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Before Patrick’s child was born, he was worried whether his child could inherit sickle cell disease from him. What type of information would you provide for a couple today in similar circumstances to Patrick and his wife?
Patrick talks about the psychological impact on his condition of worrying about it. He also talks about the difficulties of planning ahead. What other difficulties are associated with living with a long term condition such as Patrick’s? What support could you offer?
1. Go to the NHS National Genetics Education and Development Centre website and find the document ‘Taking and Drawing a Family History’. Sickle cell disease runs in Patrick’s family. Using this information and the information given in his story, draw Patrick’s family pedigree.
2. If Patrick’s wife had been a carrier, what would have been the chance of them having (a) an affected child and (b) a child who is a carrier of sickle cell disease? Click here to check your answers.
3. Go to the National Institutes of Health (National Heart, Lung and Blood Institute) online clinical guide to find out more about the management of sickle cell disease. This is a free 206-page book informed by US policy and practice, and chapter 10 (p59-74) specifically focuses on pain management.
4.Midwives need to collect information on family origins for all pregnant women by completing the Family Origin Questionnaire. Patrick was told that the chance of his wife carrying a baby with sickle cell disease is very low, as she is Welsh. People with family origins from which countries are considered at low risk for the condition? Click here to check your answers; low risk countries are listed on page 2.
"They wanted to see the doctor and when they saw the doctor the doctor told them you all haven’t got the medical knowledge so we can’t explain."
"Oh when I found out that the child won’t be affected it was relief because I wouldn’t wish the sickle cell pain on my enemy."
"I was glad they didn’t have it because up to now I tell them don’t think you are going to be able to adjust to life if you all had sickle cell."
"The nurses, well they didn’t know nothing at all like. They just do what the doctor tells them you know."
Your Genes, Your Health website
US National Library of Medicine, Genetics Home Reference website - sickle cell
NHS Choices sickle cell disease
NHS Evidence, genetic conditions - sickle cell disease
Brent (The North West London hospitals NHS Trust) Sickle Cell & thalassaemia Centre website:
Patient UK website: Sickle Cell Disease and Sickle Cell Anaemia.
The NHS Sickle Cell and Thalassaemia Screening Programme website provides useful information about sickle cell disease, thalassaemia and other haemoglobin disorders, the various tests offered to people at different stages of life, and the development of screening and care for people with haemoglobin disorders. Below are some useful links on the site:
There are variations in antenatal screening policy across the UK. For example, in England and Scotland, screening for sickle cell disease in pregnancy is offered to all pregnant women irrespective of their family origin; however, in Wales it is only offered to women with a higher chance of carrying the condition. In Northern Ireland no such policy decision has been made yet. Go to the: UK National Screening Committee website for more information.
NHS Choice – Map of Medicine website provides useful information about sickle cell disease (SCD):