Lessons from a cohort study - the case for early detection of sickle-cell disease - abstract

ABSTRACT

A cord blood screening programme from 1973 to 1981 identified all cases with sickle-cell disease among 100,000 consecutive normal deliveries. Follow-up of childern with homozygous sickle-cell (SS) disease revealed a 15 per cent mortality in the first 10 years of life, one-third of which occurred in the first year of life. The principal causes of early mortality were identified as acute chest syndrome, acute splenic sequestration and pneumococcal septicaemia. Following a parental education programme in the significance and domiciliary diagnosis of acute splenic sequestration, and a policy of prophylatic splenectomy in recurrent life-threatening episodes, the mortality from this group of complications has fallen by approximately 90 per cent. The early institution of prophylactic penicillin therapy has significantly reduced the risks of pneumococcal septicaemia. The acute chest syndrome may also be more effectively treated if the underlying diagnosis of haemoglobinopathy is known. Neonatal screening for sickle-cell disease is a technically simple procedure which, by allowing the early institution of educational and prophylactic programmes, may have a profound effect on morbidity and mortality of the disease. It should be instituted throughout the Caribbean (AU)