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• >> Screening for sickle cell and beta thalassaemia >> Explaining genetics and risk >> Explaining genetics and risk

Explaining genetics and risk

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Explaining genetics and risk >> Explaining genetics and risk

Explaining genetics and risk

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• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 01 >> His partner and he had screening in pregnancy because they thought it was routine and just something everyone did.

His partner had routine screening in pregnancy and found she was a sickle cell carrier, so he also had carrier screening. Results unknown at time of interview. No family history.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 13 >> Even though they had a leaflet about the carrier screening test, they never believed they could be affected.

Routine pregnancy screening showed she is a carrier of beta thalassaemia, and that he carries haemoglobin E. They had amniocentesis, and the baby was unaffected. They would have had a termination if the baby was affected. Interview mainly in English with some brief discussion in Vietnamese.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 10 >> She believed it was the law that she had to have screening. She was upset to discover she was a carrier, but she thinks it is important to have the te

Mother discovered from antenatal screening she was a carrier of haemoglobin C. The baby's father was no longer in the UK to be screened. A newborn test showed the baby had SC disorder.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 21 >> She found out she was a beta thalassaemia carrier when she came to the UK from Pakistan to join her husband. He already knew he was a carrier. (Read b

Both partners knew they were beta thalassaemia carriers. Second child born with beta thalassaemia major. Mother has had CVS in two pregnancies since, and would terminate the pregnancy if the baby was affected. Video and audio clips read by an actor and recorded in Mirpuri.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 22 >> She was already pregnant and was screened on arrival to the UK. Her midwife confirmed she was a beta thalassaemia carrier. She realised that she had k

Discovered she was a beta thalassaemia carrier during her first pregnancy. Her husband was tested and is not a carrier. Their first daughter is a carrier. Video and audio clips read by an actor recorded in Urdu.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 04 >> She had known from childhood she was a sickle cell carrier. Others in her family were carriers but no-one had the condition.

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.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 12 >> She discovered by chance she was a sickle cell carrier when she changed HIV consultant and had new tests done.

Female partner discovered she was HIV positive when she came to the UK. When she changed HIV consultant, a routine blood test showed she was a sickle cell carrier. Male partner has not yet had carrier screening.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 22 >> They were worried at first when they discovered she was a beta thalassaemia carrier, but it was a relief when her husband's results showed he was not

Discovered she was a beta thalassaemia carrier during her first pregnancy. Her husband was tested and is not a carrier. Their first daughter is a carrier. Video and audio clips read by an actor recorded in Urdu.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 20 >> As there can be white sickle cell carriers, everyone ought to be tested. [Puisqu'il existe des porteurs de drépanocytose européens, on devrait tester

Mother asked for screening in pregnancy because of family history and found she was a sickle cell carrier. Newborn screening showed her baby was also a carrier. Her white partner has not been screened. some of the video and audio clips are in French.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 11 >> Her partner was reluctant to be screened during pregnancy. He could not believe there could be anything wrong with him.

Mother knew she was a sickle cell carrier; partner had screening late in pregnancy. She was shocked when the baby was born with sickle cell anaemia. Although the baby is well, she was so afraid of having another affected baby she ended her next pregnancy.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 19 >> In her second pregnancy she knew she was a carrier, but her then husband believed he could not be a carrier because he was so healthy. It was only in

Mother who knew she was a sickle cell carrier. Her partner believed he was not a carrier, but her third baby was born with sickle cell anaemia. In this pregnancy she had CVS; the baby is a carrier only.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 07 >> She thought her partner was not a sickle cell carrier but it turned out he was. She did not have enough information to help her before choosing a part

Mother has hameoglobin SC disorder; partner is a sickle cell carrier. Had CVS in two pregnancies. In third pregnancy chose not to have diagnosis; baby born with sickle cell anaemia and has since had a stroke, which the mother did not realise could happen.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 03 >> She wanted to avoid marrying a carrier, but did not realise that carriers are fit and healthy, so her husband was not tested until she was pregnant. (

Woman with haemoglobin SC disorder. Husband discovered he was a sickle cell carrier. Had CVS in all three pregnancies. The first and second babies had SC disorder, but the third had sickle cell anaemia. Video and audio clips read by an actor.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 14 >> She was upset by the letter telling her she was a sickle cell carrier, but the counsellor reassured her. [Elle était bouleversée par la lettre qui a d

Mother discovered she was a sickle cell carrier in her first pregnancy. Father is not a carrier. He later changed his name and was recalled for screening when she was pregnant again. Audio clips in French.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 05 >> She was shocked when she got a phone call to tell her she was a sickle cell carrier. She found it hard to take in what she was being told.

