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.
Artículo
en Chino
| WPRIM
| ID: wpr-314477
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sangre
/
Estudios Retrospectivos
/
Diagnóstico
/
Anemia Diseritropoyética Congénita
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Hematology
Año:
2009
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS