Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease.
Pediatr Blood Cancer
; 56(2): 177-81, 2011 Feb.
Article
en En
| MEDLINE
| ID: mdl-20830771
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Hemoglobina Fetal
/
Hidroxiurea
/
Anemia de Células Falciformes
/
Antidrepanocíticos
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Estados Unidos