Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional.

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Abstract
The deletions in the .zeta.-.alpha. globin gene cluster in 2 infants with the Hb Bart''s hydops fetalis syndrome (homozygous .alpha.-thalassesmia 1) were mapped by restriction endonuclease analysis using a .zeta.-specific probe. DNA from a Thai infant lacked the .psi..alpha.1 gene and both .alpha. genes, but the .zeta. genes were present. A Greek infant''s DNA had also lost the 3'' .zeta.1 gene. Because .zeta. globin was synthesized in the infant''s cord blood, this indicates that the 5'' .zeta.2 gene recently identified by Lauer et al. must be functional.