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 Vol. 87; no. 5; pp. 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:	Journal Article
Language:	English
Published:	Washington, DC Elsevier Inc 01-03-1996 The Americain Society of Hematology
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 Israel Human Erythroid cell Congenital Dyserythropoietic anemia Pathogenesis Thalassemia Hemopathy Biology Genetic disease Erythroblast Ultrastructure Hemoglobin Electrophoresis Apoptosis
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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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0006-4971 1528-0020
DOI:	10.1182/blood.V87.5.1763.1763