Carrier screening for Beta-thalassaemia: A review of international practice

European Journal of Human Genetics

Volumn 18, Issue 10, 2010, Pages 1077-1083

  Cousens, Nicole E ^a,b   Gaff, Clara L ^a,b   Metcalfe, Sylvia A ^a,b   Delatycki, Martin B ^a,b,c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c AUSTIN HEALTH   (Australia)

Author keywords

carrier screening; screening programs; thalassaemia

Indexed keywords

BETA THALASSEMIA; CLINICAL ASSESSMENT; CLINICAL PRACTICE; FERTILIZATION IN VITRO; GENETIC COUNSELING; GENETIC SCREENING; HEALTH EDUCATION; HUMAN; INCIDENCE; INFORMED CONSENT; MANDATORY TESTING; MEDICAL EXAMINATION; PATIENT ATTITUDE; PRENATAL CARE; PRIORITY JOURNAL; REVIEW; RISK REDUCTION; SELECTIVE ABORTION; WORLD HEALTH ORGANIZATION;

BETA-THALASSEMIA; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INFORMED CONSENT; INTERNATIONALITY; MASS SCREENING; PATIENT EDUCATION AS TOPIC; PRACTICE GUIDELINES AS TOPIC; PREGNANCY; PRENATAL DIAGNOSIS; WORLD HEALTH ORGANIZATION;

EID: 77957133346     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.90     Document Type: Review

References (72)

