Received:1 January 2023Accepted:24 March 2023D0L:10.1111/bjh.18794BJHaemGUIDELINESignificant haemoglobinopathies:A guideline for screening anddiagnosisA British Society for Haematology GuidelineBarbara J.Bain'Yvonne Daniel23 Joan Henthorn Barbara de la SalleAmanda Hogan Noemi B.A.Roy Ciaran Mooneys Lisa Langabeer?David C.Rees38on behalf of the BSH CommitteeCentre for Haematology.St Mary's HospitalCampus ofImperialCollege,St Mary'sSummaryHospital,London,UKAntenatal screening/testing of pregnant women should be carried out according toSynnovis,Guy's and St Thomas Hospital.the guidelines of the National Health Service(NHS)Sickle Cell and ThalassaemiaLondon,UKThe NHS Sickle Cell and Thalassaemia(SCT)Screening Programme.Newborn screening and,when necessary,follow-up testingScreening Programme,London.UKand referral,should be carried out according to the guidelines of the NHS SickleUK NEQAS Haematology.WestCell and Thalassaemia Screening Programme.All babies under 1year of age arriv-Hert fordshire Hospitals NHS Trust,Watford,ing in the United Kingdom should be offered screening for sickle cell disease(SCD).UKPreoperative screening for SCD should be carried out in patients fromethnic groupsDepartment of Haematology.Oxfordin which there is a significant prevalence of the condition.Emergency screening withUniversity Hospitals NHS Foundation Trust,Oxford,UKa sickle solubility test must always be followed by definitive analysis.LaboratoriesDepartment of Haematology,St Vincent'sperforming antenatal screening should utilise methods that are capable of detectingHospital,Dublin,Irelandsignificant variants and are capable of quantitating haemoglobins A,and F at theDepartment of Haematology,Children'scut-off points required by the national antenatal screening programme.The labora-Health Ireland at Crumlin,Dublin,Irelandtory must ensure a provisional report is available for antenatal patients within threeDepar tment of Paediatric Haematology.working days from sample receipt.School of Medicine,King's College LondonKing's College Hospital,London,UKKEYWORDSCorrespondencegenetic disorders,haemoglobinopathies,laboratory haematology,sickle cell anaemia,sickle cellBSH Guidelines Administrator,Britishdisease,thalassaemiaSociety for Haematology,100 White LionStreet,London N1 9PF,UK.Email:bshguidelines@b-s-h.org.ukOBJECTIVESabnormality,such as anaemia or microcytosis;(iii)to iden-tify an abnormality in the presymptomatic phase,as in neo-Disorders of globin chain synthesis,both thalassaemia andnatal screening;(iv)to identify foetuses at risk of significanthaemoglobin variants,are common in the United Kingdomhaemoglobinopathies and offer the parents in formed choice;and constitute a significant public health problem.Diagnosis(v)to permit genetic counselling of prospective parents;(vi)may be required:(i)to confirm a provisional clinical diag-to identify the presence of sickle cell haemoglobin preoper-nosis,such as sickle cell disease (SCD)or B thalassaemiaatively.Improved fully
