What are the recommended screening protocols for thalassaemia in at-risk populations in the UK?

In the United Kingdom, thalassaemia screening is integrated into the Sickle Cell and Thalassaemia (SCT) Screening Programme, which screens for genetic carriers of thalassaemia and other haemoglobin disorders, as well as thalassaemia itself NICE CKS.

• Screening for Pregnant Women:
  • All pregnant women are offered screening for thalassaemia NICE CKS.
  • In high-prevalence areas (where 2% or more of booking bloods are screen positive), screening is typically offered before 10 weeks of pregnancy NICE CKS.
  • In low-prevalence areas (where less than 1% of booking bloods are screen positive), the Family Origin Questionnaire (FOQ) is used as an initial screening tool to identify if the woman or biological father is at high risk of being a carrier NICE CKS. If either parent is identified as high-risk, a screening blood test for haemoglobin variants must be offered to the woman NICE CKS. Women and biological fathers from low-risk family origins can opt for screening if they request it NICE CKS.
  • Biological fathers are also screened if the mother is a genetic carrier for thalassaemia NICE CKS.
  • A list of high and low prevalence trusts is available on the GOV.UK website NICE CKS.
• Newborn Screening:
  • All newborn babies are screened for sickle cell disease as part of the Newborn Blood Spot Screening Programme, usually at 5 days old NICE CKS.
  • Infants younger than 1 year who have newly arrived in the UK or have not yet had a blood spot test are also screened NICE CKS.
• Other At-Risk Populations and Scenarios:
  • People from high-risk groups who are about to undergo an operation or receive anaesthesia should be screened NICE CKS.
  • Women who are having assisted conception or are being investigated for infertility should be screened NICE CKS.
  • Women in high-risk groups for haemoglobinopathies should be screened before conception; if an abnormality is found, their partners should be offered testing NICE CKS.
  • Pre-marriage screening for beta-thalassaemia heterozygosity may be acceptable for some religious or ethnic groups, although it is not standard practice in the UK NICE CKS.
• Ethnic Backgrounds and Genetic Risk:
  • Alpha thalassaemia is more common in people of Southeast Asian, African, West Indian, and Mediterranean descent NICE CKS.
  • Beta thalassaemia is more common in people of Mediterranean, Asian, Middle Eastern, Hispanic, and West Indian descent NICE CKS.
  • Ideally, carrier screening and counselling should be performed before pregnancy to allow couples to understand their reproductive risk and consider all options NICE CKS.
  • If a woman is a beta-thalassaemia carrier and her partner is also a carrier of an unusual haemoglobin gene, testing for the baby is advised NICE CKS.
• Diagnostic Aid:
  • The Family Origin Questionnaire (FOQ) is also used to help interpret screening results, particularly for possible alpha or beta thalassaemia NICE CKS.