSD