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New challenges in diagnosis of haemoglobinopathies: Migration of populations

John Old, Adele Timbs, Janice McCarthy, Alice Gallienne, Melanie Proven, Michelle Rugless, Herminio Lopez, Jennifer Eglinton, Dariusz Dziedzic, Matthew Beardsall, Mohamed S.M. Khalila, Shirley Henderson
  • Adele Timbs
    John Radcliffe Hospital, Oxford, United Kingdom
  • Janice McCarthy
    John Radcliffe Hospital, Oxford, United Kingdom
  • Alice Gallienne
    John Radcliffe Hospital, Oxford, United Kingdom
  • Melanie Proven
    John Radcliffe Hospital, Oxford, United Kingdom
  • Michelle Rugless
    John Radcliffe Hospital, Oxford, United Kingdom
  • Herminio Lopez
    John Radcliffe Hospital, Oxford, United Kingdom
  • Jennifer Eglinton
    John Radcliffe Hospital, Oxford, United Kingdom
  • Dariusz Dziedzic
    John Radcliffe Hospital, Oxford, United Kingdom
  • Matthew Beardsall
    John Radcliffe Hospital, Oxford, United Kingdom
  • Mohamed S.M. Khalila
    John Radcliffe Hospital, Oxford, United Kingdom
  • Shirley Henderson
    John Radcliffe Hospital, Oxford, United Kingdom

Abstract

The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel haemoglobinopathy mutations to the diagnostic repertoire of a laboratory, often creating new pressures to improve and update the carrier screening technology and diagnostic scope. For antenatal screening programmes, the marriage of partners from different ethnic groups can lead to the risk of compound heterozygote children being born novel mutation combinations, creating problems in the provision of accurate advice regarding the expected phenotype of the thalassaemia or haemoglobinopathy disorder. In the UK, the impact of immigration required the National Haemoglobinopathy Reference laboratory to change the strategy and techniques used for the molecular diagnosis of thalassaemia and the haemoglobinopathies. In 2005, due to the increasingly large range of β-thalassaemia mutations that needed to be diagnosed, the laboratory switched from a three-step screening procedure using ARMS-PCR to a simpler but more expensive one-step strategy of DNA sequencing of the beta and alpha globin genes for all referrals. After ten years of employing this strategy, a further 57 novel thalassaemia and haemoglobionpopthy alleles were discovered (11 new β-chain variants, 15 α-chain variants, 19 β-thalassaemia mutations and 12 α+-thalassaemia mutations), increasing further the extremely heterogeneous spectrum of globin gene mutations in the UK population.

Keywords

Thalassemia; Hemoglobinopathies.

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Submitted: 2018-04-11 15:03:16
Published: 2018-04-19 10:14:15
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Copyright (c) 2018 John Old, Adele Timbs, Janice McCarthy, Alice Gallienne, Melanie Proven, Michelle Rugless, Herminio Lopez, Jennifer Eglinton, Dariusz Dziedzic, Matthew Beardsall, Mohamed S.M. Khalila, Shirley Henderson

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