Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.
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| ID: sea-19478
ABSTRACT
BACKGROUND AND 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 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. INTERPRETATION ANDCONCLUSION:
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.
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Assunto principal:
Doenças da Medula Óssea
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Síndromes Mielodisplásicas
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Idoso de 80 Anos ou mais
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Idoso
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Humanos
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Criança
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Pré-Escolar
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Adolescente
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Síndrome de Down
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Adulto
Tipo de estudo:
Prognostic_studies
Limite:
Aged80
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article