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

Prenatal Diagnosis

Volumn 24, Issue 12, 2004, Pages 992-996

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

^a UNIVERSITY OF CALCUTTA   (India)

^b Department of Orthopedics   (India)

^c MEDICAL COLLEGE AND HOSPITAL   (India)

^d Fetal Care Center   (India)

^e Dept Biophys Molec Biol/Genet   (India)

Author keywords

thalassemia; Eastern India; Haplotype; Mutation; Prenatal diagnosis

Indexed keywords

BETA GLOBIN; DNA;

ARTICLE; BETA THALASSEMIA; CHORION VILLUS SAMPLING; CONTROLLED STUDY; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INDIA; MAJOR CLINICAL STUDY; PARENT COUNSELING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

BETA-THALASSEMIA; CHORIONIC VILLI SAMPLING; DNA; FALSE NEGATIVE REACTIONS; FALSE POSITIVE REACTIONS; FEMALE; GENETIC COUNSELING; GESTATIONAL AGE; GLOBINS; HAPLOTYPES; HUMANS; INDIA; MALE; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 10844263355     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1049     Document Type: Article

References (19)

1. Adhikary D, Lahiri P, Chandra S, Bhattacharya DK. 1987. A method for estimating A2 and E for mass detection of carriers of thalassemia. Curr Sci 56: 1281-1282.
2. Bandyopadhyay A, Bandyopadhyay S, Dasgupta UB, Chandra S, Das MK. 2001a. Detection of rare splice acceptor site mutation (IVS-1,nt 130 G→C) of the β-globin gene in 3 patients of Eastern India. Am J Hematol 67(2): 149.
3. Bandyopadhyay A, Bandyopadhyay S, Dutta Chowdhury M, Dasgupta UB. 1999. Major beta globin gene mutations in Eastern India and their associated haplotypes. Hum Hered 49: 232-235.
4. Bandyopadhyay S, Roychowdhury K, Chandra S, Das MK, Dasgupta UB. 2001b. Variable severity of β-thalassemia patients of Eastern India: effect of α-thalassemia and Xmn1 polymorphism. Clin Exp Med 1: 155-159.
5. Cao A, Rosatelli C, Galanello R, Ristaldi MS. 1989. Prenatal diagnosis in inherited hemoglobinopathies. Ind J Pediatr 65(6): 707-717.
6. Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. 2002. Prenatal exclusion of beta thalassemia major by examination of maternal plasma. Lancet 360(9338): 998-1000.
7. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. 1994. Rapid detection of deletions causing δβ-thalassemia and hereditary persistence of fetal hemoglobin. Blood 83(3): 1673-1682.
8. Das MK, Dey B, Roy M, Mukherjee BN. 1991. High prevalence of hemoglobin E in three population of Malda district, West Bengal, India. Hum Hered 41: 84-88.
9. De M, Chakraborty G, Das SK, Bhattacharya DK, Talukder G. 1997. Molecular studies of haemoglobin-E in tribal populations of Tripura. Lancet 349(9061): 1297-1299.
10. Deka R, Reddy AP, Mukherjee BN, et al. 1988. Hemoglobin E distribution in ten endogenous population groups of Assam, India. Hum Hered 38: 261-266.
11. Jackson DP, Hayden JD, Quirke P. 1991. Extraction of nucleic acid from fresh and archival material. In PCR. A Practical Approach, McPherson MJ, Quirke P, Taylor GR (eds). Oxford University Press: New York; 30-32.
12. Kukreti R, Dash D, Vineetha KE, et al. 2002. Spectrum of β-thalassemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an Eastern Indian population. Am J Hematol 70(4): 269-277.
13. Mavrou A, Kolialexi A, Antsaklis A, Korantzis A, Metaxotou C. 2003. Identification of fetal nucleated red blood cells in the maternal circulation during pregnancy using anti-hemoglobin-epsilon antibody. Fetal Diagn Ther 18(5): 309-313.
14. Modell B, Petrou M. 1983. The problem of hemoglobinopathies in India. Ind J Haematol 1: 5-16.
15. Semenza GL, Delgrosso K, Poncz M, Malladi P, Schwartz E, Surrey S. 1984. The silent carrier allele: β-thalassemia without a mutation in the β-globin gene or its immediate flanking regions. Cell 39: 123-128.
16. Varawalla NY, Old JM, Sarkar R, Venkatesaon R, Weatherall DJ. 1991. The spectrum of β-thalassemia mutations on the Indian subcontinent: the basis of prenatal diagnosis. Br J Haematol 78: 242-247.
17. Vaz FEE, Thakur Mahadik CB, Banerjee MK, Gangal SG. 2000. Distribution of β-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin 24(3): 181-194.
18. Verma IC, Saxena R, Thomas E, Jain PK. 1997. Regional distribution of beta-thalassemia mutations in India. Hum Genet 100(1): 109-113.
19. Xie J, Long G. 2000. Separation and enrichment of fetal nucleated red blood cells from maternal blood for non-invasive prenatal gene diagnosis. Zhonghua Xue Ye Xue Za ZHi 21(10): 512-516.