X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

Orpha code: 363727OMIM code: 300835

Definition

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.

Disease data
Classification

Disease

ORPHA code
363727
OMIM code
300835
ICD10 code
D64.4
ICD11 code
-

No additional description.

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