Diagnosis and Management of Sickle Cell Disease

Patients carrying both sickle cell genes typically have a haemoglobin S level above 60%, and below that the manifestations are usually milder, seen more in sickle cell trait or a combination haemoglobinopathy such as HbSC or HbSE. There is a general tendency for higher HbS to mean more symptoms, but the correlation is not exact and cannot be relied on mathematically for any individual patient.

The middle and posterior cerebral artery territories are affected most commonly, similar to the pattern seen in adults, though the anterior territory can occasionally be involved too. Regular transcranial Doppler screening from two years of age is the key prevention tool: it uses ultrasound to measure blood flow velocity in the cerebral vessels and identifies children at higher risk of stroke early, so that preventive medication and closer monitoring can begin before a stroke actually happens.

In pregnant women who have generally done well and had infrequent pain crises up to childbearing age, hydroxyurea is usually held during pregnancy since it is not a good option for fetal development. Good hydration and avoiding any other stressful conditions are advised instead, and folic acid supplementation must continue.

As early as the disease is detected, sometimes as young as two months of age.

The best outcomes are under 16 years, 16 to 25 is still viable, and beyond 25 the risks rise and require much more detailed pre-transplant workup, including cardiac and kidney function assessment, though age is not always a fixed barrier if organ function is well preserved and the family is fully committed. A full-match sibling transplant typically costs around $24,000 to $25,000, rising for older patients closer to adult body weight, while a half-match or unrelated-donor transplant through a registry costs around $33,000 to $34,000, since registry and donor-related costs are higher even though complications are reduced.

Nearly 500,000 children are born with sickle cell disease each year, with around 80% of these births occurring in sub-Saharan Africa.

India and Africa both manage large sickle cell populations under similar resource constraints, so working out common screening, referral and treatment protocols together is more useful than treating either region's experience in isolation.