Clinical and hematological features of congenital dyserythropoietic anemia type I / 中华血液学杂志
Chinese Journal of Hematology
; (12): 377-380, 2009.
Article
em Zh
| WPRIM
| ID: wpr-314477
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical and laboratory features of patients with congenital dyserythropoietic anemia type I (CDA-I), and improve the clinical diagnostic accuracy.</p><p><b>METHODS</b>The clinical and hematological features of 5 patients diagnosed as CDA-I in our hospital between July 2002 and July 2007 were analyzed retrospectively, and the related literatures was reviewed.</p><p><b>RESULTS</b>Five CDA-I patients, 1 male and 4 females, all had a long history of varied degree of chronic anemia. One patient had congenital malformations, 3 jaundice and 4 hepatosplenomegaly. Bone marrow specimens invariably showed hypercellularity due to erythroid hyperplasia with megaloblastic changes, irregularly shaped nuclear, and chromatin bridges in 0.2% to 0.6% of all erythroblasts. All the 5 patients' bone marrow erythroblasts showed spongy heterochromatin appearances (swiss-cheese) with electron microscopy examination. There was no morphologic abnormality in the granulocytes and megakaryocytes. Serum ferritin levels were increased in 3/4 patients. One patient had been misdiagnosed as hereditary spherocytosis and performed splenectomy in the local hospital with no improvement in Hb level.</p><p><b>CONCLUSIONS</b>CDA-I is a rare congenital anemia characterized by ineffective erythropoiesis, jaundice, hepatosplenomegaly and iron overload, and may be misdiagnosed. Keeping these manifestations in mind should avoid misdiagnosis.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Sangue
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Estudos Retrospectivos
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Diagnóstico
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Anemia Diseritropoética Congênita
Tipo de estudo:
Diagnostic_studies
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Observational_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Hematology
Ano de publicação:
2009
Tipo de documento:
Article