Sickle Cell Disease History of Sickle Cell Disease The original mutation was of West African lineage, where it has the highest prevalence- Ghana, Sierra Leone, Nigeria. Other countries of high population Mediterranean,Sub-Saharan India Caribbean.- malarial areas of the world. In Western Medicine 1904 - Walter Clement Noel, a dental student, from Grenada, West Indies travelled to the USA, presented with severe respiratory distress and a leg ulcer, which we now know are classic presentations of Sickle Cell Disease. It was then seen by Dr Earnest E. Irons by a routine blood test and urine analysis, where the red blood cells appeared elongated and pear shaped 1910 - It was first described Dr James Herrick the supervisor to Dr Ernest Irons, as he described the blood cells “peculiar, elongated and sickle shaped red blood corpuscles in a case of severe anaemia” 1915 - other cases presented and established a pattern for further observations where families and siblings were dying and or becoming more ill. These presentations made it obvious that it was GENETIC 1922 - Dr V.R Mason names the disease Sickle Cell Anaemia, he also recognised that all the patients presented were BLACK/African Descent- which then gave the initially misconception that sickle cells originated from people only from Africa. In the UK 1 in 2,400 (per annum) babies are born with sickle cell disease or a haemoglobinopathy. What is Sickle Cell Disease HAEMOGLOBINOPATHIES Sickle Cell Disease Are a group of hereditary or genetic disorders, which alters the structure of haemoglobin, which results in reduced oxygen carrying capacity blood to tissues and organs. Thalassaemia G6PD Sickle Cell Disease This disease affects the erythrocytes, red blood cells, that becomes crescent shaped (more of a sickled garden tool),hard and sticky. How Sickle Cell Disease is diagnosed Genetic Testing is often mandated prior to marriage in some communities to ensure the disease isn’t passed on. Genetic Counselling: Amniocentesis- usually done in the first trimester Chronic Villus Sampling Other Testing In adults- a blood test is drawn from the veins and electrophoresis is done to determine the genotype if haemoglobinopathy is present As part of the newborn screening ALL babies are given a “Newborn Screening Test aka Heel Prick, this would be given if parents decline genetic testing prior to conception or during antenatal visits Issues caused by Sickle Cell Disease: Overall- Crisis Anaemia Pains- chronic and acute Dactylitis/ Osteomyelitis - swollen legs & toes, hands & fingers/ can be confused in a crisis. Frequent Infections Acute Chest Syndrome Delayed Growth Vision Problems- retinopathy, punctal stenosis, macular degeneration Infertility- both genders Priapism- very painful and a medical emergency Splenomegaly- enlarged spleen Renal dISEASE (acute) Avascular Necrosis Fever Jaundice Breathlessnes Pains- chronic and acute Clubbing of digits Blotchy skin/ nail beds Abdominal swelling Urine infections Complications of Sickle Cell Disease: Stroke Early Onset Menopause Blindness Leg Ulcers Gallstones Pulmonary Hypotension Organ Damage Priapism Complicated Pregnancies Mental Health Holistic Effects of Sickle Cell Disease: Tiredness Apathy Mood Swings Constant Hibernation/ Reclusive Reduced Appetite/ Extreme Eating Unable to complete Activities of Daily Living Lack of Faith/ Self-Esteem Financial struggles/ consistent employment Changes to weather Stress/WORRY Breakdown in relationships/ support systems Lack of consistent advocacy Intimacy Mental Health Fear of Blindness/ Permanent Disability/ Death Possible Treatment and Management of Sickle Cell Disease Treatment is aimed at avoiding or reducing crises, relieving symptoms and preventing complications. This may include: Analgesia - paracetamol, codeine, morphine, voltarol enemas Antibiotics-prophylaxis/ preventative for infection: usual penicillin based PenV, Amoxicillin Vitamins- Folic Acid, Ferrous Sulphate,Vit B12, Vitamin D Nutrition/ Hydration Hydroxyurea- daily dosage which helps to reduce reduce crises and reduces need for blood transfusions (CYTOTOXIC PROPERTIES) requires monitoring and prescribed by specialist teams Blood Transfusion - Exchange Transfusion a more extensive transfusion, where donated blood is filtered and transfused whilst removing sickled red blood cells. Top Up Transfusion or regular transfusion (these can cause iron overload, which will need intervention aka CHELATION) Bone Marrow Transplant- aka stem cell transplant. Finding a donor is often difficult for many reasons Gene Therapy VACCINATIONS Childhood vaccinations are important Hepatitis group Pneumococcal Annual Flu Covid -19 vaccinations as of June 2021- defined as Clinically Extremely Vulnerable Other Investigations for Sickle Cell Disease Frequent Blood tests- Liver Function, Renal,HbF%, platelet count, Reticulocytes Annual eye tests Lung Function Tests Cardiology/ Echocardiogram Sexual Health Screens Psychology Dental Orthopaedics Course Recordings - Norma Watson Living Well with Sickle Cell About Norma Watson Click Here Sickle Cell in the Media https://stedmood.ru/news/uk-england-london-52753482 https://twitter.com/BBCNews/status/1441291985998974976 https://www.sicklecellsociety.org/resource/bbc-breakfast-gaps-in-sickle-cell-care-and-awareness/ https://www.youtube.com/watch?v=63pgiclvChc https://www.bbc.co.uk/news/av/newsbeat-58599462 https://news.sky.com/story/richard-okorogheye-new-images-released-of-missing-student-last-seen-on-bus-in-west-london-1226120 3 Information for Health Care Professionals https://www.sicklecellsociety.org/ https://www.sctsp.org.uk/home https://www.england.nhs.uk/atlas_case_study/group-clinics-for-parents-of-children-with-sickle-cell-anaemia/ https://www.sicklecellsociety.org/wp-content/uploads/2018/11/Im-In-Crisis-A-SCTAPPG-Report.pdf https://spiral.imperial.ac.uk/bitstream/10044/1/28116/1/Aljuburi-G-2015-PhD-Thesis.pdf https://www.unison.org.uk/motions/2017/black-members/why-sickle-cell-matters/ Manage Cookie Preferences