RESUMO
In a retrospective study of symptomatically referred patients with homozygous sickle cell (SS) disease, only 26 percent were diagnosed by two years of age. Since 61 percent of subjects in a neonatally defined cohort developed symptoms specific to sickle cell disease by this age, it is clear that the diagnosis is frequently overlooked or not transmitted to the parents. The greatest mortality from SS disease occurs in the first two years of life and early diagnosis of SS disease is essential for the institution of prophylactic programmes to prevent morbidity and mortality from acute splenic sequestration, pneumococcal septicaemia, and aplastic crisis. In the majority of children despite the occurrence of specific symptoms, the diagnosis of underlying haemoglobinopathy is not made early enough for effective intervention. Neonatal screening is the preferred option but if this is impractical, education of health care workers could promote earlier diagnosis of SS disease.(AU)