The couple discovered in pregnancy they were both sickle cell carriers. She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her baby will be healthy.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 13 >> They were given helpful counselling and information to understand their results. They also found a website which was really useful.

Routine pregnancy screening showed she is a carrier of beta thalassaemia, and that he carries haemoglobin E. They had amniocentesis, and the baby was unaffected. They would have had a termination if the baby was affected. Interview mainly in English with some brief discussion in Vietnamese.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 11 >> The sickle cell counsellors gave her good information about the condition and what to expect. She finds the internet useful, and a parent support grou

Mother knew she was a sickle cell carrier; partner had screening late in pregnancy. She was shocked when the baby was born with sickle cell anaemia. Although the baby is well, she was so afraid of having another affected baby she ended her next pregnancy.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 20 >> She asked for her daughter to have newborn screening. She was surprised that she was also a sickle cell carrier.

Mother asked for screening in pregnancy because of family history and found she was a sickle cell carrier. Newborn screening showed her baby was also a carrier. Her white partner has not been screened. some of the video and audio clips are in French.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 26 >> The counsellor explained what being a carrier meant and reassured them the baby was healthy.

The parents were shocked when newborn screening results showed the baby was a sickle cell carrier. Both parents were screened and the mother is also a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 18 >> She was so upset she couldn't see the information video about sickle cell anaemia through her tears. [Elle était si triste qu'elle ne pouvait pas voir

First baby diagnosed with sickle cell anaemia after birth. As a Christian, the mother chose not to have prenatal diagnosis in her next pregnancy. The second baby is a carrier. Her third baby is not a carrier. Video and audio clips in French.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 26 >> She wasn't sure if anyone needed to know they were carriers if she or the baby were ever ill.

The parents were shocked when newborn screening results showed the baby was a sickle cell carrier. Both parents were screened and the mother is also a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 02 >> She did not realise white people could be affected by sickle cell or beta thalassaemia until she discovered she was a carrier.

Discovered she was a beta thalassaemia carrier from routine screening during pregnancy. She was not aware she was being tested. Partner was tested and is not a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 09 >> People affected by sickle cell should speak out about it. It's not a shameful condition. (Read by an actor.)

Mother discovered she was a sickle cell carrier in pregnancy; the baby's father was reluctant to have screening. After the birth, she was shocked to discover the baby had sickle cell anaemia. Video and audio clips read by an actor.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 01 >> Professional learning: He felt screening in pregnancy was just a routine part of care. He would never have thought of having screening otherwise.

His partner had routine screening in pregnancy and found she was a sickle cell carrier, so he also had carrier screening. Results unknown at time of interview. No family history.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 13 >> Professional learning: At first they did not take carrier screening seriously. They'd never heard of the conditions and they never expected to discove

Routine pregnancy screening showed she is a carrier of beta thalassaemia, and that he carries haemoglobin E. They had amniocentesis, and the baby was unaffected. They would have had a termination if the baby was affected. Interview mainly in English with some brief discussion in Vietnamese.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 28 >> Professional learning: She was anaemic in pregnancy, and wonders if that was because she is a sickle cell carrier.

Newborn screening showed the baby was a sickle cell carrier. The mother had been tested years ago and told she wasn't affected, but a new test showed she was a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 14 >> Now she knows she is a sickle cell carrier she wonders if it makes her anaemic in pregnancy. [Maintenant qu'elle sait qu'elle est porteuse de la drépa

Mother discovered she was a sickle cell carrier in her first pregnancy. Father is not a carrier. He later changed his name and was recalled for screening when she was pregnant again. Audio clips in French.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 16 >> Professional learning: When she was first told about beta thalassaemia, she didn't realise how serious and life-threatening it was. (Video in Sylheti.

Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 28 >> Professional learning: It helped to have a diagram to explain inheritance, and reassure her that her children will not have sickle cell anaemia, becau

Newborn screening showed the baby was a sickle cell carrier. The mother had been tested years ago and told she wasn't affected, but a new test showed she was a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 02 >> Professional learning: Her midwife did not tell her much about her results, but the specialist counsellor explained everything in great detail, using

Discovered she was a beta thalassaemia carrier from routine screening during pregnancy. She was not aware she was being tested. Partner was tested and is not a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 06 >> Professional learning: She was very satisfied with the counselling she received. She had not realised what the risks were and it helped her decide to

During first pregnancy couple discovered they were both sickle cell carriers. CVS confirmed the baby did not have the condition and was not a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 05 >> Professional learning: When she was a child her family thought she had only a tiny amount of haemoglobin S which would disappear eventually.

