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Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease.

Pediatric blood & cancer (2010-09-11)
Nancy S Green, Sandra Barral
ABSTRACT

Fetal hemoglobin (HbF) levels are generally inversely proportional to severity of sickle cell disease (SCD) for given sickle phenotypes. Molecular regulation of HbF occurs through complex interactions cis and trans to the beta globin gene locus. Novel insights made through population-based genetic epidemiologic studies of non-anemic populations were replicated in SCD groups, despite large differences in HbF levels. Identification of the lymphoid transcription factor BCL11A as a key suppressor of HbF expression validates approaches using population genetics to study HbF expression. We review these methods and findings, and speculate on applying pharmaco-genetics to optimize hydroxyurea therapy aimed at increasing HbF.

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Sigma-Aldrich
Idrossiurea, 98%, powder
Idrossiurea, European Pharmacopoeia (EP) Reference Standard