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A form of alpha zero-thalassemia found in subjects of Mediterranean origin has been analyzed by gene mapping and DNA sequencing. Homozygotes have the hemoglobin Bart's hydrops fetalis syndrome, while compound heterozygotes for this defect and alpha+-thalassemia have hemoglobin H disease. It results from a deletion that removes 20.5 kilobases of DNA from within the alpha-globin gene cluster. Sequence data from the regions adjacent to the breakpoint indicate that the recombination event that caused this deletion occurred between the alpha 1-gene and an unusual AluI sequence located between the embryonic zeta genes.

Type

Journal article

Journal

Blood

Publication Date

1985

Volume

65

Pages

1434 - 1438

Keywords

Chromosome Deletion Chromosome Mapping Cyprus DNA Restriction Enzymes/genetics *Genes, Structural Globins/*genetics Hemoglobins, Abnormal Human Nucleic Acid Hybridization Recombination, Genetic Support, Non-U.S. Gov't Thalassemia/blood/*genetics