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)

1 LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire
2 Hôpital La Rabta [Tunis]

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%).

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

Domaines: Sciences du Vivant [q-bio]; Génétique des populations [q-bio.PE]

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, 2007, 31 (1), pp.23 - 29. ⟨10.1080/03630260601057005⟩. ⟨pasteur-01375233⟩