The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes
the entire delta and beta globin genes
GD Efremov, N Nikolov, Y Hattori, I Bakioglu and TH Huisman
Restriction endonuclease mapping analyses were made of DNA from a few
members of a Macedonian family with hematological characteristics of delta
beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels
of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains
(average 59.5%). A large deletion of 18 to 23 kb was present with a 5'
breakpoint within a 670-bp segment of DNA between the HpaI and NcoI
restriction sites 5' to the delta globin gene, and a 3' breakpoint between
the BamHI and HpaI restriction sites located some 9 to 13 kb 3' to the beta
globin gene. This deletion is different from those present in other types
of G gamma A gamma(delta beta)zero- thalassemia. The similarity of the
hematological expression of these delta beta-thalassemic conditions which
have somewhat comparable 5' breakpoints supports the idea that an important
fetal hemoglobin- controlling region lies between the psi beta and delta
globin genes.
Volume 68,
Issue 4,
pp. 971-974,
10/01/1986
Copyright © 1986 by The American Society of Hematology
