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

• Published in: Prenatal diagnosis Vol. 24; no. 12; pp. 992 - 996
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 15-12-2004; Wiley
• Subjects: beta-Thalassemia - diagnosis; beta-Thalassemia - genetics; Biological and medical sciences; Birth control; Chorionic Villi Sampling; DNA - analysis; eastern India; False Negative Reactions; False Positive Reactions; Female; Genetic Counseling; Gestational Age; Globins - genetics; Gynecology. Andrology. Obstetrics; haplotype; Haplotypes; Hormonal contraception; Humans; India; Male; Medical sciences; Mutation; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; β-thalassemia; Asia; India; Prenatal; eastern India; Prenatal diagnosis; β-Thalassemia; Genetics; Mutation; Haplotype
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.1049

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.