This module has been produced as part of a collaboration between GPnotebook and the NHS National Screening Committee.
With respect to thalassaemia disease:
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.
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.