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Thrombocytopenia with congenital dyserythropoietic anemia

ORPHA:67044· ICD-10 D69.4

Definition

A rare hematological disorder characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects almost exclusively males.

Prevalence
<1 / 1 000 000
Inheritance
X-linked recessive
Age of onset
Infancy, Neonatal