Hereditary isolated aplastic anemia

Orpha code: 397692OMIM code: 616553

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.

Disease data
Classification

Disease

ORPHA code
397692
OMIM code
616553
ICD10 code
D61.0
ICD11 code
3A70.0

No additional description.

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