Diamond-Blackfan anemia history and symptoms
|
Diamond-Blackfan anemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Diamond-Blackfan anemia history and symptoms On the Web |
|
American Roentgen Ray Society Images of Diamond-Blackfan anemia history and symptoms |
|
Risk calculators and risk factors for Diamond-Blackfan anemia history and symptoms |
Overview
Diamond-Blackfan anemia history and symptoms
History
- DBA typically presents in infancy, most commonly with pallor and lethargy, median age at presentation is 8 weeks. Hydrops fetalis in some cases have been seen.[1][2]
Symptoms
- Symptoms of anemia include pallor, irritability, failure to thrive, sleepiness, poor appetite, and weakness[3]
- Growth retardation (in about 30% )
- Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(~30%-50%):
References
- ↑ Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R (February 2013). "First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia". Am. J. Hematol. 88 (2): 160. doi:10.1002/ajh.23366. PMID 23349008.
- ↑ Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW (June 2018). "Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia". Haematologica. 103 (6): 949–958. doi:10.3324/haematol.2017.177980. PMC 6058779. PMID 29599205.
- ↑ 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.