Sickle Cell Disease
Also known as Sickle cell anaemia, SCD
This article is general health information for the selected condition. It is not a diagnosis and does not replace clinical judgement. If you have questions or need treatment advice, please consult a qualified healthcare professional.
What is sickle cell disease?
Sickle cell disease is an inherited condition in which abnormal haemoglobin causes red blood cells to become rigid and crescent shaped. These cells block small vessels, causing severe pain crises and organ damage, and they break down early, causing anemia. Pain crises are genuinely severe and are frequently undertreated because of unwarranted concerns about opioid seeking.
Causes
- Inheritance of two copies of the haemoglobin S gene
- Polymerisation of deoxygenated haemoglobin S
- Red cell sickling and vaso occlusion
- Triggers including dehydration, infection, cold and hypoxia
Symptoms
- Episodes of severe pain in bones, chest or abdomen
- Chronic anemia with fatigue and pallor
- Jaundice
- Swelling of hands and feet in infants
- Frequent infections
- Delayed growth and puberty
- Chest pain and breathlessness in acute chest syndrome
- Stroke, including in childhood
Risk factors
- African, Caribbean, Middle Eastern, Indian or Mediterranean ancestry
- Both parents carrying the sickle cell trait
- Dehydration and infection as crisis triggers
- High altitude and extreme temperature exposure
Diagnosis
- Newborn screening in many countries
- Haemoglobin electrophoresis or HPLC
- Full blood count and reticulocyte count
- Genetic testing and family counselling
- Transcranial Doppler in children to assess stroke risk
Treatment
- Hydroxyurea to reduce crisis frequency
- Prompt effective analgesia during crises, including opioids
- Hydration and treatment of triggering infection
- Penicillin prophylaxis and vaccination in children
- Blood transfusion or exchange for severe complications
- Regular transcranial Doppler and stroke prevention
- Stem cell transplant or gene therapy in selected patients
Self care
- Drink fluids generously, since dehydration triggers crises
- Keep warm and avoid sudden temperature changes
- Take hydroxyurea and folic acid as prescribed
- Take penicillin prophylaxis and keep vaccinations up to date
- Carry your individualised pain management plan
- Treat fevers and infections promptly rather than waiting
- Avoid high altitude and unpressurised flights where advised
When to see a doctor
Book an appointment if:
- Crises becoming more frequent or more severe
- Persistent tiredness beyond your usual baseline
- Leg ulcers that are not healing
- Vision changes
- Planning pregnancy, which needs specialist input
- Difficulty getting adequate pain relief during crises
Some symptoms need emergency care rather than an appointment. See the warning signs listed above.
Prevention
- Crises cannot always be prevented, but triggers can be reduced
- Stay well hydrated and avoid getting cold
- Take hydroxyurea, which reduces crisis frequency
- Keep up with vaccinations and prophylactic antibiotics
- Attend transcranial Doppler screening in childhood to reduce stroke risk
- Seek early treatment for any infection
Outlook
Outlook has improved substantially with newborn screening, penicillin prophylaxis, vaccination, hydroxyurea and stroke screening, and most people in high income settings now reach adulthood. Life expectancy remains reduced and organ damage accumulates over time. Stem cell transplant and newer gene therapies can be curative for carefully selected patients.
Common questions
What is the difference between disease and trait?
Sickle cell trait means inheriting one abnormal gene. Carriers are generally healthy but can pass the gene on. Disease requires two abnormal genes and causes the full clinical picture.
Why is pain management a particular issue?
Vaso occlusive crises cause severe pain requiring prompt strong analgesia, yet studies repeatedly show patients face delays and suspicion of drug seeking. Timely treatment following an individualised plan is the standard of care.
What is acute chest syndrome?
A life threatening complication with chest pain, fever, cough and low oxygen levels caused by sickling in the lungs. It is a leading cause of death in sickle cell disease and requires emergency hospital treatment.
References
Important: Dard AI is not a medical device and does not diagnose, treat, or replace clinician judgement. This article is general information only. Always consult a qualified healthcare professional about diagnosis and treatment, and seek emergency care for severe or rapidly worsening symptoms.