Sickle Cell and Thalassaemia

The UK National Screening Committee (UK NSC) recommends all eligible pregnant women in England are offered screening for sickle cell and thalassaemia and all newborn babies are offered screening for sickle cell disease as part of the NHS Newborn Blood Spot Screening Programme (NHS NBS).

Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia. People with sickle cell disease produce unusually shaped red blood cells that can cause problems because they do not live as long as healthy blood cells and can block blood vessels. Sickle cell disease is a serious and lifelong health condition, although treatment can help manage many of the symptoms.

Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin. People with thalassaemia produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. This can make them very anaemic (tired, short of breath and pale). There are different types of thalassaemia, which can be divided into alpha and beta thalassaemias. Beta thalassaemia major is the most severe type.

The NHS sickle cell and thalassaemia screening programme offers screening to all pregnant individuals, including biological fathers where antenatal screening shows the pregnant individual is a genetic carrier. There are also special circumstances where additional investigations may be required, including for example, if either biological parent is adopted or has had bone marrow transplant or stem cell transplant.

The programme screens for genetic carriers for sickle cell, thalassaemia and other haemoglobin disorders.

Screening tests

The following screening tests may be offered:

• a blood test for pregnant individuals and biological fathers
• a family origin questionnaire (FOQ)
• a heel prick test for newborn babies (newborn bloodspot)

For more information Sickle cell and thalassaemia screening standards valid for data collected from 1 April 2018 

We collect data on sickle cell and thalassaemia from various sources, including prenatal testing laboratories and Specialist Haemoglobinopathy Teams (SHTs) in England, to enable the programme to report on a number of NHS SCT screening programme standards. This data enables the programme to monitor the effectiveness of the screening pathway and highlights where quality improvements may be required.