vitalwiki

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

ORPHA:363727· ICD-10 D64.4

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.

Prevalence
<1 / 1 000 000
Inheritance
X-linked recessive
Age of onset
All ages