Sickle cell and thalassaemia screening programme lab support service

The purpose of the service is to provide technical and scientific support to UK Sickle Cell and Thalassaemia screening service via email and telephone advice lines and teaching/training days. The service is commissioned by the National Sickle Cell and Thalassaemia Screening Programme.

Who can access the service?

Most inquiries come from staff in haemoglobinopathy screening laboratories, but we are also very happy to answer queries from any other health professional requiring advice interpreting haemoglobinopathy laboratory results.

Things the service can help with

We can try to help with all aspects of the laboratory diagnosis of haemoglobinopathy (see FAQs below) but areas we are often asked about include:

• Interpretation of HPLC, FBC, results and electrophoresis results
• Interpretation of borderline results
• Information concerning alpha thalassaemia phenotypes/genotypes
• Information concerning HPFH/delta-beta thalassaemia phenotypes
• When partner testing should be recommended
• How results should be reported when the results are not clear cut
• When samples should be referred for further testing (e.g., mass spec or genetic testing)
• When results should be referred to clinical staff
• The clinical significance of rare haemoglobin variants

More details about the service and how it can be accessed can be obtained from the Sickle Cell and Thalassaemia screening programme website at www.sct.screening.nhs.uk/.

The lab support service can be contacted via email at lab.support@nhs.net  or by phone on 01865 572769.

Some reference materials can be found below:

Frequently Asked Questions (updated 2019)

Reasons for differing Haemoglobin variant percentage results in carriers

Elevated HbF levels overview

Elevated HbF levels - short notes

Useful links