1. Mennuti MT: Genetic screening in reproductive health care. Clin Obstet Gynecol 2008; 51: 3-23.
2. Genetic Screening: Ethical Issues. London: Nuffield Council on Bioethics, 1993.
3. Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services, World Health Organization, 1998.
4. Raffle AE: Information about screening-is it to achieve high uptake or to ensure informed choice? Health Expect 2001; 4: 92-98.
5. Wilson JMG, Jugner G: Principles and Practice of Screening for Disease. Geneva, World Health Organization, 1968.
6. Alwan A, Modell B, with contributions from, Bittles A, Czeizel A, Hamamy H: Community control of genetic and congenital disorders. WHO, EMRO Technical Publications Series 24: 1997.
7. Marteau TM, Dormandy E, Michie S: A measure of informed choice. Health Expect 2001; 4: 99-108.
8. Trent RJA: Diagnosis of the Haemoglobinopathies. Clin Biochem Rev 2006; 27: 27-38.
9. Tarazi I, Al Najjar E, Lulu N et al: Obligatory premarital tests for b-thalassaemia in the Gaza Strip: evaluation and recommendations. Int Jnl Lab Hem 2007; 29: 111-118.
10. Xu XM, Zhou YQ, Lou GX et al: The prevalence and spectrum of a and b thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol 2004; 57: 517-522.
11. Bain B: Haemoglobin and the Genetics of Haemoglobin Synthesis: Haemoglobinopathy Diagnosis. London, Blackwell Publishing, 2005, 2nd edn.
12. Marengo-Rowe AJ: The thalassemias and related disorders. Proc (Bayl Univ Med Cent) 2007; 20: 27-31.
13. Yong KN, Wadsworth LD, Langlois S et al: Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent. Clin Genet 1999; 55: 20-25.
14. ACOG: ACOG Practice Bulletin-Clinical Management Guidelines for Obstetricians-Gynecologists-Hemoglobinopathies in Pregnancy. Obstet Gynecol 2007; 109: 229-237.
15. Abolghasemi H, Amid A, Zeinali S et al: Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol 2007; 29: 233-238.
16. Modell B, Khan M, Darlison M et al: A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom. Bull World Health Organ 2001; 79: 1006-1013.
17. Birgens H, Ljung R: The thalassaemia syndromes. Scand J Clin Lab Invest 2007; 67: 11-26.
18. Rund D, Rachmilewitz E: Medical progress: (beta)-Thalassemia. N Engl J Med 2005; 353: 1135-1146.
19. Metcalfe SA, Barlow-Stewart K, Campbell J et al: Genetics and blood: Haemoglobino-pathies and clotting disorders. Australian Family Physician 2007; 36: 812-819.
20. AlHamdan NA, AlMazrou YY, AlSwaidi FM et al: Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genetics in Medicine 2007; 9: 372-377.
21. Ghotbi N, Tsukatani T: Evaluation of the national health policy of thalassaemia screening in the Islamic Republic of Iran. La Revue de Sante de la Mediterranee orientale 2005; 11: 308-318.
22. Karimi M, Jamalian N, Yarmohammadi H et al: Premarital screening for b-thalassaemia in Southern Iran: options for improving the programme. J Med Screen 2007; 14: 62-66.
23. Khorasani G, Kosaryan M, Vahidshahi K et al: Results of the national program for prevention of-Thalassemia major in the Iranian province of Mazandaran. Hemoglobin 2008; 32: 263-271.
24. Samavat A, Modell B: Iranian national thalassaemia screening programme. BMJ 2004; 329: 1134-1137.
25. Angastiniotis MA, Hadjiminas MG: Prevention of thalassaemia in Cyprus. Lancet 1981; 1: 369-371.
26. Cowan RS: Moving up the slippery slope: mandated genetic screening on Cyprus. Am J Med Genet C Semin Med Genet 2009; 151C: 95-103.
27. Mitchell JJ, Capua A, Clow C et al: Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and b-Thalassemia disease carriers in high schools. Am J Med Genet 1996; 59: 793-798.
28. Zlotogora J, Carmi R, Lev B et al: A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet 2009; 17: 591-597.
29. Vallance H, Ford J: Carrier testing for Autosomal-Recessive disorders. Critical Reviews in Clinical Laboratory Sciences 2003; 40: 473-497.
30. Colah R, Surve R, Wadia M et al: Carrier screening for b-Thalassemia during pregnancy in India: a 7-year evaluation. Genet Test 2008; 12: 181-186.
31. Atkin K, Ahmad WIU: Genetic screening and haemoglobinopathies: ethics, politics and practice. Soc Sci Med 1998; 46: 445-448.
32. Locock L, Kai J: Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era. Br J Gen Pract 2008; 58: 161-168.
33. NHS Sickle Cell and Thalassaemia Screening Programme. vol.2010, Accessed at: http://www.sct.screening.nhs.uk.
34. Old JM: Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest 2007; 67: 71-86.
35. Delatycki MB: Population screening for reproductive risk for single gene disorders in Australia: now and the future. Twin Research and Human Genetics 2008; 11: 422-430.
36. Ahmed S, Green J, Hewison J: What are Pakistani women's experiences of antenatal carrier screening for beta-thalassaemia in the UK? Why it is difficult to answer this question? Public Health 2002; 116: 297-299.
37. Ahmed S, Green J, Hewison J: Antenatal thalassaemia carrier testing: women's perceptions of 'information' and 'consent'. J Med Screen 2005; 12: 69-77.
38. Metcalfe SA, Barlow-Stewart K, Delatycki MB et al: Population genetic screening. Australian Family Physician 2007; 36: 794-800.
