Sickle Cell Disease at 100 Years

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Science  16 Jul 2010:
Vol. 329, Issue 5989, pp. 291-292
DOI: 10.1126/science.1194035

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A 100th anniversary is often a cause for celebration. However, next week's First Global Congress on Sickle Cell Disease in Accra, Ghana, marking the centenary of the description of the disease (1), is a sober reminder that we have far to go to meet the global challenges posed by this disorder. Just over 60 years ago, sickle cell disease (SCD) was heralded as the first “molecular” disease (2), resulting from a single amino acid substitution in the β-globin chain of hemoglobin (HbA). Adult hemoglobin is a tetramer of two α-globin and two β-globin polypeptides (α2β2). Despite extensive characterization of the properties of sickle hemoglobin (HbS, α2βS2) and red blood cells containing HbS, and 30 years of analysis of globin genes, consistently effective therapy for individuals with SCD remains elusive. The World Health Organization estimates that many of the more than 200,000 babies with SCD born annually in Africa will die before the age of 5 years from anemia and infection (3, 4). In the United States, approximately 50,000 individuals are afflicted with SCD. The global need to develop uniformly effective and inexpensive therapy is enormous, and growing.