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Sickle Cell Disease

Learn about sickle cell disease, including its symptoms, diagnosis, laboratory tests, treatment and prevention.

Last Reviewed 6 Aug 2026
Reading Time 9 min read

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.

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Key Fact

Official statistics likely capture only a fraction of the true toll of sickle cell disease. In 2021, cause-specific records counted around 34,400 deaths from the condition worldwide, yet researchers estimate the real number was closer to 376,000, roughly eleven times higher, largely because sickle cell disease often makes other illnesses far more dangerous without ever being recorded as the underlying cause.

Warning

Sudden severe pain unlike a usual pain episode, high fever, sudden weakness or difficulty speaking, severe chest pain with difficulty breathing, or a rapidly swelling abdomen are medical emergencies in sickle cell disease and need immediate care.

AT A GLANCE

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.
Important
The earlier sickle cell disease is diagnosed, ideally through newborn screening, the earlier preventive treatment like antibiotics and vaccination can begin, which makes a significant difference to a child’s long-term health.

Laboratory Tests

Haemoglobin Electrophoresis

Separates different haemoglobin types to confirm sickle cell disease and distinguish it from sickle cell trait.

Sample Venous blood
Time A few days

Complete Blood Count (CBC)

Shows the degree of anaemia and helps monitor overall health over time.

Sample Venous blood
Time Same day

Sickle Solubility Test

A rapid screening test that can suggest sickle cell disease, though it needs confirmation with haemoglobin electrophoresis.

Sample Venous blood
Time Same day

Genetic Testing

Can confirm the specific gene mutation, useful for family planning and prenatal counselling.

Sample Venous blood
Time 1–2 weeks

Laboratory Note

A positive screening test is not the same as a confirmed diagnosis. Haemoglobin electrophoresis is needed to distinguish sickle cell disease from sickle cell trait, which generally causes no symptoms.

Treatment

Preventive Care

Daily antibiotics and routine vaccination significantly reduce the risk of serious infection in young children, whose spleens are often affected early.

Route Oral, and Vaccination
Duration Ongoing, especially in early childhood

Hydroxyurea

A medication that reduces how often pain crises occur by encouraging the body to produce a form of haemoglobin that does not sickle.

Route Oral
Duration Ongoing, long-term

Treatment Note

Bone marrow transplant and gene therapy can offer a cure for some patients, most often children with severe disease and a matched donor, but both remain complex, expensive, and out of reach for most people living with sickle cell disease today. For most patients, treatment focuses on preventing complications and managing the condition well over a lifetime.

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.

Prevention Note

Sickle cell disease itself cannot be prevented once conceived, but genetic counselling, early diagnosis, and consistent preventive care can prevent many of its most serious and life-threatening complications.

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

Risk Note

Sickle cell trait remains common in malaria-endemic regions partly because carrying one copy of the gene offers some natural protection against severe malaria, a striking example of how the same gene can be both protective and, in its double form, seriously harmful.

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.

Complication Note

Many of these complications can be prevented or made less severe with consistent preventive care, which is why regular follow-up with a healthcare provider matters even between pain crises.

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.

Emergency Advice

Because sickle cell disease increases the risk of serious infection, a high fever in a child with sickle cell disease should always be treated as urgent, even if the child otherwise seems well.

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.

Prognosis Note

The outcome for a child born with sickle cell disease today depends enormously on where they are born and how early the condition is diagnosed, which is exactly why expanding access to newborn screening and basic preventive care remains such an urgent public health priority.

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.

Clinical Note

Because a sickle cell pain crisis can resemble several other serious conditions, anyone with known sickle cell disease should make sure new or unusual pain is properly evaluated rather than automatically assumed to be a typical crisis.

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.