title: Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
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.
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: John H
authors.initials: JH
authors.lastname: Fargo
authors.forename: Christian P
authors.initials: CP
authors.lastname: Kratz
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
authors.forename: Carolyn
authors.initials: C
authors.lastname: Wong
authors.forename: Karen
authors.initials: K
authors.lastname: Backer
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.forename: Bertil
authors.initials: B
authors.lastname: Glader
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000201:enzymology*; D004921:Erythropoietin / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012680:Sensitivity and Specificity; D012737:Sex Factors; D055815:Young Adult
chemical_list: D015415:Biomarkers; D004921:Erythropoietin; D000243:Adenosine Deaminase