Screening for sickle cell and beta thalassaemia

Interview 04

Age at interview: 35

Brief outline: Mother knew she was a sickle cell carrier; husband was re-tested when their son was diagnosed with SC disorder, and found he was a haemoglobin C carrier. Child is doing well. Pregnant again at time of interview, no further testing.

Background: Full-time mother (formerly secretary), married to a doctor, one child aged 5, pregnant. Ethnic background/nationality' Nigerian.

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This mother knew before getting married that she was a sickle cell carrier. Her husband had been tested previously and had been told he was not a sickle cell carrier, so they thought if they got married and had children together there would be no problem. 

The couple waited a long time to have their son. Their first pregnancy ended in miscarriage at 5 months, and then their second baby was born prematurely at 28 weeks and died after a few days. The third pregnancy also miscarried at four and a half months. Finally their fourth pregnancy went to term and their son was born. He was born in the UK, and had newborn screening for sickle cell, but before the test results arrived the family had moved back to Nigeria. The test results were forwarded to them by other members of their family still in the UK. 

They were shocked to discover that the baby had a sickle cell disorder called haemoglobin SC. The husband was re-tested and found he was also a carrier of haemoglobin C. Haemoglobin SC disorder is usually less severe than sickle cell anaemia, and their son has been doing very well with few health problems, apart from sometimes getting a very high fever.   

In their next pregnancy they decided they would not have any diagnostic testing to see if this baby also had haemoglobin SC disorder. The results would make no difference to them because they had already decided they wanted to continue the pregnancy. Having had several miscarriages already, they did not want to have the extra small risk of miscarriage from having a CVS or amniocentesis. They draw strength from their Christian faith.


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