Human embryonic zeta-globin chain expression in deletional alpha-
thalassemias
W Tang, HY Luo, M Albitar, M Patterson, B Eng, JS Waye, SA Liebhaber, DR Higgs and DH Chui
Department of Pathology, McMaster University, School of Medicine, Hamilton,
Ontario, Canada.
zeta-Globin chain expression in carriers of a number of deletional
alpha-thalassemias is investigated by radioimmunoassay. In a few cases,
zeta-globin mRNAs are also studied. zeta-Globin chains are detected in
(--SEA/), (--MED/), and (--SPAN/) deletions, but not in six other
deletional mutations. These results suggest that the DNA element capable of
suppressing zeta-globin expression in adult erythroid cells is present
within the (--SPAN/) deletion, while the DNA fragment between the 5'
breakpoints of the (--SA/) and the (--SEA/) deletions may contain sequences
necessary for augmenting zeta-globin expression in adult erythroid cells.
Furthermore, zeta-globin chains are shown by an immunocytologic technique
to be present in all circulating erythrocytes in carriers of the (--SEA/)
and (--MED/) deletions. This simple immunocytologic test is highly
sensitive and specific to detect adult carriers of either the (--SEA/) or
(--MED/) deletions, and can be used for the detection of couples at risk of
pregnancies involving fetuses with homozygous alpha-thalassemia.
Volume 80,
Issue 2,
pp. 517-522,
07/15/1992
Copyright © 1992 by The American Society of Hematology
