Molecular Bases of ȕ–Thalassaemia in the Thalassaemic Population of Bhopa
Authors/Creators
- 1. Human Genetic Laboratory, Centre for Scientific Research and Development, People's Group, Bhanpur
- 2. Department of Genetics, Barkatullah University
- 3. Department of Pediatrics, Gandhi Medical College, Bhopal
Description
Beta- Thalassaemia is a group of heterogeneous recessive disorders common in many parts of the world and one
of a major haemoglobinopathy of wide occurrence in the Indian sub-continent. It is distributed to different degrees in
different sub-populations. The treatment of this disorder is quite expensive and counseling seems to be the only way for
controlling it. Genetic analysis for Beta - Thalassaemia disorder is carried out by Amplification Refractory Mutation
System (ARMS) technique. Blood samples of 50 cases of thalassaimia were obtained from patient attending Pediatrics
OPD of Gandhi Medical College & Delta Pathology laboratory, Bhopal and were tested. Out of seven common ȕ -
thalassaemia mutation, IVS1 [Intra Venous Sequences] nt 5 [nucleotides] (GJC)], IVS1 nt 1 (GJT), Deletion 619 bp
(basic pair) and Cap+1(AJC) were found in population of Bhopal in 39.52%, 16.27%, 18.59%, 6.97% respectively. Early
detection of thalassaemia is, therefore, important not only from treatment point of view, but also for the prevention by
genetic counseling.
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References
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