Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India

Indian Journal of Medical Research

Volumn 124, Issue 1, 2006, Pages 51-56

  Varma, Neelam ^a   Varma, Subhash ^a   Marwaha, Ram Kumar ^a   Malhotra, Pankaj ^a   Bansal, Deepak ^a   Malik, Kiran ^a   Kaur, Sukhdeep ^a   Garewal, Gurjeevan ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Bone marrrow failure syndromes; Constitutional aetiological factors; Down's syndrome; Fanconi anaemia

Indexed keywords

BUTADIENE DIEPOXIDE; CLASTOGEN; MITOMYCIN C;

ADOLESCENT; ADULT; AGED; APLASTIC ANEMIA; ARTICLE; BONE MARROW DEPRESSION; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DOWN SYNDROME; FAMILY ASSESSMENT; FANCONI ANEMIA; GENETIC SCREENING; HUMAN; HUMAN CELL; INDIA; INTERMETHOD COMPARISON; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; PERIPHERAL LYMPHOCYTE; PROGNOSIS; RISK ASSESSMENT; RISK FACTOR; TERTIARY HEALTH CARE; TRISOMY 8;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANEMIA, APLASTIC; BONE MARROW DISEASES; CHILD; CHILD, PRESCHOOL; DOWN SYNDROME; DYSKERATOSIS CONGENITA; FANCONI ANEMIA; HUMANS; INFANT; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES;

EID: 33748103039     PISSN: 09715916     EISSN: 09715916     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski HS, editors. Hematology of infancy and childhood. Philadelphia: WB Saunders; 1998 p. 237-335.
2. Dokal I. Inherited aplastic anaemia. Hematology J 2003; 4 : 3-9.
3. Tischkowitz M, Dokal I. Fanconi anemia and leukemia - clinical and molecular aspects. Br J Haematol 2004; 126 : 176-91.
4. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003; 101 : 1249-56.
5. Hou JW, Wang TR. Differentiation of Fanconi's anemia from aplastic anemia by chromosomal breakage test. Chung Hua Min Kuo Hsiao Ko I Hsuih Hui Tsa Chih 1997; 38: 121-6.
6. Talwar R, Choudhry VP, Kucheria K. Differentiation of Fanconi anemia from idiopathic aplastic anemia by induced chromosomal breakage study using mitomycin-C (MMC). Indian Pediatr 2004; 41 : 473-7.
7. Varma N. Aplastic anemia - Pathobiology: the dilemma of precise diagnosis. Agarwal MB, editor. Hemato - Onco Scan; 2005 p. 21-30.
8. Guinan EC. Clinical aspects of aplastic anemia. Hematol Oncol Clin NA 1997; 11 : 1025-44.
9. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DAG, Gralnick HR et al. Proposals for classification of myelodysplastic syndromes. Br J Haematol 1982; 5 : 189-99.
10. Sandberg AA, Abe S. Cytogenetic techniques in hematology. Clin Haematol 1980; 9 : 19-38.
11. Howell RT, Taylor AMR. Chromosomal instability syndromes, In: Rooney DE, Czepulkowski B, editors. Human cytogenetics. A practical approach. Vol II. Oxford: Oxford University Press; 1992 p. 209-34.
12. Dokal I, Chase A, Morgan NV, Coutherd. S, Hall G, Mathew CG et al. Positive diepoxibutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anemia complementation group C mutations. Br J Haematol 1996; 93 : 813-6.
13. Toraldo R, Canino G, Tolone C, D'avango M, Porfiris B, Hoehn H et al. Variable response to the di epoxibutane test in two dizygotic twins with Fanconi's anemia and flowcytometry for diagnosis confirmation. Pediatr Hematol Oncol 1998; 15 : 45-54.
14. Chakrabarti A, Varma N, Kumar B, Chakrabarti S, Varma S. Dyskeratosis congenita : DNA repair defect? Indian J Hematol Blood Transfusion 1998; 16: 34-7.
15. Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stravrides G, Pai GS et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Gen 1999; 65 : 50-8.
16. Litz CE, Davies S, Brunning RD, Kueck B, Parkin JL, Arthur D, et al. Acute leukemia and the transient myeloproliferative disorder associated with Down syndrome: morphological, immunophenotypic and cytogenetic manifestations. Leukemia 1995; 9 : 1432-9.
17. Pedersen-Bjergaard J, Anderson MK, Chritiansen DH, Nerlov C. Genetic pathways in therapy - related myelodysplasia and acute myeloid leukemia. Blood 2002; 99 : 1909-12.
18. Hasle H, Kerndrup G, Jacobsen BB. Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions. Leukemia 1992; 9 : 1569-72.
19. Novitzky N, Prindull G. For the European Society of Pediatric Hematology and Immunology. Myelodysplastic syndrome (MDS) working party. Myelodysplastic syndromes in children - a critical review of clinical manifestations and management. Am J Hematol 2000; 63 : 212-22.