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Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis
EB Perdahl, BL Naprstek, WC Wallace and JM Lipton
Jack and Lucy Clark Department of Pediatrics, Mount Sinai School of
Medicine, New York, NY 10029.
Programmed cell death, also known as apoptosis, is frequently initiated
when cells are deprived of specific trophic factors. To investigate if
accelerated apoptosis contributes to the pathogenesis of Diamond- Blackfan
anemia (DBA), a rare pure red blood cell aplasia of childhood, we studied
the effect of erythropoietin (epo) deprivation on erythroid progenitors and
precursors from the bone marrow of DBA patients as compared with
hematologically normal controls. Apoptosis in response to epo deprivation
was evaluated by enumeration of colony-forming unit- erythroid (CFU-E)- and
burst-forming unit-erythroid (BFU-E)-derived colonies in plasma clot
semisolid culture and by the identification of typical DNA oligosomes by
gel electrophoresis from marrow mononuclear cells in liquid culture. In all
DBA patients there was a marked decrease in CFU-E- and BFU-E-derived colony
formation compared with normal controls at comparable time points of epo
deprivation, with a complete loss of CFU-E-derived colonies in semisolid
culture by 9 hours of epo deprivation versus 48 hours in controls. The
BFU-E-derived colony response to epo deprivation displayed a similar
pattern of decrement. Apoptotic changes assessed by the presence of
characteristic DNA fragmentation began in the absence of epo deprivation
and were readily detected within 3 hours of epo deprivation in DBA cultures
versus 9 hours in controls. We conclude that DBA is characterized by
accelerated apoptosis as measured by the loss of erythroid progenitor
clonogenicity and increased progenitor and precursor DNA fragmentation
leading to the formation of characteristic oligosomes, consistent with an
intrinsic erythroid-progenitor defect in which increased sensitivity to epo
deprivation results in erythroid failure.
Volume 83,
Issue 3,
pp. 645-650,
02/01/1994
Copyright © 1994 by The American Society of Hematology
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