Screening for sickle cell and beta thalassaemia

Interview 08

Female
Age at interview: 26

Brief outline: Mother tested in first pregnancy and discovered she was a beta thalassaemia carrier. Husband was also tested and is not a carrier. Both their daughters are carriers. Interview translated into English from original in Urdu and Mirpuri.

Background: Housewife, married to a restaurant owner, two children aged 6 and 3. Ethnic background/nationality' Pakistani.

Audio & video

This mother was tested during her first pregnancy as part of her routine antenatal care, and discovered she was a beta thalassaemia carrier. Her husband then went for partner screening, because they knew if they were both carriers there was a risk that their children might have beta thalassaemia major and be very ill. They were both upset and worried at first, but once the husband was found not to be a carrier they felt reassured. Both their daughters have had newborn screening, and both are also beta thalassaemia carriers like their mother. One of the girls sometimes feels a bit tired and listless, but they have no serious health problems and just take care to eat healthily.

The mother believes screening and antenatal diagnosis are useful to help parents prepare for the possibility that they may have a child with beta thalassaemia major. However, as a Muslim she feels it would be wrong to terminate the pregnancy if the unborn baby were affected.

Before arranging a marriage for their daughters, the couple would want to check first if the man was also a carrier. They would not want to go ahead with the marriage in this case.

Interview translated into English from original in Urdu and Mirpuri.

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