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Chromosomal Breakage Study in Aplastic Anemia Patients in India

Author(s): Iravathy Goud.K | D. Jain; V. Raina; A. Fauzdar; M. Mishra; N. Tyagi; A. Mahajan; S. Dayakar; P. Mishra; A.A. Malik; A. Kumar and B.K. Malik

Journal: Asian Journal of Medical Sciences
ISSN 2040-8765

Volume: 2;
Issue: 5;
Start page: 227;
Date: 2010;
Original page

Keywords: Aplastic anemia | chromosomal breakage studies | mitomycin-c | indian scenario | chromosomal anomalies | fanconis anemia

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 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.
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