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Sickle cell and thalassaemia screening: commission and provide

These documents set out guidance for commissioning and offering sickle cell and thalassaemia screening.

Provide sickle cell and thalassaemia screening

These documents follow the screening pathway, supporting the activities at each stage of the process.

The handbook for sickle cell and thalassaemia screening sets out the actions for health professionals at each stage of the screening pathway.

The laboratory handbook sets out the actions for laboratories across the whole pathway.

The ‘Screening tests for you and your baby’ booklet explains the NHS antenatal and newborn screening programmes.

Commission screening

Commissioners can use the service specification to create a consistent screening pathway.

Antenatal screening

The screening pathway varies slightly depending on if the hospital trust is in a high or low prevalence area for sickle cell and thalassaemia.

Healthcare professionals can use the high and low prevalence trusts document to see which pathway to use.

The Family Origin Questionnaire (FOQ) assesses the likelihood of a person being a genetic carrier by looking at their ancestry and family origins. The form includes guidance for use in both high and low prevalence areas.

In rare cases, screening can find a woman with a previously unknown haemoglobin condition. The sickle cell and thalassaemia screening care pathway sets out the procedures to refer her for clinical and obstetric management.

Where screening identifies the expectant woman as a carrier:

The next step for a healthcare professional is to offer the baby’s biological father a screening test using the template invitation letter and tests for dads leaflet.

Healthcare professionals may need to obtain the father’s contact details from the mother. The guidance on contacting men provides advice on this step.

If the father is not available or declines screening, offer the mother counselling and prenatal diagnosis. All professionals who offer counselling should have an in depth knowledge of haemoglobin disorders and the practical application of genetics in health care.

This includes prenatal diagnosis and genetic counselling.

If screening shows that the father is also a carrier, refer the couple for counselling and offer an explanation of prenatal diagnosis.

Give the couple the relevant booklet explaining the risk for their baby and the choices available:

  • risk of sickle cell

  • risk of thalassaemia

Prenatal diagnosis

Provide carrier couples with information about prenatal diagnosis (PND).

Healthcare professionals offering PND should follow the guidelines for referring PND samples to molecular haemoglobinopathy laboratories.

Where PND shows the baby has a haemoglobin disorder, refer the couple for counselling.

Follow guidance from newborn blood spot screening to link the antenatal PND result to newborn screening .

Newborn screening

The Newborn Blood Spot screening programme sets out guidelines for offering SCT screening to newborn babies.

If the baby has received a blood transfusion before screening, follow the guidance set out in the DNA tests for transfused babies document.

If newborn screening shows the baby has sickle cell disease, follow the procedures in the sickle cell and thalassaemia screening care pathway with the service specification to refer them into care services.

Where screening shows the baby is a carrier, use the guidelines for reporting newborn screening results to inform the parents.

Give the parents the relevant leaflet:

  • baby is sickle cell carrier

  • baby carries unusual haemoglobin

Quality assurance

There is a national framework for all quality assurance processes across screening.

Within this framework, there are a number of specific activities that relate to SCT screening.

Standards

The standards for SCT screening document explains how to provide linked antenatal and newborn screening for sickle cell and thalassaemia. It also sets out the required standards to achieve and how they are monitored.

Managing incidents

There are national guidelines for reporting and managing incidents in NHS population screening.

Key performance indicators

There is a process across screening for setting and measuring Key Performance Indicators.

Failsafe

Each screening programme has specified failsafe mechanisms, to help identify people who are not screened, or whose samples are not processed correctly. These back-up mechanisms support routine screening.

If something goes wrong, the failsafe will identify the problem and specify an action to put it right and ensure a safe outcome.

The newborn outcomes project tracks babies identified with a haemoglobin condition into care services, to evaluate the linked antenatal and newborn screening programme.

Data collection

All screening providers need to record data about their activity. The national quality assurance programme provides guidance on the data to provide and ways to provide it.

Screening laboratories collect data to meet the set screening standards and use the data collection templates to submit the information to the screening programme.

Two forms are available for data collection for antenatal screening, to reflect different care pathways in high and low prevalence areas. Use the list of trusts and their prevalence to see the correct form to use.

The newborn laboratory data form is for collecting data from newborn blood spot screening.

Annual data reports

The annual data report evaluates the performance of screening each year. This document sets out the performance of:

  • antenatal SCT screening

  • newborn SCT screening

  • prenatal diagnosis testing for SCT

Equitable access

Everyone who is invited for screening should understand the test, what it is looking for, the results they may get and the choices that can arise.

The equitable access to screening document explains how national screening programmes can ensure everyone can reach screening services and benefit from them.

The SCT equality scheme provides programme-specific guidance.

The (SCT) screening programme runs a programme of public education and outreach to support at-risk populations. to inform people about the conditions and the screening offer.

Plan and run individual programmes with the community outreach good practice guide.

Reasons for implementing outreach programmes, and how they work, are described in the:

  • outreach overview

  • outreach resources

  • community outreach research

Screening into care

People diagnosed with sickle cell or thalassaemia can expect care that meets national standards.

Care practices are different for adults and children and the standards documents set this out accordingly.

Healthcare professionals can use these documents to commission care and explain the procedures on how to live with sickle cell disease or thalassaemia.

The health services for people with haemoglobin disorders document sets out the quality standards for clinical care.

  1. Sickle cell disease: managing the condition

    • Promotional material
  2. Sickle cell disease: description in brief

    • Promotional material
  3. Beta thalassaemia major: description in brief

    • Promotional material
  4. Sickle cell disease in children: standards for clinical care

    • Guidance
Published 1 January 2012
Last updated 4 August 2017 + show all updates
  1. Added link in antenatal screening section to guidance on contacting fathers for screening.
  2. Added 'Sickle cell and thalassaemia screening: outcome data', 'Sickle cell and thalassaemia screening: outcome data collection template' and removed 'Newborn outcomes project: definition and implementation' and 'Newborn outcomes project: data collection templates'.
  3. Replaced out of date antenatal failsafe document with new guidance on checks and audits.
  4. Added of new amniocentesis and CVS diagnostic test leaflet to collection.
  5. First published.