Diamond-Blackfan anemia laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
'''Blood tests:''' | |||
*Increased red-cell [[mean corpuscular volume]] ([[MCV]]) | |||
*[[Reticulocytopenia]] | |||
*Elevated erythrocyte [[adenosine deaminase]] activity([[eADA]]) | |||
**DBA is associated with an increased ADA activity 30– 33%. ADA is a critical enzyme of the purine salvage pathway, which enables the deamination of adenosine in inosine and 2'-deoxyadenosine deamination in deoxyinosine. It is also increased in some leukemias, lymphomas, and immune system disorders.<ref name="pmid3348976">{{cite journal |vauthors=Glader BE, Backer K |title=Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases |journal=Br. J. Haematol. |volume=68 |issue=2 |pages=165–8 |date=February 1988 |pmid=3348976 |doi=10.1111/j.1365-2141.1988.tb06184.x |url=}}</ref> <ref name="pmid9834249">{{cite journal |vauthors=Willig TN, Pérignon JL, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan JL, Chenel C, Cartron JP, Dahl N, Tchernia G |title=High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP) |journal=Blood |volume=92 |issue=11 |pages=4422–7 |date=December 1998 |pmid=9834249 |doi= |url=}}</ref> | |||
*Elevated [[hemoglobin F]] ([[HbF]]) concentration | |||
'''Genetic tests''' | |||
1. A sequence analysis of RPS19 is performed first. | |||
2. If no pathogenic variant in RPS19 is found, perform sequence analysis of the remaining pathologic variants which are known to cause DBA or other gene mutations.<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | |||
'''Bone marrow aspirate''' | '''Bone marrow aspirate''' | ||
*Normal marrow cellularity | *Normal marrow cellularity | ||
*Erythroid hypoplasia | *[[Erythroid]] [[hypoplasia]] | ||
*Marked reduction in normoblasts | *Marked reduction in [[normoblasts]] | ||
*Persistence of pronormoblasts on occasion | *Persistence of pronormoblasts on occasion | ||
*Normal myeloid precursors and megakaryocytes<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | *Normal [[myeloid]] [[precursors]] and [[megakaryocytes]]<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref> | ||
'''Other tests''' | |||
*Additional blood tests or genetic tests such as [[exome sequencing]], [[genome sequencing]], and mitochondrial sequencing may be ordered to rule out other types of anemia or other disorders. | |||
*Diagnosis of related-therapies complications: | |||
**Monitoring Transfusional Iron Overload with serum [[ferritin]] and [[Iron]] level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes: | |||
***Total T3 | |||
***Total T4 | |||
***TSH | |||
***T3 uptake (instead of free T4) | |||
***IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake) | |||
***NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure) | |||
***Antithyroid Abs (Antithyroglobulin and AntiThyroperoxidase) | |||
***Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons) | |||
***Vitamin D | |||
==References== | ==References== | ||
Revision as of 23:53, 7 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
A diagnosis of DBA is made on the basis of anemia, low reticulocyte (immature red blood cells) counts, and diminished erythroid precursors in bone marrow. Features that support a diagnosis of DBA include the presence of congenital abnormalities, macrocytosis, elevated fetal hemoglobin, and elevated adenosine deaminase levels in red blood cells. Most patients are diagnosed in the first two years of life. However, some mildly affected individuals only receive attention after a more severely affected family member is identified. About 20-25% of DBA patients may be identified with a genetic test for mutations in the RPS19 gene.
Laboratory Findings
Blood tests:
- Increased red-cell mean corpuscular volume (MCV)
- Reticulocytopenia
- Elevated erythrocyte adenosine deaminase activity(eADA)
- DBA is associated with an increased ADA activity 30– 33%. ADA is a critical enzyme of the purine salvage pathway, which enables the deamination of adenosine in inosine and 2'-deoxyadenosine deamination in deoxyinosine. It is also increased in some leukemias, lymphomas, and immune system disorders.[1] [2]
- Elevated hemoglobin F (HbF) concentration
Genetic tests
1. A sequence analysis of RPS19 is performed first.
2. If no pathogenic variant in RPS19 is found, perform sequence analysis of the remaining pathologic variants which are known to cause DBA or other gene mutations.[3]
Bone marrow aspirate
- Normal marrow cellularity
- Erythroid hypoplasia
- Marked reduction in normoblasts
- Persistence of pronormoblasts on occasion
- Normal myeloid precursors and megakaryocytes[3]
Other tests
- Additional blood tests or genetic tests such as exome sequencing, genome sequencing, and mitochondrial sequencing may be ordered to rule out other types of anemia or other disorders.
- Diagnosis of related-therapies complications:
- Monitoring Transfusional Iron Overload with serum ferritin and Iron level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes:
- Total T3
- Total T4
- TSH
- T3 uptake (instead of free T4)
- IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake)
- NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure)
- Antithyroid Abs (Antithyroglobulin and AntiThyroperoxidase)
- Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons)
- Vitamin D
- Monitoring Transfusional Iron Overload with serum ferritin and Iron level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes:
References
- ↑ Glader BE, Backer K (February 1988). "Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases". Br. J. Haematol. 68 (2): 165–8. doi:10.1111/j.1365-2141.1988.tb06184.x. PMID 3348976.
- ↑ Willig TN, Pérignon JL, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan JL, Chenel C, Cartron JP, Dahl N, Tchernia G (December 1998). "High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP)". Blood. 92 (11): 4422–7. PMID 9834249.
- ↑ 3.0 3.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Clinton C, Gazda HT. PMID 20301769. Vancouver style error: initials (help); Missing or empty
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