title: Generation of transgenic mice expressing human hemoglobin E.
abstract: Hemoglobin E (HbE, beta26 Glu-->Lys) is the most common abnormal Hb variant in the world, and found in greatest frequency in Southeast (SE) Asia. In the United States, HbE is the third most prevalent variant (after HbS and HbC); and its now increasing frequency is due to immigration from SE Asia. HbE homozygotes present a benign clinical picture, but when HbE is coupled with beta0-thalassemia or HbS, variably severe hemoglobinopathies arise. To date, there are no transgenic animal models of HbE-related diseases. We report here the creation of transgenic mice expressing human HbE as a step toward creating animal models for HbE-related diseases. The betaE mice exhibit red blood cell hypochromia and target cells consistent with those observed in human patients exhibiting HbE trait. Furthermore, the transgenic HbE hemolysates contain increased amounts of Hb oxidation products.
authors.affiliation: Department of Medicine/Hematology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
authors.forename: Qiuying
authors.initials: Q
authors.lastname: Chen
authors.forename: Eric E
authors.initials: EE
authors.lastname: Bouhassira
authors.forename: Arnaud
authors.initials: A
authors.lastname: Besse
authors.forename: Sandra M
authors.initials: SM
authors.lastname: Suzuka
authors.forename: Mary E
authors.initials: ME
authors.lastname: Fabry
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Nagel
authors.forename: Rhoda Elison
authors.initials: RE
authors.lastname: Hirsch
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005786:Gene Expression Regulation / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006720:Homozygote; D051379:Mice; D008822:Mice, Transgenic; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D006446:Hemoglobin E