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Hereditary isolated aplastic anemia
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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.
ORPHA:397692
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Clinical practice guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (40)
- Clinical trial(s) (3)
- Biobank(s) (11)
- Registry(ies) (27)
- Network of experts (5)
Newborn screening
The documents contained in this website 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.