Sickle Cell Diseases: Diagnosis and Management in Infancy and Childhood

Abstract

From their basic genetic and molecular mechanisms to their clinical expression, the sickle cell hemoglobinopathies are among the best understood of human diseases. However, advances in clinical management have not progressed as rapidly: sickle cell anemia, as of 1987, is still largely incurable and its treatment is empiric and symptomatic. Despite this, today we have a better understanding of the natural history of the sickle hemoglobinopathies and many of their clinical complications. This has led to improved diagnostic, prophylactic, and therapeutic strategies which have reduced the considerable morbidity and mortality of these diseases. The sickle cell disorders will be reviewed from genetic, biochemical, and clinical perspectives. Particular emphasis will be given to the rationale and strategies for neonatal testing and comprehensive clinical follow-up. Although it is widely believed that the gene for Hb S is almost exclusively, African, it has, in fact, a much wider geographic distribution. There is a broad periequatorial sickle cell belt in Africa. From Africa, the sickle gene was introduced into the Western hemisphere by the 16th and 17th century slave trade. In the United States today, sickle cell disorders are particularly prevalent in the South and in the urban North, reflecting the demography of black America. In the Carribean and Latin America, relatively high frequencies are seen in Purto Rico, Cuba, Jamaica, Haiti, Panama, Guyana, and Brazil, but not in Mexico and most of South America.