Hereditary isolated aplastic anemia
ORPHA:397692· ICD-10 D61.0
Definition
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood