title: Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia.
abstract: A 10-year-old Danish girl with congenital anemia is described. At birth, she had severe anemia and erythroblastosis and was transfused a number of times during the first year. The need for transfusions has since declined steadily. Her reticulocyte counts varied between 2% and 15%, and her bone marrow aspirate showed some dyserythropoietic features. Her hemoglobin F level was consistently elevated, up to as much as 41%. Her erythrocytes had a normal level of I antigen but an undetectable level of i antigen. Moreover, embryonic zeta-globin and epsilon-globin chains were present in some of her circulating erythrocytes. These findings may represent the manifestations of a new variant of congenital anemia.
authors.affiliation: Department of Pathology, McMaster University, School of Medicine, Hamilton, Ontario, Canada.
authors.forename: W
authors.initials: W
authors.lastname: Tang
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: M C
authors.initials: MC
authors.lastname: Poon
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: N
authors.initials: N
authors.lastname: Illum
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
mesh_terms: D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000097:blood* / Q000151:congenital*; D002648:Child; D004920:Erythropoiesis; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D005914:Globins / Q000032:analysis* / Q000235:genetics; D006801:Humans; D008297:Male
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin