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Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome
  1. Kritsada Singha,
  2. Goonnapa Fucharoen,
  3. Supan Fucharoen
  1. Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
  1. Correspondence to Supan Fucharoen, Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen 40002, Thailand; supan{at}kku.ac.th; Goonnapa Fucharoen, Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen 40002, Thailand ; goonnapa{at}kku.ac.th

Abstract

Interaction of βE-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 βE 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.

  • beta thalassemia
  • globin gene mutation
  • hemoglobin E
  • hemoglobin E-Udon Thani
  • molecular basis

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Footnotes

  • Handling editor Tahir S Pillay.

  • Contributors KS performed the laboratory investigations and wrote the initial manuscript. GF provided consultation and interpretation of the experiment findings, and read and edited the manuscript. SF is responsible for the study design, analysis and interpretation of the result, and edited and approved the final manuscript for submission.

  • Funding This work was supported by a grant from Khon Kaen University, Thailand. KS is supported by the postdoctoral training programme of the Graduate School of Khon Kaen University (Contract ID 59256), Thailand.

  • Competing interests None declared.

  • Patient consent Not required.

  • Ethics approval Ethical approval of the study was obtained from the Institutional Review Board of Khon Kaen University, Khon Kaen, Thailand (HE612242).

  • Provenance and peer review Not commissioned; externally peer reviewed.

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