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Comparative Study
. 2013 Feb;160(4):547-54.
doi: 10.1111/bjh.12167. Epub 2012 Dec 17.

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

John H Fargo  1 , Christian P Kratz, Neelam Giri, Sharon A Savage, Carolyn Wong, Karen Backer, Blanche P Alter, Bertil Glader
Affiliations
Comparative Study

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

John H Fargo et al. Br J Haematol. 2013 Feb.

Abstract

Diamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterized by red cell aplasia. Mutations in ribosomal genes are found in more than 50% of cases. Elevated erythrocyte adenosine deaminase (eADA) was first noted in DBA in 1983. In this study we determined the value of eADA for the diagnosis of DBA compared with other IBMFS; the association of eADA in DBA with age, gender or other haematological parameters; and the association with known DBA-related gene mutations. For the diagnosis of DBA compared with non-DBA patients with other bone marrow failure syndromes, eADA had a sensitivity of 84%, specificity 95%, and positive and negative predictive values of 91%. In patients with DBA there was no association between eADA and gender, age, or other haematological parameters. Erythrocyte ADA segregated with, as well as independent of, known DBA gene mutations. While eADA was an excellent confirmatory test for DBA, 16% of patients with classical clinical DBA had a normal eADA.

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Conflict of interest statement

Conflict-of-interest: All authors declare no competing financial interests.

Figures

Figure 1
Figure 1. Comparison of eADA in the study population
Symbols represent individual subjects within the patient groups. Bold horizontal axis line is the eADA upper limit of normal of 0.99 iu/g of Hb. “Total Non-DBA Patients” is the entire group, followed by individual classifications “DC”, “FA”, “SDS”, and “Other”. DBA, Diamond-Blackfan anaemia; eADA, erythrocyte adenosine deaminase; Hb, haemoglobin; DC, dyskeratosis congenita; FA, Fanconi anaemia; SDS, Shwachman-Diamond syndrome. Note that 1 each of DC, FA, and SDS, and 5 DBA relatives have an eADA above 1 iu/g of Hb.
Figure 2
Figure 2. Association of DBA gene mutation and eADA
“Unknown”, those in whom no DBA gene mutations have been identified. Note that 1 patient with an RPS19 mutation and 5 patients with an unknown mutation have normal eADA.
Figure 3
Figure 3. eADA segregating with and independent of DBA gene mutation
(A) In Family 168 eADA segregates with gene mutation and (B) in Family 117 eADA is independent of gene mutation. Shaded, subjects diagnosed with DBA. Arrow, eADA ≥ 1 iu/g of Hb. The measured eADA level and DBA gene mutation status are displayed below each subject. Wild type, targeted sequencing for the 9 known ribosomal gene mutations in DBA showed no abnormalities.
Figure 3
Figure 3. eADA segregating with and independent of DBA gene mutation
(A) In Family 168 eADA segregates with gene mutation and (B) in Family 117 eADA is independent of gene mutation. Shaded, subjects diagnosed with DBA. Arrow, eADA ≥ 1 iu/g of Hb. The measured eADA level and DBA gene mutation status are displayed below each subject. Wild type, targeted sequencing for the 9 known ribosomal gene mutations in DBA showed no abnormalities.
See this image and copyright information in PMC

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