Diamond-Blackfan anemia history and symptoms: Difference between revisions
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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. | 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. | 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. | ||
==Diagnosis== | |||
*Diagnosing DBA is usually hard due to its partial phenotypes and the wide inconsistency of clinical expressions. the International Clinical Consensus Conference stated diagnostic and supporting criteria for the diagnosis of DBA.<ref name="pmid18671700">{{cite journal |vauthors=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 |title=Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference |journal=Br. J. Haematol. |volume=142 |issue=6 |pages=859–76 |date=September 2008 |pmid=18671700 |pmc=2654478 |doi=10.1111/j.1365-2141.2008.07269.x |url=}}</ref> | |||
*'''Diagnostic criteria''' | |||
**Normochromic, often [[macrocytic anemia]] developing in the first year of life | |||
**Profound [[reticulocytopenia]] | |||
**Normocellular bone marrow with selective deficiency of [[erythroid]] precursors | |||
**Normal or slightly reduced [[leukocyte]] count | |||
**Normal or slightly increased [[platelet]] count | |||
*'''Major supporting criteria''' | |||
**Gene mutation described in ‘‘classical’’ DBA | |||
**Positive family history | |||
*'''Minor supporting criteria''' | |||
**Elevated erythrocyte [[adenosine deaminase]] activity | |||
**Congenital anomalies described in ‘‘classical’’ DBA | |||
**Elevated HbF | |||
**No evidence of another inherited bone marrow failure syndrome | |||
__NOTOC__ | |||
<br /> | |||
{| class="wikitable" | |||
|+ | |||
|'''Classical DBA''' | |||
All diagnostic criteria are met | |||
'''Probable DBA''' | |||
3 Diagnostic criteria + positive family history | |||
OR | |||
2 Diagnostic criteria + 3 minor criteria | |||
OR | |||
3 Minor criteria + positive family history | |||
'''Non-classical DBA''' | |||
DBA associated gene mutation without sufficient diagnostic criteria | |||
|} | |||
==Diamond-Blackfan anemia history and symptoms== | ==Diamond-Blackfan anemia history and symptoms== | ||
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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.
Diagnosis
- Diagnosing DBA is usually hard due to its partial phenotypes and the wide inconsistency of clinical expressions. the International Clinical Consensus Conference stated diagnostic and supporting criteria for the diagnosis of DBA.[1]
- Diagnostic criteria
- Normochromic, often macrocytic anemia developing in the first year of life
- Profound reticulocytopenia
- Normocellular bone marrow with selective deficiency of erythroid precursors
- Normal or slightly reduced leukocyte count
- Normal or slightly increased platelet count
- Major supporting criteria
- Gene mutation described in ‘‘classical’’ DBA
- Positive family history
- Minor supporting criteria
- Elevated erythrocyte adenosine deaminase activity
- Congenital anomalies described in ‘‘classical’’ DBA
- Elevated HbF
- No evidence of another inherited bone marrow failure syndrome
| Classical DBA
All diagnostic criteria are met
3 Diagnostic criteria + positive family history OR 2 Diagnostic criteria + 3 minor criteria OR 3 Minor criteria + positive family history
DBA associated gene mutation without sufficient diagnostic criteria |
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[2]
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
- ↑ 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 anaemia: 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.
- ↑ 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.