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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

1992

Volume

80

Pages

517 - 522

Keywords

*Chromosome Deletion DNA/blood/genetics/isolation & purification Embryo Erythrocytes/metabolism Gene Expression Globins/*genetics Heterozygote Detection Human *Multigene Family Polymerase Chain Reaction/methods RNA, Messenger/genetics/metabolism Reticulocytes/metabolism Support, Non-U.S. Gov't Support, U.S. Gov't, P.H.S. Thalassemia/blood/*genetics Variation (Genetics)