Profile of β-thalassemia in eastern India and its prenatal diagnosis

Aditi Bandyopadhyay, Sanmay Bandyopadhyay, Jayasri Basak, Bama Charan Mondal, Anjali Angelika Sarkar, Sunipa Majumdar, Mani Kanchan Das, Sharmila Chandra, Ashis Mukhopadhyay, Mamtaj Sanghamita, Kusagradhi Ghosh, Uma B. Dasgupta

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Objective: To control the birth of thalassemic children in India. Methods: Mutations present in the population of eastern India and in carrier parents seeking prenatal diagnosis were detected by the PCR-based technique of ARMS (amplification refractory mutation system) or gap-PCR. To screen for maternal tissue contamination in CVS, haplotypes associated with the β-globin gene clusters were constructed using six polymorphic restriction sites. Prenatal diagnosis was accomplished by checking presence of parental mutation in the DNA from chorionic villus sampling (CVS) collected at 8 to 10 weeks' gestation by appropriate technique. Results: Six hundred and fifty (650) unrelated β-thalassemia chromosomes were screened for 11 common mutations to characterize the mutation distribution in this population. Starting from early 2000, 63 families from different parts of West Bengal and from surrounding areas have been offered prenatal counseling for β-thalassemia. Conclusion: The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia.

Original languageEnglish (US)
Pages (from-to)992-996
Number of pages5
JournalPrenatal Diagnosis
Issue number12
StatePublished - Dec 15 2004
Externally publishedYes


  • Eastern India
  • Haplotype
  • Mutation
  • Prenatal diagnosis
  • β-thalassemia

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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