Diamond-Blackfan anemia laboratory findings

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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.

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

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]

↑ 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 |title= (help)