Sickle Cell Disorders (SCD) are autosomal recessive conditions that affect the normal oxygen carrying capacity of red blood cells. The screening programme for Sickle Cell Disorders (SCD) aims for early detection of SCD to allow treatment to begin as soon as possible leading to improved outcomes for children. In addition, early diagnosis offers parents more reproductive choice by informing them of their carrier status prior to subsequent pregnancies.
SCD affect the normal oxygen carrying capacity of red blood cells due to a change in the biochemistry of haemoglobin. When deoxygenated, red blood cells are unable to pass freely through capillaries and instead form clusters, which block blood vessels. This blockage prevents oxygenation of the tissues in the affected areas resulting in tissue hypoxia and consequent intense pain (known as sickle cell crisis).
The NHS Board Haemoglobinopathy Referral Pathways outlines the referral pathways in the event that the Scottish Newborn Screening Laboratory identifies a positive Sickle Cell Disorder case or a carrier.
The presence of transfused blood (including that of exchange transfusions) in the neonate will interfere with the interpretation of the results from the haemoglobin analysis of the blood spot and possibly invalidate the results. A pre transfusion blood spot sample should therefore be obtained if a baby is to be transfused prior to collection of the routine (day 5) blood spot sample, otherwise follow the routine newborn bloodspot screening pathway.
The following information leaflets and guide are available for parents and can be downloaded from the UK Newborn Screening Programme website:
- Results of Newborn Blood-Spot screening Carrier of a sickle cell gene – sometimes called trait Hb AS
- Results of Newborn Blood-Spot screening Carrier of a gene for an unusual haemoglobin – sometimes called trait Hb AC, Hb AD, Hb AOArab, Hb AE, Hb A Lepore
- A Parents Guide to Sickle Cell Disease
Useful contacts
Sickle Cell Society
54 Station Road
London, NW10 4UA
020 8961 7795
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