Two Complex Associations of an HBD Mutation and a Rare α Hemoglobinopathy. (October 2013)

• Record Type: Journal Article
• Authors: Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Francina, Alain
• Is Part Of: Hemoglobin. Volume 37:Number 5(2013)
• Page Start: 486
• Page End: 491
• Publication Date: 2013-10
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.806331
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>We present two case reports in which an <italic>HBD</italic> mutation is present with a rare α hemoglobinopathy that substantially complicates the associated phenotype. In the first case, a new δ-globin variant, Hb A₂-Pierre-Bénite [δ83(EF7)Gly→Arg; <italic>HBD</italic>: c.250G&gt;C] is associated with Hb Groene Hart [α119(H2)Pro→Ser (α1); <italic>HBA1</italic>: c.358C&gt;T], an α-thalassemic variant. In the second case, a δ⁺-thalassemic variant, δ4(A1)Thr→Ile; <italic>HBD</italic>: c.14C&gt;T, is associated with a newly described deletion of the hypersensitive site 40 (HS-40) region on the α-globin gene cluster. In both patients, a δ-globin mutation was suspected because of an abnormally low Hb A₂ level, whereas the α hemoglobinopathy was sought to explain the slight microcytosis and hypochromia presented by the probands.</p> </abstract>