Prospective and retrospective primary prevention of Hemoglobinopathies in multiethnic societies

Clinical Biochemistry - Tập 42 - Trang 1757-1766 - 2009
Piero C. Giordano1
1Hemoglobinopathies Laboratory, Human and Clinical Genetics Department, Leiden University Medical Center, The Netherlands

Tài liệu tham khảo

Silvestroni, 1975, Screening for microcytemia in Italy: analysis of data collected in the past 30 years, Am. J. Hum. Genet., 27, 198 Fessas, 1987, Prevention of thalassaemia and haemoglobin S syndromes in Greece, Acta. Haematol., 78, 168, 10.1159/000205869 Angastiniotis, 1988, The Cyprus thalassemia control program, Birth Defects Orig. Artic. Ser., 23, 417 Cürük, 2008, Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey, Hemoglobin, 32, 525, 10.1080/03630260802508269 Lee, 1998, So KT. Prevention of beta-thalassemia major by antenatal screening in Hong Kong, Pediatr. Hematol. Oncol., 15, 249, 10.3109/08880019809028792 Fucharoen, 1992, Thalassemia in South East Asia: problems and strategy for prevention and control, Southeast Asian J. Trop. Med. Public Health, 23, 647 Elgawhary, 2008, Prenatal diagnosis of beta-thalassemia in Egypt: implementing accurate high-tech methods did not reflect much on the outcome, Pediatr. Hematol. Oncol., 25, 541, 10.1080/08880010802313509 Moronkola, 2006, University students in Nigeria: knowledge, attitude toward sickle cell disease, and genetic counseling before marriage, