Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene

Annals of Hematology

Volumn 87, Issue 9, 2008, Pages 751-754

  Ru, Yong Xi ^a   Zhu, Xiao Fan ^a   Yan, Wen Wei ^a   Gao, Jing Tao ^a   Schwarz, Klaus ^b   Heimpel, Hermann ^b  

^a INSTITUTE OF HEMATOLOGY AND BLOOD DISEASES HOSPITAL   (China)

^b UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

CDA I; CDAN1 gene; Chinese; Compound mutation

Indexed keywords

CHROMOSOME PROTEIN; GENOMIC DNA; PROTEIN CDAN1;

ARTICLE; BLOOD CELL COUNT; BLOOD SMEAR; BONE MARROW BIOPSY; CASE REPORT; CHINESE; CHROMATIN STRUCTURE; CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 1; FOOT RADIOGRAPHY; GENE MUTATION; GENOTYPE; HEMOGLOBIN DETERMINATION; HETEROCHROMATIN; HETEROZYGOSITY; HUMAN; INFANT; LABORATORY TEST; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY; TRANSMISSION ELECTRON MICROSCOPY;

ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; BONE MARROW CELLS; CHINA; ERYTHROBLASTS; FEMALE; GLYCOPROTEINS; HUMANS; MALE; MUTATION; NUCLEAR FAMILY;

EID: 48649088307     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0519-3     Document Type: Article

References (23)

1. Ahmed MR, Zaki M, Sabry MA, Higgs D, Vyas P, Wood WG et al (2006) Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I. Br J Haematol 133:444-445, doi: 10.1111/ j.1365-2141.2006.06089.x
2. Bader-Meunier B, Leverger G, Tchernia G, Schischmanoff O, Cynober T, Bernaudin F et al (2005) Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in a cohort of French children. J Pediatr Hematol Oncol 27:416-419, doi: 10.1097/ 01.mph.0000175406.42427.c9
3. Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H et al (2002) Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 71:1467-1474, doi: 10.1086/344781
4. Ghosh K, Mohanty D, Bhagwat AG, Das KC (1985) Congenital dyserythropoietic anaemia (CDA) type I-a case report with ultrastructural study. Folia Haematol (Frankf) 112:716-722
5. Goede JS, Benz R, Fehr J, Schwarz K, Heimpel H (2006) Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. Ann Hematol 85:591-595, doi: 10.1007/s00277-006-0143-z
6. Heimpel H, Forteza-Vila J, Queisser W, Spiertz E (1971) Electron and light microscopic study of the erythropoiesis of patients with congenital dyserythropoietic anemia. Blood 37:299-310, Medline 299-310,
7. Heimpel H, Iolascon A (2006) Congenital dyserythropoietic anemia. In: Beaumont C, Beris Ph, Beuzard Y, Brugnara C (eds) Disorders of homeostasis, erythrocytes, erythropoiesis. European School of Haematology, Paris, pp 120-142
8. Heimpel H, Maier K (1999) Congenital dyserythropoietic anemia: A first approach to epidemiology. Haematologica 84 (EHA-abstracts), 194
9. Heimpel H, Schwarz K, Ebnöther M, Goede J, Heydrich D, Kamp T et al (2006) Congenital dyserythropoietic anemia type I (CDA I): Molecular genetics, clinical appearance and prognosis based on long-term observation. Blood 107:334-340, doi: 10.1182/blood-2005-01-0421
10. Hiraoka A, Kanayama Y, Yonezawa T, Kitani T, Tarui S, Hashimoto PH (1983) Congenital dyserythropoietic anemia type I: A freeze-fracture and thin section electron microscopic study. Blut 46:329-338, doi: 10.1007/ BF00320693
11. Kato K, Sugitani M, Kawataki M, Ohyama M, Aida N, Koga N et al (2001) Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia. J Pediatr Hematol Oncol 23:63-66, doi: 10.1097/ 00043426-200101000-00016
12. Kuribayashi T, Uchida S, Kuroume kT, Umegae S, Omine M, Maekawa T, Kuroume T (1979) Congenital dyserythropoietic anemia type I: Report of a pair of siblings in Japan. Blut 39:201-209, doi: 10.1007/BF01008449
13. Lavabre-Bertrand T, Ramos J, Delfour C, Henry L, Guiraud I, Carillo S et al (2004) Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I. Eur J Haematol 73:380-383, doi: 10.1111/j.1600-0609.2004.00310.x
14. Parez N, Dommergues M, Zupan V, Chambost H, Fieschi JB, Delaunay J et al (2000) Severe congenital dyserythropoietic anaemia type I: Prenatal management, transfusion support and alpha-interferon therapy. Br J Haematol 110:420-423, doi: 10.1046/j.1365-2141.2000.02168.x
15. Roda L, Pasche J, Fournier A, Terorotua V, Wickramasinghe SN, Tamary H et al (2002) Congenital dyserythropoietic anemia, type 1, in a polynesian patient: Response to interferon alpha2b. J Pediatr Hematol Oncol 24:503-506, doi: 10.1097/00043426-200208000-00020
16. Ru YX, Zhu XF, Zhao SY, Liu JH, Zhong S (2007) Ultrastructural characteristics of congenital dyserythropoietic anemia-type I. Zhongguo Shi Yan Xue Ye Xue Za Zhi 15:117-120, Medline
17. Shalev H, Kapelushnik J, Moser A, Dgany O, Krasnov T, Tamary H (2004) A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr Hematol Oncol 26:746-748, doi: 10.1097/00043426-200411000-00011
18. Shalev H, Kapleushnik Y, Haeskelzon L, Degani O, Kransnov T, Sphilberg O et al (2002) Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. Eur J Haematol 68:170-174, doi: 10.1034/j.1600-0609.2002.01663.x
19. Tamary H, Dgany O, Proust A, Krasnov T, Avidan N, Tschernia G et al (2004) Molecular basis of congenital dyserythropoietic anemia type I in French patients. Blood 104(11):13b
20. Tamary H, Dgany O, Proust A, Krasnov T, Avidan N, Eidelitz-Markus T et al (2005) Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol 130:628-634, doi: 10.1111/j.1365-2141.2005.05642.x
21. Wendt F, Heimpel H (1967) Kongenitale dyserythropoetische Anämie bei einem zweieiigen Zwillingspaar. Med Klin 62:172-177
22. Wickramasinghe SN, Parry TE, Hughes M (1978) Electron microscope autoradiographic studies of the erythroblasts of a case of congenital dyserythropoietic anaemia, type II. Scand J Haematol 20:429-439
23. Wickramasinghe SN, Pippard MJ (1986) Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: Evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells. J Clin Pathol 39:881-890, doi: 10.1136/ jcp.39.8.881