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] β0-Thalassemia [IVS-I-1 (β143, G>A); HBB: c.92+1G>A]. (April 2014)

• Record Type: Journal Article
• Authors: Moumni, Imen; Zorai, Amine; Mahjoub, Sonia; Mosbahi, Ikbel; Chaouechi, Dorra; Benromdhane, Neila; Abbes, Salem
• Is Part Of: Hemoglobin. Volume 38:Number 2(2014)
• Page Start: 88
• Page End: 90
• Publication Date: 2014-04
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.872123
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>We describe a new δ-globin variant, Hb A₂-Tunis [δ46(CD5)Gly → Glu; <italic>HBD</italic>: c.140G&gt;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 β⁰-thalassemia (β⁰-thal) [IVS I-1 (β143, G&gt;A); <italic>HBB</italic>: c.92 + 1G&gt;A] and Hb C [β6(A3)Glu → Lys; <italic>HBB</italic>: c.19G&gt;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.</p> </abstract>