Major beta-globin gene mutations in eastern India and their associated haplotypes

Aditi Bandyopadhyay, Sanmay Bandyopadhyay, Manju Dutta Chowdhury, Uma B. Dasgupta

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


324 alleles of the β-globin gene from unrelated thalassaemia patients native to the eastern region of India (mainly from the state of West Bengal) were analysed for β-globin gene mutations by the amplification refractory mutation system (ARMS). The major mutations that were detected are IVS-1 pos 5 (G-C), codon 26 (G-A) and codon 30 (G-C) with frequencies of 0.45, 0.33 and 0.05, respectively. Haplotype analysis revealed a very strong linkage disequilibrium of IVS-1 pos 5 (G-C) with one particular haplotype. HbE was found to be associated with two major haplotypes. Codon 30 (G-C) was associated with a haplotype that is the same as that found in the African population. Haplotype associated with codon 8/9 (+G) was the same as that found in northwest India. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal diagnosis of β-thalassaemia in this region.

Original languageEnglish (US)
Pages (from-to)232-235
Number of pages4
JournalHuman Heredity
Issue number4
StatePublished - Jul 1999
Externally publishedYes


  • Amplification refractory mutation system
  • Eastern India
  • Haplotype
  • HbE-β-thalassaemia
  • Restriction fragment length polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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