Abstract
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Article Information:
Chromosomal Breakage Study in Aplastic Anemia Patients in India
D. Jain, V. Raina, A. Fauzdar, M. Mishra, N. Tyagi, A. Mahajan, K. Iravathy Goud, S. Dayakar, P. Mishra, A.A. Malik, A. Kumar and B.K. Malik
Corresponding Author: Iravathy Goud.K
Submitted: 2010 August, 19
Accepted: 2010 September, 17
Published: 2010 November, 10 |
Abstract:
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The disease management of aplastic anemia patients is, to an extent, based on the etiology i.e.,
constitutional or acquired. Chromosomal breakage study using Mitomycin-C is widely used for this differential
diagnosis in India. The present study was undertaken to find out the frequency of constitutional aplastic anemia.
This prospective study was carried out at Immunology and Molecular biology Lab of Apollo hospital during
July, 2007 to June, 2009. Clinico-hematologically classified 300 aplastic anemic patients that have been catered
to the hospital for their differential diagnosis of aplastic anemia and their respective age and sex matched
healthy controls were processed for chromosomal breakage study. Patient’s habitat, clinical symptoms,
differential blood count and history of drug exposure and post viral development of the disease were
documented. The survival rate was documented after 2 years of diagnosis. Relative risk was estimated by odds
ratio (OR) with 95% confidence interval (CI) in matched cases and controls. A significant increase of
chromosomal breakages seen in 9.40% patients. 8 of 83 (9.64%) patients of > 21 yrs of age and 19 of 204
(9.31%) of #21 years of age showed increased breaks. The sex ratio was 3.2:1. Moderate, severe and verysevere
levels of disease were seen in 27.6, 69.8 and 2.6% of the patients respectively. The survival data
documented for 100 patients suggest 60% mortality. 9.40% had evidence of constitutional aplastic anemia in
contrast to previously published data from India where the proportion ranges from 11-42%. The skewed sex
ratio in our study probably reflects the gender bias in our society. No significant difference (p<0.932) was seen
in proportion of inherited disease in both #21 (71.1%) yrs and > 21 yrs age groups (28.9%). Patients with
constitutional disease could not be differentiated on the basis severity. The high mortality rate raise a need to
analyze these patients on a molecular platform to dig out the genetic factors involved, if any.
Key words: Aplastic anemia, chromosomal breakage studies, mitomycin-c, indian scenario, chromosomal anomalies, fanconis anemia,
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Cite this Reference:
D. Jain, V. Raina, A. Fauzdar, M. Mishra, N. Tyagi, A. Mahajan, K. Iravathy Goud, S. Dayakar, P. Mishra, A.A. Malik, A. Kumar and B.K. Malik, . Chromosomal Breakage Study in Aplastic Anemia Patients in India. Asian Journal of Medical Sciences, (5): 227-232.
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ISSN (Online): 2040-8773
ISSN (Print): 2040-8765 |
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