A personal experience of this autosomal recessive condition.
Tony has sickle cell disease (SCD) and his story raises a number of issues. Tony talks about the varying symptoms experienced and the effect of the disease on his life and that of his family. He talks about the difficulties experienced around pain management, due to a lack of awareness by nursing and medical staff.
Point for reflection
- Tony talks about how the lady came round and talked to him and his sister. In your opinion, was this done appropriately? Are there any issues around ethical practice that arise from this action? How could the information have been given to Tony and his sister differently?
- If you have contact with patients with sickle cell disease, what has been your experience of pain management? Reflect on ways in which it may be possible to improve pain management in your own practice?
- How could this story change your current practice?
- How would you manage the episodes of pain as described by Tony? Visit the Map of Medicine Sickle cell disease – management of acute complications web pages for more information about the management of painful crises (http://healthguides.mapofmedicine.com/choices/pdf/sickle_cell_disease2.pdf).
- What type of information would you provide to Tony’s sister regarding reproductive choices?
The provision of relevant information could help Tony’s sister make an informed decision about her reproductive choices. Here are some points you might want to think about:
taking and drawing her family history and talking about how sickle cell disease has been passed on in her family
explaining the chances of her carrying a baby who might be affected, which would also depend on carrier status of her partner
discussing testing for carrier status of her partner, if this is unknown, before she plans to have a child
discussing the options around prenatal diagnostic testing for sickle cell disease during pregnancy to confirm whether a foetus has the condition, and the option of termination of an affected foetus.
Read Merry France-Dawson’s account: "Some observations about my life with a sickle cell condition". In: Marteau T, Richards M (eds) The troubled helix Cambridge University Press, Cambridge, p47-50. Merry describes, 'living by instalments' as her prognosis was frequently revised.
Quotes to reflect upon
"...I was about 21 years old when a lady came around and explained to me what would happen in the future and all that kind of stuff. That shocked me. It really did because I just thought I would grow out of it."
"...I can just always remember that day with my sister crying. Devastating news. Devastating news. Just something inside seemed to have snapped basically. Couldn’t believe it. Couldn’t believe it."
"Unless you’ve dealt with that patient constantly, nobody believes that you can be in that much pain."
- Sickle Cell Society UK website - http://www.sicklecellsociety.org.uk/
- UK National Library for Health, Genetic Conditions Specialist Library website: Sickle cell briefing - http://www.library.nhs.uk/genepool/ViewResource.aspx?resID=143175&tabID=290&catID=8930
- US National Library of Medicine, Genetics Home Reference website: Sickle cell - http://www.ghr.nlm.nih.gov/condition=sicklecellanemia/
- US Department of Energy’s Gene Gateway website: Genetic Disease Profile - sickle cell anaemia - http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml
- Brent (The North West London hospitals NHS Trust) sickle cell & thalassaemia centre website:
- Sickle cell for health professionals - http://www.sickle-thal.nwlh.nhs.uk/ForHealthcareProfessionals/SickleCellForHealthCareProfessionals.aspx
- Midwives' focus on sickle cell - http://www.sickle-thal.nwlh.nhs.uk/ForHealthcareProfessionals/MidwivesFocusSickleCell.aspx
- Inheritance of Haemoglobin - http://www.sickle-thal.nwlh.nhs.uk/Blood/InheritanceOfHaemoglobin.aspx
- Management of People with Sickle Cell Disease - http://www.sickle-thal.nwlh.nhs.uk/ForHealthcareProfessionals/ManagementPeopleWithSickleCellDisease.aspx
- Patient UK website: Sickle Cell Disease and Sickle Cell Anaemia - http://www.patient.co.uk/health/Sickle-Cell-Disease-and-Sickle-Cell-Anaemia.htm
The NHS Sickle Cell and Thalassaemia Screening Programme website (http://sct.screening.nhs.uk/) 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:
- Standards for the linked antenatal and newborn screening programme - http://sct.screening.nhs.uk/standardsandguidelines
- Screening for sickle cell and thalassaemia - knowledge updates - http://sct.screening.nhs.uk/knowledgeupdate
- Translated information in other languages and formats - http://sct.screening.nhs.uk/cms.php?folder=3153
- Leaflets and Factsheets - http://sct.screening.nhs.uk/leaflets
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 (http://www.screening.nhs.uk/sct-compare) for more information.
- NHS Choice – Map of Medicine website provides useful information about sickle cell disease (SCD):
- Management of acute complications - http://healthguides.mapofmedicine.com/choices/pdf/sickle_cell_disease2.pdf
- Primary care - http://healthguides.mapofmedicine.com/choices/pdf/sickle_cell_disease1.pdf
- Basic management and disease modification - http://healthguides.mapofmedicine.com/choices/pdf/sickle_cell_disease3.pdf
How does this story relate to professional practice?
[We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here]
Tony’s story highlights many areas of practice that the health professional should aim to be confident in demonstrating, but the key ones are as follows:
The importance of knowing how to obtain and interpret a family history to assess who might also be at risk of a genetic condition, as his sister also suffers from the sickle cell. This is reflected in NCG 1.
Tony talks about the usefulness of having information about his condition shared, although this did not occur until the age of 21. This has had a major impact on his life and that of his sister and family. Health professionals must be mindful of the impact the providing genetic information can have on individuals and their family (NCG 5).
Through gaining information about the condition, Tony was able to understand what could be done to limit how he is affected by the symptoms associated with sickle cell disease. A health professional who understands the role of genetics in maintaining health (NCG 4) is able to support their clients more fully. For example, this might include an awareness of the manifestation of the disease as sickle cell crisis, the accompanying extreme pain and associated vulnerability to infection.
Content relating to the midwifery competencies in genetics will appear here shortly.
Learning Outcomes for GPs
Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.