Significant haemoglobinopathies: A guideline for screening and diagnosis

Barbara J. Bain; Yvonne Daniel; Joan Henthorn; Barbara de la Salle; Amanda Hogan; Noemi B. A. Roy; Ciaran Mooney; Lisa Langabeer; David C. Rees

doi:10.1111/bjh.18794

journal article Apr 19, 2023

Significant haemoglobinopathies: A guideline for screening and diagnosis

Barbara J. Bain

Yvonne Daniel Joan Henthorn Barbara de la Salle Amanda Hogan Noemi B. A. Roy

Ciaran Mooney Lisa Langabeer David C. Rees

British Journal of Haematology Vol. 201 No. 6 pp. 1047-1065 · Wiley

View at Publisher Save 10.1111/bjh.18794

Abstract

SummaryAntenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow‐up testing and referral, should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening Programme. All babies under 1 year of age arriving in the United Kingdom should be offered screening for sickle cell disease (SCD). Preoperative screening for SCD should be carried out in patients from ethnic groups in which there is a significant prevalence of the condition. Emergency screening with a sickle solubility test must always be followed by definitive analysis. Laboratories performing antenatal screening should utilise methods that are capable of detecting significant variants and are capable of quantitating haemoglobins A2 and F at the cut‐off points required by the national antenatal screening programme. The laboratory must ensure a provisional report is available for antenatal patients within three working days from sample receipt.

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References

Details

Published: Apr 19, 2023
Vol/Issue: 201(6)
Pages: 1047-1065
License: View

Authors

B

Barbara J. Bain

Centre for Haematology St Mary's Hospital Campus of Imperial College, St Mary's Hospital London UK

Y

Yvonne Daniel

Synnovis Guy's and St Thomas Hospital London UK; The NHS Sickle Cell and Thalassaemia (SCT) Screening Programme London UK

J

Joan Henthorn

The NHS Sickle Cell and Thalassaemia (SCT) Screening Programme London UK

B

Barbara de la Salle

UK NEQAS Haematology West Hertfordshire Hospitals NHS Trust Watford UK

A

Amanda Hogan

The NHS Sickle Cell and Thalassaemia (SCT) Screening Programme London UK

N

Noemi B. A. Roy

Department of Haematology Oxford University Hospitals NHS Foundation Trust Oxford UK

C

Ciaran Mooney

Department of Haematology St Vincent's Hospital Dublin Ireland

L

Lisa Langabeer

Department of Haematology Children's Health Ireland at Crumlin Dublin Ireland

D

David C. Rees

The NHS Sickle Cell and Thalassaemia (SCT) Screening Programme London UK; Department of Paediatric Haematology School of Medicine, King's College London, King's College Hospital London UK

Cite This Article

Barbara J. Bain, Yvonne Daniel, Joan Henthorn, et al. (2023). Significant haemoglobinopathies: A guideline for screening and diagnosis. British Journal of Haematology, 201(6), 1047-1065. https://doi.org/10.1111/bjh.18794

Significant haemoglobinopathies: A guideline for screening and diagnosis

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