Prenatal diagnosis of β-thalassaemia and other haemoglobinopathies in India

Prenatal Diagnosis

Volumn 20, Issue 3, 2000, Pages 194-201

  Thakur, Chitra ^a   Vaz, Flavian ^a   Banerjee, Monisha ^a   Kapadia, Chhaya ^a   Natrajan, P G ^a   Yagnik, Harsha ^a   Gangal, Sudha ^a  

^a B J WADIA HOSPITAL FOR CHILDREN   (India)

Author keywords

Indian communities; Mutations; Prenatal diagnosis; VNTR

Indexed keywords

DNA; GLOBIN; HEMOGLOBIN; LEUCINE; TRITIUM;

AMNIOCENTESIS; ANALYZER; ARTICLE; BETA THALASSEMIA; CHORION VILLUS SAMPLING; DNA DETERMINATION; FEMALE; FETUS; FETUS BLOOD; GENETIC COUNSELING; HEMOGLOBINOPATHY; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; HUMAN CELL; INDIA; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TWIN PREGNANCY; VARIABLE NUMBER OF TANDEM REPEAT;

AMNIOCENTESIS; BETA-THALASSEMIA; CHORIONIC VILLI SAMPLING; DISEASES IN TWINS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GLOBINS; HEMOGLOBINOPATHIES; HUMANS; INDIA; MINISATELLITE REPEATS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0034030336     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200003)20:3<194::AID-PD778>3.0.CO;2-3     Document Type: Article

References (40)

