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Sickle cell disease (SCD)

Separation and identification of haemoglobin fractions to screen for SCD is carried out by high performance liquid chromatography (HPLC; ion exchange) using the BIORAD Variant NBS analyser. Any abnormal results are confirmed by second line testing using Isoelectric Focusing (IEF; performed by Specialist Haematology, MRI).

Local laboratory turnaround time standards (developed in 2012 following an audit):

  • L1: Receipt of sample in NBS Lab to referral of sample to haematology lab for isoelectric focusing - 3 working days.
  • L2: Receipt of sample in haematology lab to entry of IEF result into screening information system - 5 working days.
  • L3: Entry of IEF result into screening information system to printing of referral letters - 1 working day.

The Manchester Sickle Cell and Thalassaemia Centre (MSCTC) inform parents of positive screening results within 5 days of receiving the results or sooner if the baby is approaching 4 weeks of age. Clinical follow up of SCD positive patients is carried out by the Consultant Paediatric Haematologists at CMFT. Parents are informed of carrier results in person, by the Screening Link Health Visitor for their area.

For transfused babies, where no pre-transfusion sample is available, screening is completed by referring the sample for mutation analysis for Haemoglobin S.

For any high risk couples (1 in 4 risk of a significant haemoglobinopathy), a Manchester 'at risk' pregnancy alert form should be completed by maternity and sent to the screening lab and the Manchester Sickle Cell Centre.

Download the Manchester 'at risk' pregnancy alert form