DNA methylation patterns of β-globin cluster in β-thalassemia patients.

ABSTRACT:

Background

Reactivation of fetal hemoglobin (HbF, α₂γ₂) holds a therapeutic target for β-thalassemia and sickle cell disease. Although many HbF regulators have been identified, the methylation patterns in β-globin cluster driving the fetal-to-adult hemoglobin switch remains to be determined.

Results

Here, we evaluated DNA methylation patterns of the β-globin cluster from peripheral bloods of 105 β⁰/β⁰ thalassemia patients and 44 normal controls. We also recruited 15 bone marrows and 4 cord blood samples for further evaluation. We identified that the CpG sites in the locus control region (LCR) DNase I hypersensitive site 4 and 3 (HS4-3) regions, and γ- and β-globin promoters displayed hypomethylation in β⁰/β⁰-t

SUBMITTER: Bao X 

PROVIDER: S-EPMC7712619 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature