title: Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.
abstract: OBJECTIVE
  A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India.
  
  
  METHODS
  Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7).
  
  
  RESULTS
  Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7.
  
  
  CONCLUSIONS
  Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.
authors.affiliation: Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. varmaneelam@yahoo.com
authors.forename: Neelam
authors.initials: N
authors.lastname: Varma
authors.forename: Subhash
authors.initials: S
authors.lastname: Varma
authors.forename: Ram Kumar
authors.initials: RK
authors.lastname: Marwaha
authors.forename: Pankaj
authors.initials: P
authors.lastname: Malhotra
authors.forename: Deepak
authors.initials: D
authors.lastname: Bansal
authors.forename: Kiran
authors.initials: K
authors.lastname: Malik
authors.forename: Sukhdeep
authors.initials: S
authors.lastname: Kaur
authors.forename: Gurjeevan
authors.initials: G
authors.lastname: Garewal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000741:Anemia, Aplastic / Q000209:etiology / Q000235:genetics; D001855:Bone Marrow Diseases / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000150:complications; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000209:etiology / Q000235:genetics