A hospital based study of Hb variant and beta thalassaemia mutational pattern characterization among the people of Northeast region of India
Keywords:
Haemoglobinopathies, thalassaemia, Hb Variants, HPLC, ARMS-PCR, Beta thalassaemia mutation.Abstract
Background: Haemoglobinopathies and thalassaemia are the most common genetic disorders prevalent worldwide. In North East India, Hb E, β- thalassaemia, Hb S and Compound HbE-β thalassaemia are the most prevalent Hb variants. Aim:Detection of Hb variants are done by High Performance Liquid Chromatography (HPLC) based Haemoglobin testing system. The beta thalassaemia mutation is being analyzed here to get first hand information on the type of beta thalassaemia mutation prevailing among the population of Northeast region of India.
Methods: The Hb variants were identified by HPLC based method and the beta thalassaemia mutations namely IVS 1-5 (G->C), IVS 1-1 (G->A), IVS 1-1 (G-T), Codon 8/9 and Codon 41/42 were characterized by ARMS-PCR.
Results: Among the 460 cases referred for Hb variant diagnosis, 313 (68.04%) were positive for Haemoglobinopathies or thalassaemias and the rest 147 (31.96%) did not have any type of haemoglobinopathies or thalassaemia. Total 149 cases were having either beta thalassaemia major, beta thalassaemia minor or compound heterozygous with beta thalassaemia. The mutational patterns were identified, in 105 samples (70.469%) and in the rest 44 samples (29.53%) the mutational patterns remained uncharacterized. Among the 105 samples, 63.09% were positive for IVS 1-5 (G->C) mutation and 7.38% were positive with Codon 41/42 mutation.
Conclusion: This preliminary information regarding the Hb variants occurrence and mutational pattern is important for establishing prenatal diagnosis programmes. The results showed that, Haemoglobinopathies and thalassaemia are common among the people of North east region of India and need counseling and awareness programme to reduce the risk of occurrence of this genetic disorder.
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Copyright (c) 2016 Monalisha Saikia Borah, Dr. Prasanta Kumar Bhattacharya, Dr. Mauchumi Saikia Pathak, Dr. Dulal Kalita
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