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Hereditary isolated aplastic anemia
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.
ORPHA:397692
Classification level: DisorderA summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
Detailed information
Guidelines
- Emergency guidelines
- Français (2022, pdf) - Orphanet Urgences
- Clinical practice guidelines
- English (2016) - Br J Haematol
- Français (2019) - PNDS


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.