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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 1
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Original

Hb A2-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β0-Thalassemia Mutation

, , , , , , & show all
Pages 23-29 | Received 07 Jul 2006, Accepted 11 Sep 2006, Published online: 07 Jul 2009
 

Abstract

We describe a new δ-globin variant, Hb A2-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A2 and was expressed at 2.2 %. The molecular defect was characterized by DNA sequencing and confirmed by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A2-Pasteur-Tunis was found in a carrier of a codon 39 (C→T) β0-thalassemia (thal), presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the total Hb A2 level of the patient was that expected for a minor β-thal (4.8%).

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