NHS Sickle cell and thalassaemia screening 

Programme aims

Pre-conceptual screening

Both parents should routinely be offered testing for SCD and Thalassaemia before referring for fertility treatment because if they are carriers they may opt for preimplantation genetic diagnosis

Antenatal screening

Timely antenatal sickle cell and thalassaemia (SCT) screening to all women (and couples) to facilitate informed decision-making.

FBC AND Haemoglobinopathy screen (+/- ferritin)

Performed by 12 w + 6d

If mother is carrier, then father is offered testing, +/- test fetus

If both parents are found to be carriers they should be offered prenatal diagnostic testing by 12w+6d

Newborn screening

We aim to achieve the lowest possible childhood death rate and to minimise childhood morbidity from sickle cell disease.

Part of 9 conditions screened via newborn blood spot screening programme

1. Congenital Hypothyroidism CHT

2. Sickle Cell Disease SCD (tests for Sickle Cell Disease, Sickle Cell carrier status, Thalassaemia major, but does not test for Thalassaemia carrier status)

3. Cystic Fibrosis CF

4. Medium Chain Acyl-CoA Dehydrogenase Deficiency MCADD

5. Phenylketonuria PKU

6. Maple Syrup Urine Disease MSUD

7. Isovaleric acidaemia IVA

8. Glutaric Aciduria type 1 GA1

9. Homocystinuria HCU

Infants and children affected by Thalassaemia major (e.g. Hb B0 B0)

Regular blood transfusions from 3 months of age

Specialist chelation therapy to avoid complications of iron overload

Splenomegaly, bony deformity (bossing of skull, thinning long bones)

Bone marrow transplant is curative

Infants and children affected by SCD (e.g. Hb SS)

Long-term penicillin

Vaccinations: Hib, meningitis C, pneumococcal, influenza, hepatitis B

Supportive treatment during sickling crises

Low Hb levels 80-90, high reticulocytes

Individuals who are Sickle Cell Carriers (e.g. Hb AS)

Mostly asymptomatic

Avoid very low levels of oxygen (high altitude, caution at anaesthesia)

Increased risk of renal medullary cancer

Infants and children affected by Thalassaemia trait (heterozygous alpha or beta)

Mild hypochromic anaemia, ferritin is normal, no response to iron

Supportive treatment

Secondary care specialist treatment