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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.

Type

Journal article

Journal

Blood

Publication Date

07/1992

Volume

80

Pages

517 - 522

Addresses

Department of Pathology, McMaster University, School of Medicine, Hamilton, Ontario, Canada.

Keywords

Erythrocytes, Reticulocytes, Humans, Thalassemia, Chromosome Deletion, Globins, DNA, RNA, Messenger, Polymerase Chain Reaction, Gene Expression, Multigene Family, Embryo, Mammalian, Genetic Variation, Genetic Carrier Screening