Article
g(HbF): a genetic model of fetal hemoglobin in sickle cell disease.
Blood advances - 13 Feb 2018
Gardner Kate, Fulford Tony, Silver Nicholas, Rooks Helen, Angelis Nikolaos, Allman Marlene, Nkya Siana, Makani Julie, Howard Jo, Kesse-Adu Rachel, Rees David C, Stuart-Smith Sara, Yeghen Tullie, Awogbade Moji, Sangeda Raphael Z, Mgaya Josephine, Patel Hamel, Newhouse Stephen, Menzel Stephan, Thein Swee Lay
Abstract excerpt
Fetal hemoglobin (HbF) is a strong modifier of sickle cell disease (SCD) severity and is associated with 3 common genetic loci. Quantifying the genetic effects of the 3 loci would specifically address the benefits of HbF increases in patients. Here, we have applied statistical methods using the most representative variants: rs1427407 and rs6545816 in BCL11A, rs66650371 (3-bp deletion) and rs9376090 in HMIP-2A,...