Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I.
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.
Tamary
H
H
Pediatric Hematology-Oncology Center, Schneider's Children's Medical Center of Israel, Petah Tiqva.
Shalev
H
H
Luria
D
D
Shaft
D
D
Zoldan
M
M
Shalmon
L
L
Gruinspan
A
A
Stark
B
B
Chaison
M
M
Shinar
E
E
Resnitzky
P
P
Zaizov
R
R
D000293:Adolescent; D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000145:classification / Q000208:ethnology / Q000503:physiopathology*; D017209:Apoptosis; D018912:Arabs / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004900:Erythroblasts / Q000648:ultrastructure*; D004920:Erythropoiesis / Q000235:genetics; D004921:Erythropoietin / Q000097:blood; D005260:Female; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007223:Infant; D007557:Israel / Q000453:epidemiology; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D016196:S Phase; D017086:beta-Thalassemia / Q000235:genetics / Q000473:pathology
D004921:Erythropoietin; D005914:Globins; D006443:Hemoglobin A2