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GEM - thalassaemia disease and sickle cell disease - clinical cases

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team


This module has been produced as part of a collaboration between GPnotebook and the NHS National Screening Committee.

With respect to thalassaemia disease:

  • Scenario 1:
    • Antenatal thalassaemia screening Shakira is a 23 year old Pakistani girl who comes to see you after having her pregnancy confirmed by a urine test at the chemist. Her sister has told her that she needs to be tested for thalassaemia as Shakira's sister carries the blood disorder.

    • What is thalassaemia?
    • How is thalassaemia inherited?
    • What does it mean to carry thalassaemia?
    • How can the doctor detect carrier states?
    • What is the carrier state in different communities?
    • If Shakira was a carrier what should the doctor do next?
    • Why is it important to have the blood test as early as possible in pregnancy?
    • What is the antenatal screening policy for thalassaemia?
    • How would you handle the situation if Shakira could not speak English?

With respect to sickle cell disease:

  • Helen is a 28 year old "white" woman who lives in rural Devon. During the second trimester of her pregnancy, the midwife completed a family origins questionnaire and noted that her family originated from Africa. She was due to have a screening blood test to see if she carried a thalassaemia or sickle cell disorder but the request form was misplaced. Her partner, Steve is of Jamaican origin. A week after the heel prick test, the preliminary results suggested that their baby had a sickle cell disorder. The health visitor informs you of the results and she visits the couple with the local specialist haemoglobinopathy counsellor to explain the results. An urgent referral to the paediatric haematologist is organised.

    • What are the sickle cell disorders?
    • How are the conditions managed?
    • How are the sickle cell disorders inherited?
    • What does it mean to carry a sickle cell disorder?
    • How can the doctors interpret the screening blood tests for the sickle cell carrier states?
    • What is the frequency of the sickle cell carrier state in different communities?
    • What is the screening policy for sickle cell disorders?
    • What is the family origin questionnaire?
    • How could Helen and Steve been made aware earlier of their reproductive risk of a child with a sickle cell disorder?
    • Why is it important to have the blood test as early as possible in pregnancy?
    • What is your role in neonatal screening?
    • What opportunities for significant event auditing arise from this scenario?

Pegasus (Professional Education for Genetic Assessment and Screening) provides detailed information related to Sickle cell disease and Thalassaemia:

This GEM is based on material provided by:

  • Nadeem Qureshi
  • Senior Clinical Lecturer
  • Graduate Entry Medical School
  • Derby City General Hospital

and members of the NHS National Screening Committee.

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