Diamond-Blackfan anemia history and symptoms: Difference between revisions
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The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life | The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life | ||
*Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor). | *Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor). | ||
*Approximately half of DBA cases have [[Congenital]] malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%): | *Approximately half of DBA cases have [[Congenital]] malformations, in particular [[craniofacial]], upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%): | ||
**Microcephaly | **Microcephaly | ||
**low frontal hairline | **low frontal hairline | ||
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**Droopy eyelids ([[ptosis]]) | **Droopy eyelids ([[ptosis]]) | ||
**Broad, flat bridge of the nose | **Broad, flat bridge of the nose | ||
**Small, low-set ears | **Small, [[low-set ears]] | ||
**Small lower jaw (micrognathia) | **Small lower jaw (micrognathia) | ||
**Cleft palate | **[[Cleft palate]] | ||
**Cleft lip | **[[Cleft lip]] | ||
**Short, webbed neck | **Short, [[webbed neck]] | ||
**Smaller and higher shoulder blades than usual | **Smaller and higher shoulder blades than usual | ||
**Malformed or absent thumbs | **Malformed or absent thumbs | ||
**All diagnostic criteria are met. | **All diagnostic criteria are met. | ||
*'''Non-classic DBA:''' | *'''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 | **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. | 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. | Minimal or no evidence of congenital anomalies or short stature. | ||
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Overview
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. 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.
Diamond-Blackfan anemia history and symptoms
History The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life. A positive family history of DBA is suggestive of DBA. The most common symptoms of DBA include
- Symptoms of anemia include pallor, irritability, failure to thrive, sleepiness, poor appetite, and weakness[1]
Symptoms
- Symptoms of anemia (pallor, irritability, fatigue, 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.
Classic DBA: The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life
- Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
- 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.
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.