This is the first of a series of Blogs written by Debbie Omodele, Children’s Haemoglobinopathy Nurse Specialist, Barking, Havering and Redbridge University Hospital NHS Trust. Keep an eye out for follow ups on topics such as preconceptual screening, managing conditions, psychological well-being, pain management and transition looking at the importnace of family wihtin this process. Enjoy.
Shining the light on Sickle cell on Rare disease day
History
Although Sickle Cell Disorder (SCD) is classified as one of the 7000 rare diseases globally, it is more common than you might think. There are approximately 15,000 people in the United Kingdom and 800 people in Ireland with a diagnosis of SCD [1, 2]. With an increase in ‘mixed race’ families and immigration, SCD remains the fastest-growing genetic condition globally [3].
It predominantly affects people from African and Caribbean ancestry, however, it can be found across all ethnic groups. Though SCD was officially reported in 1910, a huge gap in knowledge still exists which has contributed to the widely reported inconsistencies in healthcare and disease management [4,5,6].
What is sickle cell disorder?
SCD is a group of inherited disorders that affect red blood cells (RBC) due to abnormal haemoglobin. Haemoglobins are proteins that carry oxygen to various tissues and organs in the body. RBCs with normal haemoglobins are round and flow easily through blood vessels. This normal haemoglobin is called haemoglobin A (HbA) and last for 120 days in circulation [7].
Individuals with SCD have inherited abnormal haemoglobin (haemoglobin S) where their haemoglobin becomes sticky when they lose oxygen. This results in the RBCs with sickle haemoglobin becoming stiff transforming the shape of the RBCs into a crescent moon or a sickle shape. These RBCs stick to blood vessel walls blocking blood flow and preventing oxygen delivery to various tissues and organs in the body, causing pain. When this happens, it is known as a sickle cell crisis where the pain ranges from mild to severe.
The stiffness of these sickled cells makes the RBCs fragile, resulting in those that contain sickle haemoglobin living for approximately 20-30 days in circulation. This reduces the number of RBCs in circulation resulting in chronic anaemia [7].
How is it diagnosed?
Diagnosis of sickle cell disease can be via a newborn screening programme. Although not available in all countries, the United Kingdom (UK) Northern Ireland, France, Spain, and the Netherlands offer screening programmes via a heel prick blood test from baby at day 5. SCD could also be diagnosed antenatally or via a blood sample for a test that measures and identifies various types of haemoglobin (haemoglobinopathy electrophoresis).
How is Sickle Cell Disorder managed?
Early diagnosis is crucial as it helps with starting treatment as soon as possible. Babies diagnosed with SCD are recommended to start penicillin from the age of 3 months as research has shown that reduces the risk of serious infections [8].
SCD damages the spleen, which removes certain bacteria from the blood, so penicillin protects against serious infections caused by pneumococcal bacteria. [9]. In most cases, treatment is directed at relieving symptoms and preventing complications with supportive therapies such as hydroxycarbamide and blood transfusions. Bone marrow transplant is currently the only curative therapy where a closely matched donor is required. Additional pneumococcal vaccinations (Pneumovax) are also an essential part of managing SCD [1]. It is important for patients to know their triggers, limit exposure and adopt healthy lifestyle choices. Complications, common triggers and management will be covered in more detail in future blog posts.
Why is awareness important?
Shining the light on SCD on rare disease day helps debunk myths and breaks the health-related stigma attached to SCD. Also, recognising the impact SCD has on families will encourage nurses to adopt a family nursing approach when planning and providing care.
There is a link between improved care provision and improved health outcomes for patients with SCD, therefore, there is an urgent need to address the current lack of inclusion of SCD in educational institutions. Including SCD in the nursing and medical curriculum would be a step towards closing the knowledge gap among healthcare professionals. Engaging various communities in Sickle Cell campaigns, raising awareness events and blood donation drives, builds an inclusive dialogue, contributing to a positive and sustainable mindset shift.
References
- Sickle Cell Disease in Childhood: Standards and Recommendations for Clinical Care (2019) https://www.sicklecellsociety.org/resource/paediatricstandardsresource/
- European Commission- Ireland: Stigma and lack of specialised medical services for migrant and ethnic minority patients with sickle cell disease (2022) https://ec.europa.eu/migrant-integration/news/ireland-stigma-and-lack-specialised-medical-services-migrant-and-ethnic-minority-patients_en
- Biswas T. Global burden of sickle cell anaemia is set to rise by a third by 2050 BMJ 2013; 347:f4676 doi:10.1136/bmj.f4676
- No One’s Listening: An Inquiry Into The Avoidable Deaths And Failures Of Care For Sickle Cell Patients In Secondary Care https://www.sicklecellsociety.org/wp-content/uploads/2021/11/No-Ones-Listening-Final.pdf
- Savitt T.L, (2014) Learning About Sickle Cell: The Patient in Early Sickle Cell Disease Case Reports, 1910–1933. Journal of the National Medical Association, Volume 106, Pages 31-41, https://doi.org/10.1016/S0027-9684(15)30068-7
- Lee L, Smith-Whitley K, Banks S, Puckrein G. Reducing Health Care Disparities in Sickle Cell Disease: A Review. Public Health Reports. 2019 Nov/Dec;134(6):599-607. doi: 10.1177/0033354919881438. Epub 2019 Oct 10. PMID: 31600481; PMCID: PMC6832089.
- Piel FB, Steinberg MH, Rees DC. Sickle Cell Disease. The New England Journal of Medicine. 2017;376(16):1561-1573. doi:10.1056/NEJMra1510865.
- Oligbu G, Collins S, Sheppard C, Fry N, Dick M, Streetly A, Ladhani S. Risk of Invasive Pneumococcal Disease in Children with Sickle Cell Disease in England: A National Observational Cohort Study, 2010-2015. Archives of Diseases in Childhood (2018); 103:643-7. DOI: 1136/archdischild-2017-313611
- Cober MP, Phelps SJ. Penicillin prophylaxis in children with sickle cell disease. J Paediatric Pharmacology Therapies. 2010;15(3):152-159.