Progress on genes related to fetal hemoglobin quantitative trait

Fetal hemoglobin (HbF) is the main type of hemoglobin in the fetus and few in adult, but retains high levels in some people and patients with beta-thalassemia major or sickle cell disease. High HbF levels are beneficial to ameliorating the disease severity of the anemia. Previous researches had established that quantitative trait loci were associated with 6q23 and 2p15. Recent researches indicated that HBS1L-MYB in 6q23 and BCL11A in 2p15 are highly correlated to HbF levels. These discoveries not only help to understanding of mechanism in HbF expression, but also provide potential drug targets for therapy of sickle cell disease. The progress on genes related to fetal hemoglobin quantitative trait and potential applications was summarized in this review.