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
Symptoms of anemia include pallor, irritability, failure to thrive, sleepiness, poor appetite, and weakness.Growth retardation (in about 30% ),Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(~30%-50%).The severity of Diamond-Blackfan anemia may vary, even within the same family.
Diamond-Blackfan anemia history and symptoms
History
Symptoms
- Symptoms of anemia include pallor, irritability, failure to thrive, sleepiness, poor appetite, and weakness[1]
- Growth retardation (in about 30% )
- Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(~30%-50%):
The severity of Diamond-Blackfan anemia may vary, even within the same family.
Classic DBA: Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor). The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%): Microcephaly low frontal hairline Wide-set eyes (hypertelorism) Droopy eyelids (ptosis) Broad, flat bridge of the nose Small, low-set ears Small lower jaw (micrognathia) Cleft palate Cleft lip Short, webbed neck Smaller and higher shoulder blades than usual Malformed or absent thumbs All diagnostic criteria are met. Non-classic DBA: presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. Minimal or no evidence of congenital anomalies or short stature[3]
References
- ↑ 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.