1. Alter BP. 1984. Advances in the prenatal diagnosis of hematological diseases. Blood 64: 329-340.
2. Alter BP. 1990. Antenatal diagnosis - Summary and results. Ann N Y Acad Sci 612: 237-250.
3. Baysal E. 1998. The β-and δ-thalassemia repository. Hemoglobin 22: 169-195.
4. Budowle B, Chakraborty R, Glusti AM, Eisenberg AJ, Allens RC. 1991. Analysis of VNTR Locus D1S80 by the PCR followed by High-resolution PAGE. Am J Hum Genet 48: 137-144.
5. Clegg JB. Naughton MA, Weatherall DJ. 1968. Separation of α and β chains of human haemoglobin. Nature 219: 69.
6. Colah RB, Dastur A, Aras A, Pawar A, Mudera V, Gorakshakar A. 1991. Prenatal diagnosis of thalassemia in India-The first experience. J Obstel Gvnecol India 41: 733-738.
7. Colah RB, Gorakshakar AC, Lu CY, Nadkarni AH, Desai SN, Pawar AR, Lulla CP, Krishnamoorthy R, Mohanty D. 1997. Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of common Indian thalassaemia syndromes. Indian J Hematol Blood Trans 15: 10-13.
8. De M, Das SK, Bhattacharya DK, Talukdar G. 1997. The occurrence of β-thalassaemia mutation and its interaction with hemoglobin E in eastern India. Int J Hematol 66: 31-34.
9. Decorte R, Cuppens H, Marynen P, Cassiman JJ. 1990. Rapid detection of hypervariable regions by the polymerase chain reaction technique. DNA Cell Biol 9: 461-469.
10. Deka R, Chakraborty R, DeCroo S, Rothhammer F, Baraton SA, Ferall RE. 1992. Characterisation of polymorphism at a VNTR locus to the apolipoprotein B gene in five human populations. Am J Hum Genet 51: 1325-1333.
11. Embury SH. 1995. Advances in prenatal and molecular diagnosis of the hemoglobinopathies and thalassemia. Hemoglobin 19: 237-261.
12. Fuchareon S, Winichagoon P, Wisedpanichkij R, Sae-Ngow B, Sriphanich R, Oncoung W, Muangsapaya W, Chowthaworn J, Kanokpongsakdi S, Bunyaratvej A, Piankijagum AM, Dewaele C. 1998. Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin Chem 44: 740-748.
13. Gangal SG. 1996. Thalassaemia control programme at B. J. Wadia Hospital for Children and Institute for Child Health Research society, Mumbai. India. TIF News 19: 6-7.
14. Gorakshakar AC, Lulla CP, Nadkarni AH, Pawar AR, Desai SN, Lu CY, Desai SN, Colah RB, Mohanty D. 1997. Prenatal diagnosis of β-thalassemia among Indians using denaturing gradient gel electrophoresis. Hemoglobin 21: 421-435.
15. Madan N. Sharma S, Rusia U, Sen S, Sood SK. 1998. β-thalassaemia mutations in northern India (Delhi). Indian J Med Res 107: 134-141.
16. Mahadik C, Kapadia C, Dawda M, Rao V, Wadia M, Shewale L, Shaikh S, Yagnik H, Natrajan P, Merchant SM, Wadhwa M. 1993. Community control of thalassemia major. Proceedings of XVII Annual Conference of the Bombay Hematology Group, Mumbai, 1-3 (Abstract).
17. Malavacca R, Tedeschi S, Mosca A, Calmi S, Leonardis PD, Todaro C, Zuliani G, Buscaglia M, Cantu-Raynaldi A. 1992. Non-radioactive quantification of low concentrations of hemoglobin A by HPLC for midtrimester prenatal diagnosis of β-thalassemia. Clin Chem 38: 1906-1908.
18. Marwaha RK, Lal A. 1994. Present status of haemoglobinopathies in India. Indian Pediatr 31: 267-271.
19. Modell B. Petrou M. 1983. The problem of haemoglobinopathies in India. Indian J Hematol Blood Trans 1: 5-16.
20. Natrajan PG. 1996. Thalassaemia - prevention through prenatal diagnosis. In An Introduction to Genetics and Fetal Medicine, Rao K (ed). Jaypee Brothers Medical Publishers: New Delhi; 144-149.
21. Nicolaides KH, Rodeck CH, Mibashan RS. 1985. Obstetric management and diagnosis of haematological diseases in the fetus. Clinics Hematol 14: 775-805.
22. Old JM. 1996. Hemoglobinopathies. Prenat Diagn 16: 1181-1186.
23. Old JM, Higgs DR. 1982. Gene analysis. In Methods in Hematology, Vol. 6, The Thalassemias, Weatherall DJ (ed). Churchill Livingstone: Edinburgh; 74-102.
24. Old J, Fitches A. 1993. Amplification of VNTR loci in fetal DNA samples for the detection of maternal DNA contamination and non paternity. Proceedings of the Fifth International Conference on Thalassaemia and Other Haemoglobinopathies, Cyprus, 284 (Abstract).
25. Old JM, Petrou M, Modell B. Weatherall DJ. 1984. Feasibility of antenatal diagnosis of β-thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations. Br J Hematol 57: 255-263.
26. Old JM, Varawalla NY, Weatherall DJ. 1990. Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriotic populations in the UK. Lancet 336: 834-837.
27. Petrou M, Modell B. 1995. Prenatal screening for haemoglobin disorders. Prenat Diagn 15: 1275-1295.
28. Petrou M, Modell B, Darr A. Old JM, Kin E, Weatherall DJ. 1990. Antenatal diagnosis - How to deliver a comprehensive service in the United Kingdom. Ann N Y Acad Sci 612: 251-263.
29. 6PD deficiency in tribes of Maharashtra, India. Gene Geogr 4: 131-134.
30. Rao VB, Natrajan PG, Lulla CP, Bandodkar SB. 1997. Rapid Midtrimester prenatal diagnosis of beta-thalassemia and other haemoglobinopathies using a non-radioactive anion exchange HPLC technique - An Indian experience. Prenat Diagn 17: 725-731.
31. Sangani B, Sukumaran PK, Mahadik C, Yagnik H. Telang S, Vas F, Oberroi RA, Modell B, Merchant. 1990. Thalassaemia in Bombay: the role of medical genetics in developing countries. Bull World Health Organ 68: 75-81.
32. Saxena R, Jain PK, Thomas E, Verma IC. 1998. Prenatal diagnosis of β thalassaemia: experience in a developing country. Prenat Diagn 18: 1-7.
33. Sukumaran PK. 1974. Abnormal haemoglobins of India. In Trends in Haematalogy, Sen NN, Basu AK (eds). JB Chatterjea Memorial Committee: Calcutta; 223-261.
34. Sukumaran PK, Master HR. 1973. The distribution of abnormal haemoglobins in the Indian population. In Proceedings of the First Conference of the Indian Society of Human Genetics, Vol. 1. Human Population Genetics in India. Orient Longman: Bombay; 91-111.
35. o-thalassemia. Br J Hematol 57: 271-278.
36. Trent RJ, Le H, Yu B. 1998. Prenatal diagnosis for thalassaemia in a multicultural society. Prenat Diagn 18: 591-598.
37. Varawalla NY. 1992. Prenatal diagnosis and control strategies of β thalassaemia on the Indian subcontinent. Nat Med J India 5: 157-161.
38. Varawalla NY, Fitches AC, Old JM. 1992. Analysis of β globin gene haplotypes in Asian Indians: origin and spread of β thalassaemia on the Indian subcontinent. Hum Genet 90: 443-449.
39. Venkatesan R, Sarkar R, Old JM. 1992. β-thalassaemia mutations and their linkage to β haplotypes in Tamilnadu in Southern India. Clin Genet 42: 251-256.
40. Yagnik H. 1997. Post counselling follow-up of thalassaemia in high risk communities. Indian Pediatr 34: 1115-1118.