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Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India
Reprint requests : Dr Neelam Varma, Additional Professor & Head, Department of Haematology Postgraduate Institute of Medical Education & Research, Chandigarh 160012, India e-mail: varmaneelam@yahoo.com
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Received: ,
Abstract
Background & objectives:
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 per cent (13/54), 16.66 per cent (1/6) and 2.85 per cent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 per cent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7.
Interpretation & conclusion:
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.
