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
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