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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: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Childhood
- ICD-10: D61.0
- OMIM: 616553
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
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- Clinical practice guidelines
- Français (2019, pdf)
- English (2009, pdf)
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