A new δ chain variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A], observed in a Tunisian family in association with a compound heterozygosity for Hb C [β6(A3)Glu → Lys; HBB: c.19G>A] β(0)-thalassemia [IVS-I-1 (β143, G>A); HBB: c.92+1G>A].

Imen Moumni (1) , Amine Zorai (1) , Sonia Mahjoub (2) , Ikbel Mosbahi (1) , Dorra Chaouechi (1) , Neila Benromdhane (2) , Salem Abbes (1)

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

We describe a new δ-globin variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A]. This hemoglobin (Hb) variant displayed a faster electrophoretic mobility than normal Hb A2 and was expressed at 3.2%. The molecular defect was characterized by DNA sequencing analysis. Hb A2-Tunis was found in a carrier of a β(0)-thalassemia (β(0)-thal) [IVS I-1 (β143, G>A); HBB: c.92 + 1G>A] and Hb C [β6(A3)Glu → Lys; HBB: c.19G>A], presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the patient has a total Hb A2 level of 7.1% that was expected for a β-thalassemia (β-thal) minor carrier.

Keywords: β-Thalassemia (β-thal); δ-globin; Hb A2 variant; hemoglobinopathy

Domains: Life Sciences [q-bio]

Imen Moumni, Amine Zorai, Sonia Mahjoub, Ikbel Mosbahi, Dorra Chaouechi, et al.. A new δ chain variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A], observed in a Tunisian family in association with a compound heterozygosity for Hb C [β6(A3)Glu → Lys; HBB: c.19G>A] β(0)-thalassemia [IVS-I-1 (β143, G>A); HBB: c.92+1G>A].. Hemoglobin, 2014, 38 (2), pp.88-90. ⟨10.3109/03630269.2013.872123⟩. ⟨pasteur-01060992⟩