BACKGROUND: Knowledge on distribution of different mutations of thalassaemia, which are prevalent in a particular area, is a prerequisite for prenatal diagnosis. OBJECTIVES: Studying mutations in β - thalassaemia trait among blood donors in eastern Uttar Pradesh, India. MATERIAL AND METHODS: One thousand non - remunerated voluntary blood donors who were between 18 - 40 years of age, were included in the study. Both replacement and voluntary healthy blood donors were included. 4ml of venous blood was collected and it was stored at 4°C. Complete Blood Count (CBC), Haemoglobinopathy Screening and Molecular Analysis by ARMS - PCR (Amplification Refractory Mutation System - PCR) were done. Screening for β thalassaemia was done in a blood bank by using D - 10, Bio Rad, which was based on High Performance Liquid Chromatography (HPLC). RESULTS: Twenty Eight subjects with β- thalassaemia trait were found among 1000 voluntary blood donors. IVS 1-5 (G-C) mutation was most common type (50%), followed by FS 8/9 (+G) 25% which was the second most common type. In our study, a rare mutation of CD 16 (-C) was also found. Out of 14 subjects who had IVS 1-5 (G-C) mutation (most common), six were from Varanasi (6/261) and five of them were Sindhis. It was seen that FS 41/42 (TCTT) mutation was distributed among all groups of populations which had higher prevalences of β-thalassaemia trait. CONCLUSION: A comprehensive knowledge on beta thalassaemia mutations is necessary for determining a prenatal diagnosis. The occurrence of mutations may vary according to geographic region. Therefore, this study dealt with current problem of unknown mutations, in order to avoid complications.
BACKGROUND: Knowledge on distribution of different mutations of thalassaemia, which are prevalent in a particular area, is a prerequisite for prenatal diagnosis. OBJECTIVES: Studying mutations in β - thalassaemia trait among blood donors in eastern Uttar Pradesh, India. MATERIAL AND METHODS: One thousand non - remunerated voluntary blood donors who were between 18 - 40 years of age, were included in the study. Both replacement and voluntary healthy blood donors were included. 4ml of venous blood was collected and it was stored at 4°C. Complete Blood Count (CBC), Haemoglobinopathy Screening and Molecular Analysis by ARMS - PCR (Amplification Refractory Mutation System - PCR) were done. Screening for β thalassaemia was done in a blood bank by using D - 10, Bio Rad, which was based on High Performance Liquid Chromatography (HPLC). RESULTS: Twenty Eight subjects with β- thalassaemia trait were found among 1000 voluntary blood donors. IVS 1-5 (G-C) mutation was most common type (50%), followed by FS 8/9 (+G) 25% which was the second most common type. In our study, a rare mutation of CD 16 (-C) was also found. Out of 14 subjects who had IVS 1-5 (G-C) mutation (most common), six were from Varanasi (6/261) and five of them were Sindhis. It was seen that FS 41/42 (TCTT) mutation was distributed among all groups of populations which had higher prevalences of β-thalassaemia trait. CONCLUSION: A comprehensive knowledge on beta thalassaemia mutations is necessary for determining a prenatal diagnosis. The occurrence of mutations may vary according to geographic region. Therefore, this study dealt with current problem of unknown mutations, in order to avoid complications.