Sickle cell disease in children: an update of the evidence in low- and middle-income settings

Abstract

Sickle cell disease (SCD), one of the most common monogenetic diseases in the world, is associated with multisystemic complications that begin in childhood. Most of the babies homozygous for the sickle haemoglobin gene are born in sub-Saharan Africa. Over the years, progress has been made with early diagnosis through newborn screening, penicillin prophylaxis, pneumococcal immunisation, transcranial Doppler (TCD) screening, hydroxyurea therapy and chronic blood transfusions with remarkably improved survival and quality of life of children with SCD. However, wide disparities in outcomes exist between high-income countries (HICs) where over 90% survive to adulthood, and low-income and middle-income countries (LMICs) where less than half achieve that milestone. Even in HICs, racial inequities pose barriers to accessing specialised care and receiving treatment for acute pain episodes. Better understanding of SCD pathophysiology is being exploited to develop new disease-modifying drugs and gene therapy approaches to further improve outcomes. Bone marrow transplantation is established as a curative treatment for SCD, but it is largely unavailable in LMICs. To bridge the disparity and inequity gaps, innovative approaches are needed in LMICs. Validated and more affordable, easy-to-use point-of-care tests offer opportunities to link early diagnosis with immunisation programmes and healthcare encounters. Widespread use of hydroxyurea therapy—a relatively affordable and effective disease-modifying drug—in LMICs would help improve survival and quality of life. Integration of SCD treatment into primary care linked to district level/provincial hospitals that are supported with evidence-based guidelines will help extend needed interventions to many more patients living in LMICs.