Diamond-Blackfan anemia
Diamond-Blackfan anemia | |
ICD-10 | D61.0 |
---|---|
ICD-9 | 284.01 |
OMIM | 105650 |
DiseasesDB | 29062 |
MeSH | D029503 |
Diamond-Blackfan anemia Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Diamond-Blackfan anemia On the Web |
American Roentgen Ray Society Images of Diamond-Blackfan anemia |
Risk calculators and risk factors for Diamond-Blackfan anemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia
Overview
Historical Perspective
Pathophysiology
Causes
- A mutation in the RPS19 gene is the cause of DBA in about 25% of patients.
- Mutations in RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26, and rarely in RPL15, RPL17, RPL19, RPL26, RPL27, RPL31, RPS15A, RPS20, RPS27, RPS28, RPS29 have also been found.[1]
- Mutation in non-RP genes, TSR2, GATA1, and EPO.[1]
- 20 percent of patients still have no known genetic cause.[1]
Differentiating Diamond-Blackfan anemia from other Diseases
- Aplastic anemia
- Fanconi anemia
Epidemiology and Demographics
- Classical Diamond-Blackfan anemia (DBA) affects about seven per million live births per year. Thus in the United States, with 4 million live births per year, each year approximately 25-35 new patients will be diagnosed.[2]
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
- The diagnosis is established when all four of the following diagnostic criteria are present:[2][3]
- Age younger than one year
- Macrocytic anemia with no other significant cytopenias
- Reticulocytopenia
- Normal marrow cellularity with a paucity of erythroid precursors
Treatment
Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
External Links
- ↑ 1.0 1.1 1.2 Da Costa L, Narla A, Mohandas N (2018). "An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia". F1000Res. 7. doi:10.12688/f1000research.15542.1. PMC 6117846. PMID 30228860.
- ↑ 2.0 2.1 Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM (September 2008). "Diagnosing and treating Diamond Blackfan anemia: results of an international clinical consensus conference". Br. J. Haematol. 142 (6): 859–76. doi:10.1111/j.1365-2141.2008.07269.x. PMC 2654478. PMID 18671700.
- ↑ Vlachos A, Muir E (November 2010). "How I treat Diamond-Blackfan anemia". Blood. 116 (19): 3715–23. doi:10.1182/blood-2010-02-251090. PMC 2981532. PMID 20651069.