Ontology highlight
ABSTRACT:
SUBMITTER: Holshouser S
PROVIDER: S-EPMC7315572 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Holshouser Steven S Cafiero Rebecca R Robinson Mayra M Kirkpatrick Joy J Casero Robert A RA Hyacinth Hyacinth I HI Woster Patrick M PM
ACS omega 20200609 24
Sickle cell disease (SCD) is caused by a single nucleotide polymorphism on chromosome 11 in the β-globin gene. The resulting mutant hemoglobin S (HbS) is a poor oxygen transporter and causes a variety of vascular symptoms and organ failures. At birth, the DRED epigenetic complex forms and silences the γ-globin gene, and fetal hemoglobin (HbF, 2 α-, and 2 γ-subunits) is replaced by adult HbA (α<sub>2</sub>β<sub>2</sub>) or HbS (α<sub>2</sub>β<sup>s</sup> <sub>2</sub>) in SCD patients. HbF is a po ...[more]