Fever, chest pain with breathlessness, or sudden weakness need emergency care immediately. Acute chest syndrome and stroke are the leading causes of death in sickle cell disease and both progress within hours. Do not wait.
An inherited change in haemoglobin that makes red cells rigid and sickle-shaped under stress. They block small blood vessels, causing episodes of severe pain and, over years, damage to the spleen, bones, kidneys, lungs and brain.
Two things are frequently missed. Hydroxyurea reduces crises substantially and is under-prescribed. And children with sickle cell disease are at real risk of silent stroke, which a simple ultrasound can detect before it happens.
A single change in the beta globin gene produces haemoglobin S. When oxygen levels fall — during infection, dehydration, cold, or exertion — this haemoglobin polymerises and distorts red cells into a rigid sickle shape. Those cells block small vessels and are destroyed early, causing both severe pain and chronic anaemia.
It is inherited recessively, and it is common across sub-Saharan Africa, parts of the Middle East including Yemen and Saudi Arabia, and parts of India. Carriers are protected against severe malaria, which is why the gene persists at high frequency in malarial regions.
The complications accumulate. Repeated blockage destroys the spleen in early childhood, leaving the child vulnerable to overwhelming infection. Bone infarction causes avascular necrosis of the hip. The kidneys, lungs, eyes and brain are all affected over time. Stroke in childhood is a particular danger and is frequently silent.
Two interventions change the natural history substantially and are both under-used. Hydroxyurea increases fetal haemoglobin, which interferes with sickling, and it reduces crises, acute chest syndrome and transfusion need. And transcranial Doppler ultrasound in children identifies those at high stroke risk, who can then be protected with regular transfusion.
Hydroxyurea reduces painful crises, acute chest syndrome, transfusion requirement and hospital admission, and there is good evidence it improves survival. It remains substantially under-prescribed, particularly outside specialist centres. Separately, transcranial Doppler ultrasound in children between two and sixteen identifies those at high risk of stroke, who can then be protected by a regular transfusion programme — preventing a catastrophic and permanent injury. Neither of these requires travelling anywhere. If your child is not on hydroxyurea and has never had a transcranial Doppler, those are the two questions to put to your doctor.
Diagnosis is simple; the assessment is about complications and transplant candidacy.
The frequency of painful crises, hospital admissions, episodes of acute chest syndrome and any stroke or silent infarct is what determines whether transplant is justified in an individual patient. Send that history alongside the electrophoresis result, HLA typing if done, current medication including hydroxyurea and its dose, and any transcranial Doppler or brain MRI findings.
Most patients are managed medically. Transplant is for those with severe disease and a suitable donor.
Hydroxyurea raises fetal haemoglobin and reduces crises, chest syndrome and transfusion need. Alongside it: penicillin prophylaxis and vaccination in young children whose spleens have failed, folic acid, good hydration, and prompt treatment of every fever. This combination changes the course of the disease and is available everywhere.
Children found to have high velocities on transcranial Doppler are at substantial risk of stroke, and a regular transfusion programme reduces that risk dramatically. This is one of the clearest preventive successes in the condition, and it requires screening that is frequently not done.
Replacing the marrow cures the disease. Results are best in children with a fully matched sibling and before significant organ damage has accumulated. It is generally reserved for patients with severe disease — recurrent crises, stroke, acute chest syndrome — because it carries real risk against a condition many people live with for decades.
A half-matched parent donates where no matched sibling exists. Results in sickle cell disease have improved considerably and it is now offered at experienced centres, though graft failure and graft-versus-host disease remain more likely than with a matched sibling.
Frequency of crises, admissions, chest syndrome and any stroke. Transplant risk is justified by severity, not by diagnosis alone.
A blood test answers it, and it can be done at home. A matched sibling substantially improves the risk-benefit calculation.
A patient not yet on hydroxyurea has not had adequate medical treatment, and that should be corrected before transplant is considered.
If your child is not on hydroxyurea and has never had a transcranial Doppler, we will recommend both before discussing transplant. Neither requires leaving your country.
Fever in sickle cell disease is an emergency because the spleen no longer protects against overwhelming infection. It needs antibiotics the same day, locally.
Photographs taken on your phone are fine. Reports in Arabic, Russian or Bengali are fine — we translate them ourselves.
Ask two questions. Is your child taking hydroxyurea, and has your child had a transcranial Doppler ultrasound? Hydroxyurea substantially reduces crises and improves survival and is under-prescribed. Transcranial Doppler identifies children at high risk of stroke who can then be protected. Neither requires travelling, and both are frequently missed.
Yes — a successful transplant replaces the marrow and the recipient no longer makes sickle haemoglobin. It is offered chiefly to patients with severe disease, because it carries real risk of its own against a condition that many people live with for decades. Severity, age and donor availability together decide whether it is the right choice.
Chest pain with fever, cough and breathlessness caused by sickling within the lung vessels. It is one of the leading causes of death in sickle cell disease and it can worsen within hours. Any patient with chest symptoms and fever should be assessed urgently rather than treated as an ordinary crisis at home.
Because repeated sickling destroys the spleen in early childhood, and the spleen is what protects against certain bacteria. A child with sickle cell disease can develop overwhelming infection within hours. Every fever needs same-day assessment and usually antibiotics, and children should be on penicillin prophylaxis and fully vaccinated.
Very possibly. Avascular necrosis of the hip is common in sickle cell disease, caused by sickling blocking the blood supply to the femoral head. It often presents in adolescence with groin pain. It needs an MRI rather than an X-ray, because early disease is invisible on plain films.
Yes. Siblings should be tested both for the disease and for HLA matching. Carrier testing matters for the wider family because two carriers have a one in four chance of an affected child with each pregnancy. In communities where marriage between relatives is common, carrier testing before marriage is genuinely valuable.
Send the electrophoresis result, HLA typing if done, and a note of how many crises and admissions there have been in the past year. Severity decides whether transplant is justified.
Your reports go directly to our medical team. We do not share your records with hospitals until you tell us to.
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Coordinators available 9:00–20:00 IST. We speak Arabic, English, Russian and Bengali.