Significant haemoglobinopathies: A guideline for screening and diagnosis A British Society for Haematology Guideline

被引:16
|
作者
Bain, Barbara [1 ,9 ]
Daniel, Yvonne [2 ,3 ]
Henthorn, Joan [3 ]
de la Salle, Barbara [4 ]
Hogan, Amanda [3 ]
Roy, Noemi B. A. [5 ]
Mooney, Ciaran [6 ]
Langabeer, Lisa C. [7 ]
Rees, David [3 ,8 ]
BSH Comm
机构
[1] St Marys Hosp Campus Imperial Coll, St Marys Hosp, Ctr Haematol, London, England
[2] Synnovis, Guys & St Thomas Hosp, London, England
[3] NHS Sickle Cell & Thalassaemia SCT Screening Progr, London, England
[4] West Hertfordshire Hosp NHS Trust, UK NEQAS Haematol, Watford, England
[5] Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England
[6] St Vincents Hosp, Dept Haematol, Dublin, Ireland
[7] Childrens Hlth Ireland Crumlin, Dept Haematol, Dublin, Ireland
[8] Kings Coll London, Kings Coll Hosp, Sch Med, Dept Paediat Haematol, London, England
[9] British Soc Haematol, 100 White Lion St, London N1 9PF, England
关键词
genetic disorders; haemoglobinopathies; laboratory haematology; sickle cell anaemia; sickle cell disease; thalassaemia; DISEASE;
D O I
10.1111/bjh.18794
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Antenatal 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 A(2) 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.
引用
收藏
页码:1047 / 1065
页数:19
相关论文
共 50 条
  • [1] Guideline for the diagnosis and management of marginal zone lymphomas: A British Society of Haematology Guideline
    Walewska, Renata
    Eyre, Toby A.
    Barrington, Sally
    Brady, Jessica
    Fields, Paul
    Iyengar, Sunil
    Joshi, Anurag
    Menne, Tobias
    Parry-Jones, Nilima
    Walter, Harriet
    Wotherspoon, Andrew
    Linton, Kim
    BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (01) : 86 - 107
  • [2] A guideline for the diagnosis and management of polycythaemia vera. A British Society for Haematology Guideline
    McMullin, Mary Frances
    Harrison, Claire N.
    Ali, Sahra
    Cargo, Catherine
    Chen, Frederick
    Ewing, Joanne
    Garg, Mamta
    Godfrey, Anna
    Knapper, Steven S.
    McLornan, Donal P.
    Nangalia, Jyoti
    Sekhar, Mallika
    Wadelin, Frances
    Mead, Adam J.
    BRITISH JOURNAL OF HAEMATOLOGY, 2019, 184 (02) : 176 - 191
  • [3] Diagnosis and evaluation of prognosis of myelofibrosis: A British Society for Haematology Guideline
    McLornan, Donal P.
    Godfrey, Anna L.
    Green, Anna
    Frewin, Rebecca
    Arami, Siamak
    Brady, Jessica
    Butt, Nauman M.
    Cargo, Catherine
    Ewing, Joanne
    Francis, Sebastian
    Garg, Mamta
    Harrison, Claire
    Innes, Andrew
    Khan, Alesia
    Knapper, Steve
    Lambert, Jonathan
    Mead, Adam
    McGregor, Andrew
    Neelakantan, Pratap
    Psaila, Bethan
    Somervaille, Tim C. P.
    Woodley, Claire
    Nangalia, Jyoti
    Cross, Nicholas C. P.
    McMullin, Mary Frances
    BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (01) : 127 - 135
  • [4] A guideline for the haematological management of major haemorrhage: a British Society for Haematology Guideline
    Stanworth, Simon J.
    Dowling, Kerry
    Curry, Nikki
    Doughty, Heidi
    Hunt, Beverley J.
    Fraser, Laura
    Narayan, Shruthi
    Smith, Juliet
    Sullivan, Ian
    Green, Laura
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 198 (04) : 654 - 667
  • [5] Guideline for the treatment of chronic lymphocytic leukaemia: A British Society for Haematology Guideline
    Schuh, Anna H.
    Parry-Jones, Nilima
    Appleby, Niamh
    Bloor, Adrian
    Dearden, Claire E.
    Fegan, Christopher
    Follows, George
    Fox, Christopher P.
    Iyengar, Sunil
    Kennedy, Ben
    McCarthy, Helen
    Parry, Helen M.
    Patten, Piers
    Pettitt, Andrew R.
    Ringshausen, Ingo
    Walewska, Renata
    Hillmen, Peter
    BRITISH JOURNAL OF HAEMATOLOGY, 2018, 182 (03) : 344 - 359
  • [6] A British Society for Haematology Guideline on the diagnosis and management of chronic myeloid leukaemia
    Smith, Graeme
    Apperley, Jane
    Milojkovic, Dragana
    Cross, Nicholas C. P.
    Foroni, Letizia
    Byrne, Jenny
    Goringe, Andy
    Rao, Anupama
    Khorashad, Jamshid
    de Lavallade, Hugues
    Mead, Adam J.
    Osborne, Wendy
    Plummer, Chris
    Jones, Gail
    Copland, Mhairi
    BRITISH JOURNAL OF HAEMATOLOGY, 2020, 191 (02) : 171 - 193
  • [7] The management of myelofibrosis: A British Society for Haematology Guideline
    McLornan, Donal P.
    Psaila, Bethan
    Ewing, Joanne
    Innes, Andrew
    Arami, Siamak
    Brady, Jessica
    Butt, Nauman M.
    Cargo, Catherine
    Cross, Nicholas C. P.
    Francis, Sebastian
    Frewin, Rebecca
    Garg, Mamta
    Godfrey, Anna L.
    Green, Anna
    Khan, Alesia
    Knapper, Steve
    Lambert, Jonathan
    McGregor, Andrew
    McMullin, Mary Frances
    Nangalia, Jyoti
    Neelakantan, Pratap
    Woodley, Claire
    Mead, Adam
    Somervaille, Tim C. P.
    Harrison, Claire N.
    BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (01) : 136 - 150
  • [8] Diagnosis and management of mantle cell lymphoma: A British Society for Haematology Guideline
    Eyre, Toby A.
    Bishton, Mark J.
    Mcculloch, Rory
    O'Reilly, Maeve
    Sanderson, Robin
    Menon, Geetha
    Iyengar, Sunil
    Lewis, David
    Lambert, Jonathan
    Linton, Kim M.
    Mckay, Pamela
    BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (01) : 108 - 126
  • [9] Guideline for the Management of Conception and Pregnancy in Thalassaemia Syndromes: A British Society for Haematology Guideline
    Shah, Farrukh T.
    Nicolle, Sarah
    Garg, Mamta
    Pancham, Shivan
    Lieberman, Gidon
    Anthony, Karen
    Mensah, Amma Kyei
    BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (06) : 2194 - 2209
  • [10] Guidelines on the diagnosis and management of Waldenstrom macroglobulinaemia-A British Society for Haematology guideline
    Pratt, Guy
    El-Sharkawi, Dima
    Kothari, Jaimal
    D'Sa, Shirley
    Auer, Rebecca
    McCarthy, Helen
    Krishna, Rajesh
    Miles, Oliver
    Kyriakou, Charalampia
    Owen, Roger
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 197 (02) : 171 - 187