Overview
A child who seems perfectly healthy at birth can, months or years later, suddenly develop severe pain, swollen hands, or a dangerously swollen spleen, the first visible signs of a condition they were actually born with. Sickle cell disease is one of the most common serious genetic conditions in the world, and nowhere is its impact felt more than in sub-Saharan Africa, home to nearly 80 percent of everyone living with it.
Disease Summary
- Category
- Non-Communicable Disease
- Cause
- A mutation in the HBB gene causing abnormal haemoglobin (haemoglobin S), inherited when a child receives the sickle gene from both parents
- Transmission
- Not applicable; sickle cell disease is a genetic condition inherited at conception, not spread through contact
- Body System
- Blood
- Preventable
- Yes
- Curable
- No
Symptoms
Common Symptoms
Symptoms can vary widely between individuals, and severity often changes over a person's lifetime.
Pain Episodes (Crises)
Sudden, severe pain, often in the bones, joints, chest, or abdomen, caused by blocked blood flow. Episodes can last hours to days.
Anaemia
Ongoing fatigue, weakness, and pale skin, since sickle-shaped cells break down faster than the body can replace them.
Swelling in the Hands or Feet
Known as dactylitis, this is often the very first sign in infants and young children.
Frequent Infections
Damage to the spleen makes serious infections, including pneumonia, more common and more dangerous.
Delayed Growth
Children with sickle cell disease may grow and reach puberty more slowly than their peers, largely due to chronic anaemia.
Danger Signs
Seek emergency medical attention immediately if any of the following develop.
Sudden Weakness, Confusion, or Difficulty Speaking
Can indicate a stroke, a well-documented and serious complication of sickle cell disease, particularly in children.
Severe Chest Pain with Fever or Difficulty Breathing
Can indicate acute chest syndrome, a life-threatening emergency.
Sudden Severe Abdominal Pain or Rapid Swelling
Can indicate the spleen has suddenly trapped a large amount of blood, a life-threatening emergency, especially in young children.
Prolonged, Painful Erection
Known as priapism, this needs emergency treatment to prevent permanent damage.
Diagnosis
Newborn Screening
A simple blood test soon after birth can detect sickle cell disease before symptoms begin, allowing preventive care to start early.
Haemoglobin Electrophoresis
The definitive test, separating different types of haemoglobin to confirm the presence of haemoglobin S.
Complete Blood Count
Supports the diagnosis by showing the pattern of anaemia typical of sickle cell disease.
Laboratory Tests
Haemoglobin Electrophoresis
Separates different haemoglobin types to confirm sickle cell disease and distinguish it from sickle cell trait.
Complete Blood Count (CBC)
Shows the degree of anaemia and helps monitor overall health over time.
Sickle Solubility Test
A rapid screening test that can suggest sickle cell disease, though it needs confirmation with haemoglobin electrophoresis.
Genetic Testing
Can confirm the specific gene mutation, useful for family planning and prenatal counselling.
Treatment
Preventive Care
Daily antibiotics and routine vaccination significantly reduce the risk of serious infection in young children, whose spleens are often affected early.
Hydroxyurea
A medication that reduces how often pain crises occur by encouraging the body to produce a form of haemoglobin that does not sickle.
Prevention
Consider genetic counselling before pregnancy
Knowing whether both partners carry the sickle cell trait allows couples to make informed decisions about family planning.
Prioritise newborn screening
Detecting sickle cell disease at birth allows preventive care, like antibiotics and vaccination, to begin before serious complications develop.
Stay up to date on vaccinations
Vaccines against pneumococcal and meningococcal infections are especially important given the increased infection risk.
Stay hydrated and avoid extreme temperatures
Dehydration, extreme cold, high altitude, and intense exertion can all trigger a pain crisis.
Risk Factors
Who Is Affected
Sickle cell disease occurs when a child inherits the sickle gene from both parents.
- Both parents carrying the sickle cell trait
- A family history of sickle cell disease or sickle cell trait
Higher Prevalence
Sickle cell trait, and therefore sickle cell disease, is more common in some populations.
- People with family origins in sub-Saharan Africa, where nearly 80 percent of cases occur
- People with family origins in the Mediterranean, Middle East, or India
Triggers for Complications
These can bring on a pain crisis or worsen symptoms in someone who already has sickle cell disease.
- Dehydration
- Extreme cold or high altitude
- Infection or intense physical exertion
Complications
Stroke
Blocked blood flow to the brain can cause lasting neurological damage, particularly in children.
Acute Chest Syndrome
A life-threatening complication affecting the lungs, requiring emergency treatment.
Organ Damage
Repeated blockages in blood flow can gradually damage the spleen, kidneys, and liver over time.
When to Seek Medical Care
Sudden Weakness or Difficulty Speaking
Needs emergency evaluation to rule out a stroke.
Severe Chest Pain or Difficulty Breathing
Needs emergency care.
A Pain Crisis Unlike the Usual Pattern
Pain that is unusually severe, prolonged, or different from previous episodes should be assessed promptly.
High Fever
Can indicate a serious infection and needs urgent attention, particularly in children.
Prognosis
Highly Dependent on Access to Care
With early diagnosis and consistent preventive care, most complications can be prevented or well managed.
Historically Poor Without Treatment
In some settings without systematic newborn screening, a substantial share of children with sickle cell disease do not survive to their fifth birthday.
Improving With Wider Access to Screening and Care
Regional efforts to expand newborn screening and preventive treatment across Africa are working to close this gap.
Differential Diagnosis
Malaria
Can also cause severe anaemia and fever in the same regions, and the two conditions can occur together, sometimes with serious consequences.
Osteomyelitis
A bone infection that can cause severe limb pain similar to a sickle cell pain crisis, and the two can be difficult to tell apart.
Appendicitis or Other Causes of Abdominal Pain
Can resemble a sickle cell pain crisis affecting the abdomen, and needs to be considered, particularly with severe or unusual pain.
References
World Health Organization (WHO)
World Health Organization fact sheet on sickle cell disease causes, symptoms, diagnosis, treatment, and global burden.
WHO Consolidated Guidelines: Management of Sickle-Cell Disease in Children and Adolescents
WHO’s clinical guidance on managing sickle cell disease in children, including preventive care and complication management.
WHO: Understanding the PEN-Plus Approach
WHO’s approach to expanding access to care for severe noncommunicable diseases, including sickle cell disease, in the African region.
Frequently Asked Questions
Can sickle cell disease be cured?
For most people, no, though bone marrow transplant and gene therapy can cure some patients, most often children with a matched donor. For most people living with sickle cell disease today, treatment focuses on preventing complications and managing the condition well rather than curing it.
Is sickle cell disease contagious?
No. It is a genetic condition inherited from both parents at conception and cannot be spread through contact with someone who has it.
What is the difference between sickle cell disease and sickle cell trait?
Sickle cell disease occurs when someone inherits the sickle gene from both parents and usually causes significant symptoms. Sickle cell trait means inheriting the gene from only one parent, which generally causes no symptoms but can still be passed on to children.
Why is sickle cell trait so common in some regions?
Carrying one copy of the sickle gene offers some natural protection against severe malaria, which is part of why the trait has remained common in regions where malaria is widespread.