A new gene deletion in the alpha-like globin gene cluster as the molecular
basis for the rare alpha-thalassemia-1(--/alpha alpha) in blacks: HbH
disease in sickle cell trait
MH Steinberg, MB Coleman, JG Adams , RC Hartmann, H Saba and NP Anagnou
A novel deletion of at least 26 kilobase of DNA, including both alpha-
globin genes, the psi alpha- and psi zeta-globin genes, but sparing the
functional zeta-gene was found in a 10-year-old black boy with HbH disease
and sickle cell trait. This particular deletion has not previously been
described in blacks. Its existence makes it likely that the absence of Hb
Barts hydrops fetalis in blacks is due to the rarity of the chromosome
lacking two alpha-globin genes rather than a result of early embryonic
death due to the failure to synthesize embryonic hemoglobins because of
deletion of functional zeta-globin genes.
Volume 67,
Issue 2,
pp. 469-473,
02/01/1986
Copyright © 1986 by The American Society of Hematology
