Diamond-Blackfan anemia laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
Laboratory findings consistent with the [[diagnosis]] of [[DBA]] include low [[reticulocyte]] (immature red blood cells) counts and diminished [[erythroid]] [[Progenitors|precursors]] in the [[bone marrow]]. [[Blood tests]], [[Genetic test|genetic tests]], and [[bone marrow aspiration]] could help in the [[diagnosis]] of [[DBA]]. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
===Blood tests:=== | |||
*Increased red-cell [[mean corpuscular volume]] ([[MCV]]) | *Increased red-cell [[mean corpuscular volume]] ([[MCV]]) | ||
*[[Reticulocytopenia]] | *[[Reticulocytopenia]] | ||
*Elevated erythrocyte [[adenosine deaminase]] activity([[eADA]]) | *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> | **[[DBA]] is associated with an increased [[Adenine deaminase|ADA]] activity 30– 33%. [[Adenine deaminase|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 | *Elevated [[hemoglobin F]] ([[HbF]]) [[concentration]] | ||
===Genetic tests=== | |||
1. A sequence analysis of RPS19 is performed first. | 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> | 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 mutation|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=== | |||
*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 [[pronormoblast|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> | ||
==References== | ==References== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Laboratory findings consistent with the diagnosis of DBA include low reticulocyte (immature red blood cells) counts and diminished erythroid precursors in the bone marrow. Blood tests, genetic tests, and bone marrow aspiration could help in the diagnosis of DBA.
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]
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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