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 belon...

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Bibliographic Details
Published in:Blood 1996-03, Vol.87 (5), p.1763-1770
Main Authors: Tamary, Hannah, Shalev, Hanna, Luria, Drorit, Shaft, Dina, Zoldan, Meira, Shalmon, Lea, Gruinspan, Ana, Stark, Batya, Chaison, Marta, Shinar, Eilat, Resnitzky, Peretz, Zaizov, Rina
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia, Dyserythropoietic, Congenital - blood
Anemia, Dyserythropoietic, Congenital - classification
Anemia, Dyserythropoietic, Congenital - ethnology
Anemia, Dyserythropoietic, Congenital - physiopathology
Anemias. Hemoglobinopathies
Apoptosis
Arabs - genetics
beta-Thalassemia - genetics
beta-Thalassemia - pathology
Biological and medical sciences
Bone Marrow - pathology
Child
Child, Preschool
Consanguinity
Diseases of red blood cells
Erythroblasts - ultrastructure
Erythropoiesis - genetics
Erythropoietin - blood
Female
Globins - genetics
Hematologic and hematopoietic diseases
Hemoglobin A2 - analysis
Humans
Infant
Israel - epidemiology
Male
Medical sciences
Microscopy, Electron
Pedigree
S Phase
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Summary: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 urtrastruc-tural 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 a high ratio of α-to non-α globin. However, neither family studies nor complete sequence analysis of the β-globin was compatible with β-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 urtrastructural morphological features of the erythroid precursors, showing peripheral chromatin condensation, suggest apoptosis. Additional studies are indicated to define the molecular basis of this disease.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V87.5.1763.1763