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Profile of β‐thalassemia in eastern India and its prenatal diagnosis
Author(s) -
Bandyopadhyay Aditi,
Bandyopadhyay Sanmay,
Basak Jayasri,
Mondal Bama Charan,
Sarkar Anjali Angelika,
Majumdar Sunipa,
Das Mani Kanchan,
Chandra Sharmila,
Mukhopadhyay Ashis,
Sanghamita Mamtaj,
Ghosh Kusagradhi,
Dasgupta Uma B.
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1049
Subject(s) - prenatal diagnosis , thalassemia , chorionic villus sampling , population , genetic counseling , medicine , haplotype , obstetrics , genetics , mutation , pediatrics , pregnancy , fetus , biology , gene , environmental health , genotype
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 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. Copyright © 2004 John Wiley & Sons, Ltd.