title: Profile of beta-thalassemia in eastern India and its prenatal diagnosis.
abstract: 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 beta-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 beta-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 beta-thalassemia.
  
  
  CONCLUSIONS
  The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia.
authors.affiliation: Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 A.P.C. Road, Kolkata-700 009, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Bandyopadhyay
authors.forename: Sanmay
authors.initials: S
authors.lastname: Bandyopadhyay
authors.forename: Jayasri
authors.initials: J
authors.lastname: Basak
authors.forename: Bama Charan
authors.initials: BC
authors.lastname: Mondal
authors.forename: Anjali Angelika
authors.initials: AA
authors.lastname: Sarkar
authors.forename: Sunipa
authors.initials: S
authors.lastname: Majumdar
authors.forename: Mani Kanchan
authors.initials: MK
authors.lastname: Das
authors.forename: Sharmila
authors.initials: S
authors.lastname: Chandra
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukhopadhyay
authors.forename: Mamtaj
authors.initials: M
authors.lastname: Sanghamita
authors.forename: Kusagradhi
authors.initials: K
authors.lastname: Ghosh
authors.forename: Uma B
authors.initials: UB
authors.lastname: Dasgupta
mesh_terms: D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D005817:Genetic Counseling; D005865:Gestational Age; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA