Study of Mutations in
Beta- Thalassemia Trait among Blood Donors in Eastern Uttar Pradesh
1394-1396
Correspondence
Dr L P Meena,
Assistant Professor, Department of General Medicine,
Institute of Medical Sciences, Banaras Hindu University,
Varanasi, U.P., India.
Phone: 07376553479
E-mail: drlalitmeena@gmail.com
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 ß – 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 4ºC. Complete Blood Count (CBC), Haemoglobinopathy Screening and Molecular Analysis by ARMS – PCR (Amplification Refractory Mutation System – PCR) were done. Screening for ß 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 ß – 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 ß-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 studydealt with current problem of unknown mutations, in order to avoid complications.