Profile of β‐thalassemia in eastern India and its prenatal diagnosis
- 15 December 2004
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 24 (12), 992-996
- https://doi.org/10.1002/pd.1049
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.Keywords
This publication has 16 references indexed in Scilit:
- Identification of Fetal Nucleated Red Blood Cells in the Maternal Circulation during Pregnancy Using Anti-Hemoglobin-ε AntibodyFetal Diagnosis and Therapy, 2003
- Spectrum of β‐thalassemia mutations and their association with allelic sequence polymorphisms at the β‐globin gene cluster in an eastern Indian populationAmerican Journal of Hematology, 2002
- Detection of a rare splice acceptor site mutation (IVS I nt 130 G?C) of the ? globin gene in 3 patients of Eastern IndiaAmerican Journal of Hematology, 2001
- Distribution of β-Thalassemia Mutations in the Indian Population Referred to a Diagnostic CenterHemoglobin, 2000
- Regional distribution of β-thalassemia mutations in IndiaHuman Genetics, 1997
- The spectrum of β‐thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosisBritish Journal of Haematology, 1991
- High Prevalence of Haemoglobin E in Three Populations of the Malda District, West Bengal, IndiaHuman Heredity, 1991
- Hemoglobin E Distribution in Ten Endogamous Population Groups of Assam, IndiaHuman Heredity, 1988
- The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regionsCell, 1984