Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia.
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.
Tang
W
W
Department of Pathology, McMaster University, School of Medicine, Hamilton, Ontario, Canada.
Cai
S P
SP
Eng
B
B
Poon
M C
MC
Waye
J S
JS
Illum
N
N
Chui
D H
DH
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
D005914:Globins; D005319:Fetal Hemoglobin