Alpha zero-thalassemia due to recombination between the alpha 1-globin gene
and an AluI repeat
RD Nicholls, DR Higgs, JB Clegg and DJ Weatherall
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.
Volume 65,
Issue 6,
pp. 1434-1438,
06/01/1985
Copyright © 1985 by The American Society of Hematology
