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The deletions in the zeta-alpha globin gene cluster in two infants with the hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha thalassemia 1) have been 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. [Lauer, J., Shen, C. J. & Maniatis, T. (1980) Cell, in press] must be functional.

Original publication




Journal article


Proceedings of the National Academy of Sciences of the United States of America

Publication Date





3586 - 3589


Humans, Thalassemia, Infant, Newborn, Diseases, Chromosome Deletion, Edema, DNA Restriction Enzymes, Fetal Hemoglobin, Globins, Chromosome Mapping, Nucleic Acid Hybridization, Recombination, Genetic, Crossing Over, Genetic, Genes, Genes, Synthetic, Infant, Newborn