BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Information for : Fetal hemoglobin persistence and neurodevelopmental alterations due to BCL 11 A deletions

What influences Hb fetal production in adulthood?

Human hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α(2)γ(2)) (Hb F) being the main hemoglobin in the fetal period. After birth, there is a reduction (to about 1%) in Hb F levels and adult hemoglobin, Hb A (2α(2)β(2)), increases to mor...

بررسی ارتباط پلی‌مورفیسم ژن BCL11A با میزان بیان ژن گاما گلوبین و مقدار هموگلوبین F در افراد مبتلا به بیماری بتا تالاسمی اینترمدیا در جمعیت اصفهان

 Background: A Thalassemia intermedium is an autosomal recessive disease that from clinical and also genotypic view contains a very heterogeneous group of hemoglobinopathies and severity of disease is placed between thalassemia major and minor. High levels of fetal hemoglobin have a major impact on the severity of this disease, so that increased production of HbF, reduces these veritie...

A functional element necessary for fetal hemoglobin silencing.

BACKGROUND An improved understanding of the regulation of the fetal hemoglobin genes holds promise for the development of targeted therapeutic approaches for fetal hemoglobin induction in the β-hemoglobinopathies. Although recent studies have uncovered trans-acting factors necessary for this regulation, limited insight has been gained into the cis-regulatory elements involved. METHODS We iden...

Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing.

Persistence of human fetal hemoglobin (HbF, α(2)γ(2)) in adults lessens the severity of sickle cell disease (SCD) and the β-thalassemias. Here, we show that the repressor BCL11A is required in vivo for silencing of γ-globin expression in adult animals, yet dispensable for red cell production. BCL11A serves as a barrier to HbF reactivation by known HbF inducing agents. In a proof-of-principle te...