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Screening and Diagnosis

A special blood test can detect either haemoglobinopathy disorders or carriers. All that is required is 4 ml of blood in EDTA (0.3-1 ml for infants). Your GP can arrange this. Blood tests can also be arranged in antenatal clinics if no previous testing has been carried out.

If a person falls into any of the following categories a haemoglobinopathy screen may be indicated:

  • is of a Minority Ethnic Group (Non Northern European origin/Ancestry)
  • has a blood-related family member who has been diagnosed with a haemoglobinopathy trait or disorder
  • has a partner from a Minority Ethnic Group
  • has a Family History of anaemia (unexplained)
  • haemoglobinopathy diagnosed/suspected in their partner
  • is adopted.

GPs / HCPs should send off a blood sample requesting the following analysis:

3-4mls venous blood in EDTA marked for “Haemoglobinopathy screen”

  • full blood count
  • haemoglobin A2 quantitation (HbA2)
  • haemoglobin F quantitation (Hb F)
  • haemoglobin Electrophoresis
  • serum ferritin (may need separate sample)

 


Contacting the service

The service is available Monday to Friday between 08:45 and 17:15. There is a limited out of hours service that can be arranged through Haematology Registrars and the UHW Switchboard on 029 2074 7747.

 

For advice on haemoglobinopathy counselling and referral please contact the team on:

Tel: 02921 833283 or 02920 742577

Email: se.genetics@wales.nhs.uk

 

For advice and arrangements for testing or reports please contact Hannah Taylor, hannah.taylor@wales.nhs.uk, tel: 029 2074 3302 (office), or the Haemoglobinopathy.laboratory.CAV@wales.nhs.uk, Tel: 029 2074 3302 (laboratory).

This laboratory also performs G-6-PD screening and haptoglobin estimations.

Urgent Sickle solubility screening and Haemoglobin S and F levels (for known sickle cell disease patients) are available by pre-arrangement outside of these hours by contacting the OOH Haematology BMS on Bleep 5288 / 5289 or Tel: 029 2074 6477 / 5087.

Urgent G-6-PD assays can by performed out of these hours, however must be pre-arranged and coordinated with the OOH haematology BMS and Haematology registrar on Bleep 6207.