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review Predicting clinical severity in sickle cell anaemia M. H. Steinberg Department of Medicine, Boston University School of Medicine and the Center of Excellence in Sickle Cell Disease, Boston Medical Center, Boston, MA, USA Summary The ability to predict the phenotype of an individual with sickle cell anaemia would allow a reliable prognosis and could guide therapeutic decision making. Some risk factors for individual disease complications are known but are insufficiently precise to use for prognostic purposes; predicting the global disease severity is not yet possible. Genetic association studies, which attempt to link gene polymorphisms with selected disease subphenotypes, may eventually provide useful methods of foretelling the likelihood of certain complications and allow better individualized treatment. Keywords: single nucleotide polymorphisms, linkage disequilibrium, genetic association, fetal haemoglobin, sickle cell. ‘Never make predictions, especially about the future’. Berra Y. Predicting the phenotype of sickle cell anaemia in the first months of life, or even antenatally, would allow a precise prognosis, permit individualized treatment and avoid unnecessary hazardous interventions. Sickle cell anaemia, a monogenic disorder caused by homozygosity for a single b-globin gene (HBB) mutation (HbS; b6GAG fi GTG; Glu fi Val; glu6val), behaves clinically as a multigenic trait with exceptional phenotypic variability (Table I). Sickle cell disease encompasses s ...
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