Erythrocyte adenosine deaminase: Diagnostic value for Diamond-Blackfan anaemia

British Journal of Haematology

Volumn 160, Issue 4, 2013, Pages 547-554

  Fargo, John H ^a,b   Kratz, Christian P ^a   Giri, Neelam ^a   Savage, Sharon A ^a   Wong, Carolyn ^c   Backer, Karen ^c   Alter, Blanche P ^a   Glader, Bertil ^c  

^a NATIONAL CANCER INSTITUTE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Bone marrow failure; Diamond Blackfan anaemia; Erythrocyte adenosine deaminase; Ribosomopathy

Indexed keywords

ADENOSINE DEAMINASE; ERYTHROCYTE ADENOSINE DEAMINASE; ERYTHROPOIETIN; FANCONI ANEMIA GROUP A PROTEIN; HEMOGLOBIN F; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLACKFAN DIAMOND ANEMIA; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DYSKERATOSIS CONGENITA; FANCA GENE; FANCONI ANEMIA; FEMALE; FIRST DEGREE RELATIVE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MACROCYTIC ANEMIA; MALE; MEAN CORPUSCULAR VOLUME; PATIENT CODING; PREDICTIVE VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHWACHMAN SYNDROME;

ADENOSINE DEAMINASE; ADOLESCENT; ADULT; ANEMIA, DIAMOND-BLACKFAN; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTES; ERYTHROPOIETIN; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SENSITIVITY AND SPECIFICITY; SEX FACTORS; YOUNG ADULT;

EID: 84873091956     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12167     Document Type: Article

References (32)

