Screening for haemoglobinopathies
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SCREENING FOR HAEMOGLOBINOPATHIES. 2000 - NSC Policy/NHS Plan for England “new national linked antenatal and neonatal screening programme for haemoglobinopathy and sickle cell disorder by 2004” 2001 - English NHS Sickle Cell and Thalassaemia Screening

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SCREENING FOR HAEMOGLOBINOPATHIES

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Screening for haemoglobinopathies

SCREENING FOR HAEMOGLOBINOPATHIES

2000 - NSC Policy/NHS Plan for England

“new national linked antenatal and neonatal screening programme

for haemoglobinopathy and sickle cell disorder by 2004”

2001 - English NHS Sickle Cell and Thalassaemia Screening

Programme Implementation Steering Group established

2002 - SEHD commissioned a Needs Assessment to inform policy

development in Scotland.

Wales - antenatal screening.

N.Ireland - newborn screening for SCD in 2010


Needs assessment

NEEDS ASSESSMENT

  • 1991 Census – approx 1.25% from ethnic minority populations

  • 2001 Census – approx 2.01% from ethnic minority populations

    - 62.3% increase from 1991

    - 1.3% total population increase

  • Uneven geographic distribution in Scotland

  • Asylum seekers

  • Estimated 3 cases of haemoglobinopathies (2 SCD and 1β thalassaemia) per year in Scotland

    BUT – situation changing significantly


Recommendations of needs assessment

RECOMMENDATIONS OF NEEDS ASSESSMENT

Antenatal Screening

  • Antenatal screening for haemoglobinopathies should be offered to all antenatal patients.

  • Universal screening for thalassaemia, based on formalising the assessment of routine RBC indices.

  • Standardised ancestry question should be developed to identify ‘high risk’ women.

  • Haemoglobin variant testing for high risk women.


Recommendations of needs assessment con t

RECOMMENDATIONS OF NEEDS ASSESSMENT Con’t

Neonatal Screening

  • A demonstration project of universal screening should be set up, offering bloodspot screening for SCD to all newborn babies in Scotland.

  • An ancestry question should be used to identify those infants in the population who are at low risk of SCD, and its effectiveness evaluated against the outcome of screening in all cases in the demonstration project.

  • The policy of universal screening should be reviewed when the accuracy and efficacy of the ancestry question has been evaluated with a view to deciding whether or not to adopt a selective testing policy or continuing with universal screening.


Recommendations of needs assessment con t1

RECOMMENDATIONS OF NEEDS ASSESSMENT Con’t

Other Recommendations

  • Development of appropriate clinical services (?MCN)

  • Ensure close integration with the current national Scottish pregnancy and newborn screening programmes.


Implementing haemoglobinopathy screening in scotland

IMPLEMENTING HAEMOGLOBINOPATHY SCREENING IN SCOTLAND

  • CEL issued 2008

    NHS Scotland to implement antenatal and newborn screening by April 2011

  • Implementation Group established under the aegis of NSD

    - close integration with developments in other programmes

  • Group have agreed to adopt English Family Origin Questionnaire and protocols

  • Mapping exercise carried out by NSD

  • Stakeholder Event


Purpose of today

PURPOSE OF TODAY

  • Experience and advice of English colleagues

  • Hear results of mapping exercise

  • Outline of Scottish plans and the challenges

  • Opportunity for discussion and sharing experience

  • Consultation opportunity


Issues to consider

ISSUES TO CONSIDER

  • Configuration of laboratories

  • Counselling arrangements

  • Clinical service development

    - paediatric

    - adult

  • Variable distribution/geography


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