Article
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
Proceedings of the National Academy of Sciences of the United States of America - 19 Aug 2008
Lettre Guillaume, Sankaran Vijay G, Bezerra Marcos André C, Araújo Aderson S, Uda Manuela, Sanna Serena, Cao Antonio, Schlessinger David, Costa Fernando F, Hirschhorn Joel N, Orkin Stuart H
Abstract excerpt
Sickle cell disease (SCD) is a debilitating monogenic blood disorder with a highly variable phenotype characterized by severe pain crises, acute clinical events, and early mortality. Interindividual variation in fetal hemoglobin (HbF) expression is a known and potentially heritable modifier of SCD severity. High HbF levels are correlated with reduced morbidity and mortality. Common single nucleotide polymorphisms...
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