1. Pregnancy & Newborn Screening Developments
Newborn Screening for Sickle Cell Disorders

2. What are the haemoglobinopathies?
The Haemoglobinopathies are common inherited blood conditions, they mainly affect people who have originated from Africa, the Caribbean, the Middle East, Asia and the Mediterranean, but are also found in the northern European population
The most commonly recognised are the sickle disorders and the thalassaemias 2

3. Sickle Cell Disorders What are they?
Blood disorders which affect the structure of haemoglobin
Sickle blood cell
Image reference:
Normal blood cell
Image reference: 3

4. Sickle Cell Disorders Who do they affect?
Can affect anyone from any population
More common in people of African, Caribbean, Middle Eastern, and Asian ancestry
How are individuals affected?
Red blood cells "sickle" when they are short of oxygen, causing anaemia, risk of life-threatening infections, unpredictable attacks of severe pain (crises), morbidity, mortality
How is the condition managed?
Information for family on risk factors – dehydration, heat, cold, infection, stress
Prophylactic antibiotics from early age
Regular clinic attendance
Specialist clinical care
Rapid access to medical help in emergency 4

5. Conditions Screened for:
Antenatal (Carrier)
Hb-AS
Hb-AC
Hb-ADPunjab
Hb-AE
Hb-AOArab
Hb-A Lepore
 thalassaemia trait 
δ-thalassaemia trait
αo thalassaemia trait
HPFH
Newborn (Conditions)
HbSS
HbSC
HbSD
Hb-SDPunjab
HbS/ß thalassaemia
HbS OArab
HbS/HPFH
HbSE 5

6. How are Sickle Cell Disorders inherited
Inherited by both parents passing on an altered gene
When a mother and a father both carry an altered gene for sickle cell, every time they have a baby there is:
25% (one in four) chance that their baby will not be a carrier or have sickle cell disorder
50% (two in four) chance that their baby will be a carrier
25% (one in four) chance that their baby will have a sickle cell disorder 6

7. Why screen for Sickle Cell Disorders
Early detection in newborn babies and appropriate management improves quality of life
Parents can be taught to avoid risk factors that trigger painful ‘crisis’ attacks in baby/child
Babies should be commenced on penicillin and pneumococcal vaccine by 3 months of age
Children with a sickle cell disorder are 600 times more likely to get a pneumococcal infection than other children
It is strongly recommended that penicillin is given throughout childhood and carried on into adulthood
Thalassaemia disorders not screened for at birth
Limited expression of ß-globin genes at birth
Limitations of the analytical procedures available 7

8. Linked Pregnancy & Newborn Programme
Vital for Scottish Newborn Screening Laboratory to know parents carrier status – therefore must be recorded on bloodspot card
Testing babies born to at-risk couples
Important to know parents’ carrier status when dealing with newborn results
Important to remember that Beta Thalassaemia may not be detected from newborn bloodspot 8

9. Transfused Babies
Babies who receive a blood transfusion prior to Sickle Cell screening will require a repeat test at 4 months post transfusion. This also includes intrauterine transfusions.
Therefore it is strongly recommended that a pre-transfusion blood spot specimen is obtained from all babies in SCBU or NNU for SCD screening.
Obtain one spot on admission to unit and mark as pre-transfusion. Then send to lab with the 5 day sample if baby receives a transfusion

10. Sickle Cell Carriers
Babies who are sickle cell carrier will be detected through the screening programme (approx 170 cases per year)
Carriers inherit one altered gene that makes sickle haemoglobin S and one gene that makes usual haemoglobin A – HbAS
Carriers will never have a sickle cell disorder. They will always be a healthy carrier
However parents need to know to:
Inform health care professionals before child undergoes surgery/anaesthetic
Take extra care if their child might be in a situation involving a lack of oxygen i.e. high-altitude mountaineering
It is important that parents tell their child about being a carrier so that if they want to plan a family of their own they can suggest a blood test for their partner. If their partner is also a carrier there is a chance that their baby could inherit a sickle cell disorder
GP will be informed of babies who are carriers so they can offer referral to genetic counselling 10

11. Useful Links www.pnsd.scot.nhs.uk
Sickle Cell Disease – A parent’s guide
NHS Sickle cell & thalassaemia screening programme
Results of newborn blood spot screening leaflets: