Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: A case study and literature review of Korean patients

Korean Journal of Laboratory Medicine

Volumn 30, Issue 3, 2010, Pages 249-254

  Chae, Hyojin ^a   Park, Jconhong ^a   Kim, Myungshin ^a   Lim, Jihyang ^a   Kim, Yonggoo ^a   Han, Kyungja ^a   Lee, Jaewook ^a   Chung, Nak Gyun ^a   Cho, Bin ^a   Kim, Hack Ki ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

Diamond Blackfan anemia; RPS19; Sequencing analysis

Indexed keywords

RIBOSOMAL PROTEIN S19; RIBOSOME PROTEIN;

ASIAN; BLACKFAN DIAMOND ANEMIA; BONE MARROW; CASE REPORT; DNA SEQUENCE; ERYTHROCYTE TRANSFUSION; EXON; GENETICS; HUMAN; INFANT; PATHOLOGY; POINT MUTATION; REVIEW; SOUTH KOREA;

ANEMIA, DIAMOND-BLACKFAN; ASIAN CONTINENTAL ANCESTRY GROUP; BONE MARROW; ERYTHROCYTE TRANSFUSION; EXONS; HUMANS; INFANT; POINT MUTATION; REPUBLIC OF KOREA; RIBOSOMAL PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 77955497490     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2010.30.3.249     Document Type: Review

References (32)

1. Diamond LK and Blackfan KD. Hypoplastic anemia. Am J Dis Child 1938;56:464-7.
2. Campagnoli MF, Garelli E, Quarello P, Garando A, Varotto S, Nobili B, et al. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica 2004;89:480-9. (Pubitemid 38798553)
3. Diamond LK, Wang WC, Alter BP. Congenital hypoplastic anemia. Adv Pediatr 1976;22:349-78.
4. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 2008;142:859-76.
5. Orfali KA, Ohene-Abuakwa Y, Ball SE Diamond Blackfan anaemia in the UK- clinical and genetic heterogeneity. Br J Haematol 2004;125: 243-52
6. Campagnoli MF, Ramenghi U, Armiraglio M Quarello P, Garelli E, Garando A, et al. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat 2008;29:911-20.
7. Lee HY, Sydow Gv, Savosnick R. A case of congenital hypoplastic anemia J Korean Pediatr Soc 1962;3:66-70.
8. Shin CB and Whang KS. A case of congenital hypoplastic anemia. J Korean Med Assoc 1966;9:531-5
9. Park SW, Shin SM, Shin AR, Ko KW, Hong CY. Congenital hypoplastic anemia (Blackfan-Diamond syndrome). Korean J Hematol 1974; 9:19-25.
10. Lee GR, Kim HS, Park MJ, Ahn DH. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1975;16:73-7.
11. Kim GP, Lee KS, Cha SD, Lee DB, Kim SM Lee CM A case report of congenital pure red cell anemia. Korean J Hematol 1976;11:39-45.
12. Kim DS, Lee C, Lee HK, Kim KY, Yun DJ. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1980;23:771-5.
13. Lee MH and Ahn HS. A case report of congenital hypoplastic anemia. New Med J 1982;25:31-5.
14. Woo YJ, Ma JS, Hwang TJ. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1983;26:188-92
15. Jung HG, Whang TG, Park IS, Kim CH, Lee SY. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1983;26:279-83.
16. Byun JI, Kim DW, Hong MG, Oh CK, Yang MK. A case of congenital hypoplastic anemia. New Med J 198427:121-5.
17. Lee SJ, Cho MC, Cho KS, Moon DS, Cho CD. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1985;28:61-4.
18. Kwon HJ, Lee MH, Choi JH, Ahn HS, Hong CY. Three cases of congenital hypoplastic anemia. J Korean Pediatr Soc 1985;28:89-95.
19. Hwang CH, Kang SH, Yang CH, Kim KY. A case of congenital hypoplastic anemia. Korean J Hematol 1989;24:187-93.
20. Lee JW, Kang SO, Kim JS, Kang IJ, Chung SY. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1989; 2724-9.
21. Kim KH Lee DS, Lee SB, Lee KS, Lee KB, Whang KS. A case of congenital hypoplastic anemia. Kyungpook Univ Med J 1989;30:79-85.
22. Kang HW, Joo NH, Byun SO, Oh JS. A case of congenital hypoplastic anemia. J Korean Pediatr Soc 1990;33:416-21.
23. Lee JM and Kim HJ. A case of congenital pure red cell anemia. Korean J Clin Pathol 1994;14:135-41.
24. Son YJ, Baek HJ, Kook H. Diamond-Blackfan anemia: long-term follow-up of six cases. Korean J Pediatr 2008;51:1211-4
25. Lipton JM Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer 2006;46:558-64.
26. Chen S, Warszawski J, Bader-Meunier B, Tchernia G, Da Costa L, Marie I, et al. Diamond-blackfan anemia and growth status: the French registry. J Pediatr 2005;147:669-73.
27. Bessler M, Mason PJ, Link DC, Wilson DB. Inherited bone marrow failure syndromes associated with isolated cytopenias. In: Orkin SH, Nathan DG, et aL eds. Nathan and Oski's hematology of infancy and childhood. 7th ed. Philadelphia: Saunders Elsevier, 2009:351-60.
28. Liu JM and Ellis SR. Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood 2006;107:4583-8.
29. Proust A, Da Costa L, Rince P, Landois A, Tamary H, Zaizov R, et al. Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. Hematol J 2003;4:132-6.
30. Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, et aL Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian populatioa Blood Cells Mol Dis 2000;26:417-22.
31. Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood 1999;94:4294-306.
32. Kerem E. Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy. Pediatr Pulmonol 2005;40:183-96.