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


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


  • 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://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