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A form of α0-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 α+-thalassemia have hemoglobin H disease. It results from a deletion that removes 20.5 kilobases of DNA from within the α-globin gene cluser. Sequence data from the regions adjacent to the breakpoint indicate that the recombination event that caused this deletion occurred between the α1-gene and an unusual AluI sequence located between the embryonic ζ genes.

Original publication

DOI

10.1182/blood.v65.6.1434.bloodjournal6561434

Type

Journal article

Journal

Blood

Publication Date

01/01/1985

Volume

65

Pages

1434 - 1438