Screening for sickle cell and beta thalassaemia

Interview 30

Age at interview: 37

Brief outline: Mother discovered through screening in pregnancy that she carries Haemoglobin D Punjab. Her husband is not a carrier. Newborn screening showed her second baby is also a carrier. Video and audio clips in Urdu.

Background: Secretary of own business, husband runs own business. Two children aged 3 years and 18 months. Ethnic background/nationality' Pakistani.

Audio & video

This mother had screening in her first pregnancy and was told she was a carrier of haemoglobin D Punjab. Her husband was reluctant to be tested because he does not like needles, and neither of them was particularly worried. Her husband was tested after the baby was born and was found not to be a carrier. Her first daughter was also found not to be a carrier. 

In the mother's second pregnancy, the counsellor came to her home and explained a lot more about D Punjab. At first the mother was puzzled by the name 'D Punjab' as she herself is not from the Punjab. However, the counsellor explained that this was just a name, and it did not have anything to do with where the person comes from. She also explained that it is not an illness and the mother and baby will not be affected by being carriers. The second baby is a carrier of Hb D Punjab. 

The mother feels glad that she has found out more and that she knows her second daughter is a carrier. It will be important to tell her when she is older, especially when choosing a partner and making sure the partner is not a sickle cell carrier. The combination of D Punjab and sickle cell genes could cause problems for children born to that couple, as each child would have a one in four chance of having a sickle cell disorder called haemoglobin SD.

She feels it is important for parents to take responsibility for their children's health and find out as much as they can. Although she would never consider terminating a pregnancy affected by a condition like Hb SD disorder, if you know it is a risk and you can prevent it that is what she would do - either by not marrying another carrier or by avoiding having any further children if both partners find they are carriers.


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