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Clinical features and studies of erythropoiesis in Israeli Bedouins with
congenital dyserythropoietic anemia type I
H Tamary, H Shalev, D Luria, D Shaft, M Zoldan, L Shalmon, A Gruinspan, B Stark, M Chaison, E Shinar, P Resnitzky and R Zaizov
Pediatric Hematology-Oncology Center, Schneider's Children's Medical Center
of Israel, Petah Tiqva.
Congenital dyserythropoietic anemia (CDA) type I is a rare macrocytic
anemia of unknown etiology. In the present study, we redefined the clinical
and laboratory picture of CDA type I, some of its pathogenic aspects, and
the association with thalassemia-like features in 20 patients, all of whom
belong to one Bedouin tribal group and are probably descended from a common
ancestor. In each case ultrastructural studies of bone marrow (BM)
erythroblasts showed the classic morphological findings of CDA type I.
Serological tests for CDA type II were negative. The clinical picture was
variable, but mostly benign. Some patients displayed elevated hemoglobin A2
levels or high ratio of alpha- to non-alpha- globin. However, neither
family studies nor complete sequence analysis of the beta-globin was
compatible with beta- thalassemia. Increased erythropoiesis was manifested
by a high number of BM erythroid burst-forming units. Serum erythropoietin
was also elevated. BM flow cytometry studies demonstrated arrest of
erythroid precursors in the S phase of the cell cycle. The ultrastructural
morphological features of the erythroid precursors, showing peripheral
chromatin condensation, suggest apoptosis. Additional studies are indicated
to define the molecular basis of this disease.
Volume 87,
Issue 5,
pp. 1763-1770,
03/01/1996
Copyright © 1996 by The American Society of Hematology
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