39. Ormand KE, Iris M, Banuvar S et al: What do patients prefer: informed consent models for genetic carrier testing. Journal of Genetic Counselling 2007; 16: 539-550.
40. The Royal Women's Hospital Maternity Clinical Practice Guidelines. vol.2010, Accessed at: http://www.thewomens.org.au/ MaternityClinicalPracticeGuidelines.
41. Ong LML, de Haes JCJM, Hoos AM et al: Doctor-patient communication: a review of the literature. Soc Sci Med 1995; 40: 903-918.
42. Armeli C, Robbins SJ, Eunpu D: Comparing knowledge of b-thalassemia in samples of Italians, Italian-Americans, and non-Italian-Americans. Journal of Genetic Counseling 2005; 14: 365-376.
43. Firdous N: Prevention of thalassaemia and haemoglobinopathies in remote and isolated communities-The Maldives experience. Ann Hum Biol 2005; 32: 131-137.
44. Chadwick R, ten Have H, Husted J et al: Genetic screening and ethics: European perspectives. J Med Philos 1998; 23: 255-273.
45. Andermann A, Blancquaert I, Beauchamp S et al: Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 2008; 86: 317-319.
46. Scriver CR, Bardanis M, Cartier L et al: b-Thalassemia disease prevention: genetic medicine applied. Am J Med Genet 1984; 36: 1024-1038.
47. Gilani AL, Jadoon AS, Qaiser R et al: Attitudes towards genetic diagnosis in Pakistan: a survey of medical and legal communities and parents of thalassemic children. Community Genetics 2007; 10: 140-146.
48. Mudiyanse RM: Thalassemia treatment and prevention in Uva province, Sri Lanka: a public opinion survey. Hemoglobin 2006; 30: 275-289.
49. Godard B, Ten Kate L, Evers-Kiebooms G et al: Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 2003; 11 (Suppl 2): S49-S87.
50. Cao A, Rosatelli MC, Galanello R: Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience. Ciba Found Symp 1996; 197: 137-151.
51. Keskin A, Turk T, Polat A et al: Premarital screening of beta-thalassaemia trait in the province of Denizli, Turkey. Acta Haematol 2000; 104: 31-33.
52. Greengross P, Hickman M, Gill M et al: Outcomes of universal antenatal screening for haemoglobinopathies. J Med Screen 1999; 6: 3-10.
53. Bain BJ, Chapman C: A survey of current United Kingdom practice for antenatal screening for inherited disorders of globin chain synthesis. UK Forum for Haemoglobin Disorders. J Clin Pathol 1998; 51: 382-389.
54. Liao C, Mo Q, Li J et al: Carrier screening for a-and b-thalassemia in pregnancy: the results of an 11-year prospective program in Guangshou Maternal and Neonatal hospital. Prenat Diagn 2005; 25: 163-171.
55. Lena-Russo D, Badens C, Aubinaud M et al: Outcome of a school screening programme for carriers of haemoglobin disease. J Med Screen 2002; 9: 67-69.
56. Stone C, Lester R: Beyond the crystal ball: the epidemiology of some genetic conditions in victoria. Melbourne, Public Health Group, Department of Human Services 2002.
57. Scriver CR: Community genetics and dignity in diversity in the Quebec network of genetic medicine. Commun Genet 2006; 9: 142-152.
58. Bozkurt G: Results from the north Cyprus thalassaemia prevention program. Hemoglobin 2007; 31: 257-264.
59. Bate CM: Thalassaemia in Cyprus. Proc roy Soc Med 1975; 68: 514-516.
60. Hoedemaekers R, Have HT: Geneticization: the Cyprus paradigm. J Med Philos 1998; 23: 274-287.
61. Chern JPS, Lin K, Su Y et al: Impact of a national b-Thalassemia carrier screening program on the birth rate of Thalassaemia major. Pediatric Blood Cancer 2006; 46: 72-76.
62. Davies SC, Cronin E, Gill M et al: Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research. Health Technol Assess 2000; 4.
63. Green JM, Hewison J, Bekker HL et al: Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess 2004; 8.
64. Metcalfe SA, Aitken M, Gaff CL: The importance of program evaluation: how can it be applied to diverse genetics education settings? Journal of Genetic Counseling 2008; 17: 170-179.
65. Theodoridou S, Alemayehou M, Prappas N et al: Carrier Screening and Prenatal Diagnosis of Hemoglobinopathies. A Study of Indigenous and Immigrant Couples in Northern Greece, Over the Last 5 Years. Hemoglobin 2008; 32: 434-439.
66. Cao A, Furbetta M, Galanello R et al: Prevention of Homozygous b-Thalassemia by Carrier Screening and Prenatal Diagnosis in Sardinia. Am J Med Genet 1981; 33: 592-605.
67. Cao A, Rosatelli MC, Leoni GB et al: Antenatal diagnosis of beta-thalassemia in Sardinia. Ann N Y Acad Sci 1990; 612: 215-225.
68. Chern JPS, Lin K, Lu M et al: b-Thalassaemia Major Births After National Screening Program in Taiwan. Pediatric Blood Cancer 2008; 50: 58-61.
69. Sirdah M, Bilto YY, El Jabour S, Najjar K: Screening secondary school students in the Gaza strip for b-thalassaemia trait. Clin Lab Haem 1998; 20: 279-283.
70. Acemoglu H, Beyhun NE, Vancelik S, Polat H, Guraksin A: Thalassaemia screening in a non-prevalent region of a prevalent country (Turkey): is it necessary? Public Health 2008; 122: 620-624.
71. Canatan D, Kose MR, Ustundag M, Haznedaroglu D, Ozbas S: Hemoglobinopathy Control Program in Turkey. Community Genetics 2006; 9: 124-126.
72. Al Sulaiman A, Suliman A, Al Mishari M, Al Sawadi A, Owaidah TM: Knowledge and attitude toward the hemoglobinopathies premarital screening program in Saudi Arabia: population-based survey. Hemoglobin 2008; 32: 531-538.