Imran Khalid, Nisar Ahmed, Abid Sohail, Tariq Masood.
Frequency of Common Chromosomal Abnormalities in patients with Idiopathic Acquired Aplastic Anemia.
J Islamabad Med Dent Coll Jan ;7(4):239-45.

Objective: To determine the frequency of common chromosomal aberrations in local population of idiopathic acquired aplastic anemia at the time of diagnosis, using G-banding cytogenetic analysis. Patients and Methods:This cross sectional study was conducted inDepartment of Haematology, Pakistan Institute of Medical Sciences, and Islamabad and Department of Genetics, Children Hospital, Lahore from June 2015 to July 2017. Sample size was calculated using WHO sample size calculator. A total of sixty cases of peripheral blood pancytopenia having clinical suspicion of acquired aplastic anemia and diagnosed on bone marrow examination with aplastic anemia were included in the study. Bone marrow or peripheral blood samples were also processed forcytogeneticsby G-banding and karyotyping according to International System for Human Cytogenetic Nomenclature (ISCN)to determine frequency of chromosomal abnormalities in the patients of acquired aplastic anaemia. Results: Sixty cases diagnosed to have acquired aplastic anaemia using bone marrow examination as gold standard were included in the study based on inclusion criteria. Forty-five out of 60 patients (75%) had successful karyotyping whereas 15 out of 60 patients (25%) had inconclusive cytogenetics due to culture failure, inadequate metaphase cells and contamination. G-banding revealed normal karyotyping in 40 out of 45 patients (88.9%) while 5 out of 45 patients (11.1%) were found to have abnormal karyotyping. Chromosomal abnormalities revealed by abnormal karyotyping included three numerical abnormalities i.e. monosomy 7, trisomy 8, trisomy 14 and two structural abnormalities i.e. deletion of 11q, deletion of 13q. The frequency of chromosomal abnormalities in patients with acquired aplastic anaemia in this study was found to be 11.1%.Conclusion: Cytogenetic analysis may be beneficial in differentiating acquired AA from other haemopoietic disorders of bone marrow failure, which may be missed, based on cell morphology alone. It also guides in deciding appropriate mode of treatment earlier and predicting prognosis of the disease.

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