2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

Elevated fetal hemoglobin (HbF) ameliorates the clinical severity of hemoglobinopathies such as β-thalassemia and sickle cell anemia. Currently, the only curative approach for individuals under chronic transfusion/chelation support therapy is allogeneic stem cell transplantation. However, recent ana...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Funnell, Alister P. W., Prontera, Paolo, Ottaviani, Valentina, Piccione, Maria, Giambona, Antonino, Maggio, Aurelio, Ciaffoni, Fiorella, Stehling-Sun, Sandra, Marra, Manuela, Masiello, Francesca, Varricchio, Lilian, Stamatoyannopoulos, John A., Migliaccio, Anna R., Papayannopoulou, Thalia
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492199/
https://ncbi.nlm.nih.gov/pubmed/26019277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-04-638528
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