Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome. Issue 4 (10th January 2019)

• Record Type: Journal Article
• Authors: Singha, Kritsada; Fucharoen, Goonnapa; Fucharoen, Supan
• Is Part Of: Journal of clinical pathology. Volume 72:Issue 4(2019)
• Page Start: 322
• Page End: 324
• Publication Date: 2019-01-10
• Subjects: beta thalassemia -- globin gene mutation -- hemoglobin E -- hemoglobin E-Udon Thani -- molecular basis; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2018-205525
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Interaction of β E -globin gene with an in trans β-thalassaemia gene leads to thalassaemia syndrome, known as haemoglobin (Hb) E-β-thalassaemia disease, with variable clinical and haematological severity. Here, we reported for the first time the Hb E-β-thalassaemia syndrome caused alternatively by an in cis interaction of β E and a novel IVSI#7;A>G mutation, namely the Hb E-Udon Thani (HBB:c.[79G>A;92+7 A>G]). The syndrome was found in an adult Thai man (32) who was generally healthy but had an unexplained hypochromic microcytosis. Hb analysis identified heterozygous Hb E with very low Hb E expression (3.1%) and elevated Hb A2 (5.7%). Final diagnosis was made on DNA analysis, which confirmed a double mutation in a single β-globin gene of the patient. A multiplex allele-specific PCR assay was developed for use in the screening of this novel form of Hb E-β-thalassaemia in the population.