title: Humanized mouse models of Cooley's anemia: correct fetal-to-adult hemoglobin switching, disease onset, and disease pathology.
abstract: beta thalassemia major or Cooley's Anemia (CA) has been difficult to model in mice due to their lack of a fetal hemoglobin gene equivalent. This summary describes novel preclinical humanized mouse models of CA that survive on human fetal hemoglobin at birth and are blood-transfusion dependent for life upon completion of their human fetal-to-adult hemoglobin switch after birth. These CA models are the first to recapitulate the temporal onset of the disease in human patients. These novel humanized CA disease models are useful for the study of the regulation of globin gene expression, synthesis, and switching; examining the onset of disease pathology; development of transfusion and iron chelation therapies; induction of fetal hemoglobin synthesis; and the testing of novel genetic and cell-based therapies for the correction of thalassemia.
authors: Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors: Yongliang
authors: Y
authors: Huo
authors: Sean C
authors: SC
authors: McConnell
authors: Shanrun
authors: S
authors: Liu
authors: Tingting
authors: T
authors: Zhang
authors: Rui
authors: R
authors: Yang
authors: Jinxiang
authors: J
authors: Ren
authors: Thomas M
authors: TM
authors: Ryan
mesh_terms: D017668:Age of Onset; D000818:Animals; D001803:Blood Transfusion; D004195:Disease Models, Animal; D005319:Fetal Hemoglobin / Q000235:genetics*; D015316:Genetic Therapy; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D051379:Mice; D017086:beta-Thalassemia / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology* / Q000628:therapy
chemical_list: D006454:Hemoglobins; D005319:Fetal Hemoglobin