1. Alter, B.P., Joenje, H., Oostra, A.B. & Pals, G. (2005) Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Archives of Otolaryngology-Head and Neck Surgery, 131, 635-639.
2. Alter, B.P., Baerlocher, G.M., Savage, S.A., Chanock, S.J., Weksler, B.B., Willner, J.P., Peters, J.A., Giri, N. & Lansdorp, P.M. (2007) Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood, 110, 1439-1447.
3. Alter, B.P., Rosenberg, P.S., Giri, N., Baerlocher, G.M., Lansdorp, P.M. & Savage, S.A. (2012) Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica, 97, 353-359.
4. Auerbach, A.D., Ghosh, R., Pollio, P.C. & Min, Z.(1989) Diepoxybutane (DEB) test for prenatal and postnatal diagnosis of Fanconi anemia. In: Fanconi Anemia Clinical Cytogenetic and Experimental Aspects (ed. by T.M. Schroeder, A.D. Auerbach & G. Obe ), pp. 71-82. Springer- Verlag, Heidelberg.
5. Boocock, G.R., Morrison, J.A., Popovic, M., Richards, N., Ellis, L., Durie, P.R. & Rommens, J.M. (2003) Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nature Genetics, 33, 97-101.
6. Boria, I., Garelli, E., Gazda, H.T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J.J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., Simansour, M., Dahl, N., Frojmark, A.S., Pospisilova, D., Cmejla, R., Beggs, A.H., Sheen, M.R., Landowski, M., Buros, C.M., Clinton, C.M., Dobson, L.J., Vlachos, A., Atsidaftos, E., Lipton, J.M., Ellis, S.R., Ramenghi, U. & Dianzani, I. (2010) The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Human Mutation, 31, 1269-1279.
7. Brugnara, C., Oski, F.A. & Nathan, D.G.(2009) Disorders of erythrocyte production. In: Nathan and Oski's Hematology of Infancy and Childhood, 7th edn (eds. by S.H. Orkin, D.G. Nathan, D. Ginsburg, A.T. Look, D.E. Fisher & S.E. Lux IV ), p.1774. WB Saunders, Philadelphia, PA.
8. Cervenka, J., Arthur, D. & Yasis, C. (1981) Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics, 67, 119-127.
9. Chandra, S., Levran, O., Jurickova, I., Maas, C., Kapur, R., Schindler, D., Henry, R., Milton, K., Batish, S.D., Cancelas, J.A., Hanenberg, H., Auerbach, A.D. & Williams, D.A. (2005) A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Molecular Therapy: The Journal of the American Society of Gene Therapy, 12, 976-984.
10. Cowan, M.J., Brady, R.O. & Widder, K.J. (1986) Elevated erythrocyte adenosine deaminase activity in patients with acquired immunodeficiency syndrome. Proceedings of the National Academy of Sciences of the United States of America, 83, 1089-1091.
11. Diamond, L.K. & Blackfan, K.D. (1938) Hypoplastic anemia. American Journal of Diseases of Children, 56, 464-466.
12. Diamond, L.K., Wang, W.C. & Alter, B.P. (1976) Congenital hypoplastic anemia. Advances in Pediatrics, 22, 349-378.
13. Eiler, M., Frohnmayer, D., Frohnmayer, L., Larsen, K. & Owen, J. (2005) Fanconi anemia: Standards for clinical care. Fanconi Anemia Research Fund, Inc, Eugene, OR.
14. Farrar, J.E., Vlachos, A., Atsidaftos, E., Carlson-Donohoe, H., Markello, T.C., Arceci, R.J., Ellis, S.R., Lipton, J.M. & Bodine, D.M. (2011) Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood, 118, 6943-6951.
15. Glader, B.E. & Backer, K. (1988) Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. British Journal of Haematology, 68, 165-168.
16. Glader, B.E., Backer, K. & Diamond, L.K. (1983) Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. New England Journal of Medicine, 309, 1486-1490.
17. Ip, W.F., Dupuis, A., Ellis, L., Beharry, S., Morrison, J., Stormon, M.O., Corey, M., Rommens, J.M. & Durie, P.R. (2002) Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. The Journal of Pediatrics, 141, 259-265.
18. di Marco, P., Tinnirello, D., Tambone-Reyes, M., Tedesco, L., Luna, S. & Citarella, P. (1992) Biologic relevance of elevated red cell adenosine deaminase activity in myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria. Tumori, 78, 370-373.
19. Orfali, K.A., Ohene-Abuakwa, Y. & Ball, S.E. (2004) Diamond-Blackfan anaemia in the UK: clinical and genetic heterogeneity. British Journal of Haematology, 125, 243-252.
20. Ramenghi, U., Garelli, E., Valtolina, S., Campagnoli, M.F., Timeus, F., Crescenzio, N., Mair, M., Varotto, S., D'Avanzo, M., Nobili, B., Massolo, F., Mori, P.G., Locatelli, F., Gustavsson, P., Dahl, N. & Dianzani, I. (1999) Diamond-Blackfan anaemia in the Italian population. British Journal of Haematology, 104, 841-848.
21. Rothbaum, R., Perrault, J., Vlachos, A., Cipolli, M., Alter, B.P., Burroughs, S., Durie, P., Elghetany, M.T., Grand, R., Hubbard, V., Rommens, J. & Rossi, T. (2002) Shwachman-Diamond syndrome: report from an international conference. The Journal of Pediatrics, 141, 266-270.
22. Sanchez-Corona, J., Garcia-Cruz, D., Medina, C., Cantu, J.M., Ramos-Zepeda, R. & Rivas, F. (1990) Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia. Annales De Genetique, 33, 99-102.
23. Sankaran, V.G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.A., Beggs, A.H., Sieff, C.A., Orkin, S.H., Nathan, D.G., Lander, E.S. & Gazda, H.T. (2012) Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal of Clinical Investigation, 122, 2439-2443.
24. Savage, S.A. & Alter, B.P. (2009) Dyskeratosis congenita. Hematology/Oncology Clinics of North America, 23, 215-231.
25. Shimamura, A. & Alter, B.P. (2010) Pathophysiology and management of inherited bone marrow failure syndromes. Blood Reviews, 24, 101-122.
26. Vlachos, A. & Muir, E. (2010) How i treat Diamond-Blackfan anemia. Blood, 116, 3715-3723.
27. Vlachos, A., Ball, S., Dahl, N., Alter, B.P., Sheth, S., Ramenghi, U., Meerpohl, J., Karlsson, S., Liu, J.M., Leblanc, T., Paley, C., Kang, E.M., Leder, E.J., Atsidaftos, E., Shimamura, A., Bessler, M., Glader, B. & Lipton, J.M. & Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. (2008) Diagnosing and treating Diamond-Blackfan anaemia: results of an international clinical consensus conference. British Journal of Haematology, 142, 859-876.
28. Vlachos, A., Rosenberg, P.S., Atsidaftos, E., Alter, B.P. & Lipton, J.M. (2012) Incidence of neoplasia in Diamond-Blackfan anemia: a report from the Diamond-Blackfan anemia registry. Blood, 119, 3815-3819.
29. Vulliamy, T.J., Marrone, A., Knight, S.W., Walne, A., Mason, P.J. & Dokal, I. (2006) Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood, 107, 2680-2685.
30. Whitehouse, D.B., Hopkinson, D.A. & Evans, D.I. (1984) Adenosine deaminase activity in Diamond-Blackfan syndrome. Lancet, 2, 1398-1399.
31. Whitehouse, D.B., Hopkinson, D.A., Pilz, A.J. & Arredondo, F.X. (1986) Adenosine deaminase activity in a series of 19 patients with the Diamond-Blackfan syndrome. Advances in Experimental Medicine and Biology, 195 Pt A8, 5-92.
32. Willig, T.N., Perignon, J.L., Gustavsson, P., Gane, P., Draptchinskaya, N., Testard, H., Girot, R., Debre, M., Stephan, J.L., Chenel, C., Cartron, J.P., Dahl, N. & Tchernia, G. (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 societe d'immunologie pediatrique (SHIP). Blood, 92, 4422-4427.