Diamond-Blackfan anemia 13
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
21 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (21 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Normocytic anemia
Normocytic anemia
- MedGen UID: 39310
- Concept ID: C0085577
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Normocytic anemia
- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of metabolism/homeostasis
- Elevated red cell adenosine deaminase activity
Elevated red cell adenosine deaminase activity
- MedGen UID: 868156
- Concept ID: C4022547
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated red cell adenosine deaminase activity
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