Consultation on Newborn Screening for Thalassaemia
While there is not a specific newborn Screening Programme for Thalassaemia in the UK at present, four thalassaemias that may be clinically significant (β-thalassaemia major, β-thalassaemia intermedia, and Hb E/ β-thalassaemia, and Hb H disease), are detected as 'by-products' of newborn screening for sickle cell disease, using the newborn blood spot.
The 2011 report by Allaby and Pittam independently reviews the case for newborn screening for the four thalassaemias detected as 'by-products' of newborn screening for sickle cell disease. The report leaves it open as to whether these conditions meet the NSC criteria, except in the case of HbH disease which is not considered to meet the criteria.
Key stakeholders were invited to comment on the report and contribute feedback on the issues.
Comments were collected until 21 March 2012 and you can read read responses from those happy to make their views public here.
Newborn screening for thalassaemia was discussed at UK NSC meeting in April 2012. Draft minutes from this meeting including policy statement is available here, (relevant section 5.21 to 5.29)
Policy update is available here.
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