Orphanet: Aplasie médullaire isolée héréditaire

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Disease 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.

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Hereditary isolated aplastic anemia

ORPHA:397692

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