Congenital hypoplastic anemia
- Synonyms
- ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND; Aase syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; Blackfan Diamond syndrome; Diamond-Blackfan anemia; Erythrogenesis imperfecta; Red cell aplasia, pure hereditary
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Colin Sieff
- view full author information
Available tests
54 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (54 available)
Biochemical Genetics Tests
- EuroGenetest, 2011Clinical utility gene card for: Diamond Blackfan anemia
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