Thursday, October 29, 2020 -
12:00 to 13:00
BMC Seminar Thursday 29 October, 12:00
Speaker: Magnús K. Magnússon, professor, Faculty of Medicine, University of Iceland and project leader deCODE GEnetics
Title: The genetics of fetal hemoglobin levels in adults.
Background: Hemoglobinopathies are a group of genetic disorders with qualitative or quantitative defects in globin genes leading to abnormal hemoglobin in red cells. The most important qualitative globin defect is the Glu 6 Val mutation in beta globin leading in homozygous state to sickle cell anemia (SCA) affecting close to 4.5 million people world wide, mostly in Sub-Saharan Africa. In many hemoglobinopathies, especially SCA, high fetal hemoglobin expression levels is the most important predictor for good clinical outcome. Therapeutic interventions that elevate fetal hemoglobin levels, both through drugs or genetic manipulation have been shown to ameliorate the clinical course of the disease. Previous genome-wide association studies (GWAS) have revealed three major loci regulating fetal hemoglobin leveles in adults, the BCL11A, HBS1L-MYB and beta-globin loci. In this seminar I will discuss the regulation of fetal hemoglobin and present findings from a new GWAS of fetal hemoglobin based on blood RNA sequencing.