The couple discovered in pregnancy they were both sickle cell carriers. She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her baby will be healthy.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 19 >> Professional learning: Her husband believed he could not be a carrier because he was fit and strong. She trusted in him.

Mother who knew she was a sickle cell carrier. Her partner believed he was not a carrier, but her third baby was born with sickle cell anaemia. In this pregnancy she had CVS; the baby is a carrier only.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 07 >> Professional learning: Her partner assured her he was not a sickle cell carrier but they discovered later he was.

Mother has hameoglobin SC disorder; partner is a sickle cell carrier. Had CVS in two pregnancies. In third pregnancy chose not to have diagnosis; baby born with sickle cell anaemia and has since had a stroke, which the mother did not realise could happen.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 11 >> Professional learning: Her partner did not understand that he could be a carrier and still be healthy.

Mother knew she was a sickle cell carrier; partner had screening late in pregnancy. She was shocked when the baby was born with sickle cell anaemia. Although the baby is well, she was so afraid of having another affected baby she ended her next pregnancy.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 20 >> Professional learning: Her white partner has never been offered screening.

Mother asked for screening in pregnancy because of family history and found she was a sickle cell carrier. Newborn screening showed her baby was also a carrier. Her white partner has not been screened. some of the video and audio clips are in French.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 12 >> Professional learning: She does not believe her white partner needs to be tested because she feels it is so unlikely he will be a carrier.

Female partner discovered she was HIV positive when she came to the UK. When she changed HIV consultant, a routine blood test showed she was a sickle cell carrier. Male partner has not yet had carrier screening.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 03 >> Professional learning: She takes an optimistic approach to risk, and just hopes things won't happen to her or her daughter. (Read by an actor.)

Woman with haemoglobin SC disorder. Husband discovered he was a sickle cell carrier. Had CVS in all three pregnancies. The first and second babies had SC disorder, but the third had sickle cell anaemia. Video and audio clips read by an actor.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 23 >> Professional learning: He sees a 25% risk as being like putting your child in the middle of a four-lane road, knowing a car will come along in one of

Couple knew before marriage they were beta thalassaemia carriers. His sister and two brothers died of beta thalassaemia major. They have tried pre-implantation genetic diagnosis to conceive a baby unaffected by the condition, so far without success. Video and audio clips read by actors.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 28 >> Professional learning: Getting results by telephone rather than a letter would still have been a shock but at least then you can ask questions straigh

Newborn screening showed the baby was a sickle cell carrier. The mother had been tested years ago and told she wasn't affected, but a new test showed she was a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 26 >> Professional learning: They received newborn screening results in a letter with a leaflet in which 'sickle cell' was highlighted. They would have pref

The parents were shocked when newborn screening results showed the baby was a sickle cell carrier. Both parents were screened and the mother is also a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 28 >> Professional learning: Being dyslexic, she finds reading long medical terms hard. She would have found it easier and less frightening to talk to someo

Newborn screening showed the baby was a sickle cell carrier. The mother had been tested years ago and told she wasn't affected, but a new test showed she was a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 05 >> Professional learning: Rather than getting results in a letter or a phone call, she would have been less worried to be told to come for an appointment

The couple discovered in pregnancy they were both sickle cell carriers. She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her baby will be healthy.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 17 >> Professional learning: She got a letter on the Saturday telling her the counsellor was coming on the Monday. She couldn't contact the counsellor to te

Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal beta thalassaemia and other variants >> Interview 17 >> Professional learning: When her second baby was born, she felt the consultant paediatrician talked to her as if she didn't know anything about being a

Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Newborn >> Interview 28 >> Professional learning: She would have liked to know before pregnancy that she was a carrier.

Newborn screening showed the baby was a sickle cell carrier. The mother had been tested years ago and told she wasn't affected, but a new test showed she was a carrier.

• Pregnancy & children >> Screening for sickle cell and beta thalassaemia >> Antenatal sickle cell >> Interview 09 >> Professional learning: It would be better if the NHS could screen people before they become pregnant. (Read by an actor.)

Mother discovered she was a sickle cell carrier in pregnancy; the baby's father was reluctant to have screening. After the birth, she was shocked to discover the baby had sickle cell anaemia. Video and audio clips read by an actor.