Article
Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis.
Clinical biochemistry - 1 Jun 2005
Chakrabarti Partha, Gupta Ramkrishna, Mishra Ashutosh, Rai Madhukar, Singh Vijay Pratap, Dash Debabrata
Abstract excerpt
OBJECTIVES: To study the prevalence of beta-thalassemia mutations in two North Indian states. DESIGN AND METHODS: Mutation(s) were analyzed in 62 patients using 10 sets of allele-specific primers. RESULTS: Four mutations [IVS1 nt5 (G --> C), F.S 8/9 (+G), F.S 41/42 (-TCTT) and del 619 bp] were found to constitute 94.1% of the total alleles studied. Prevalence of IVS1 nt5 (G --> C) was the highest, closely...
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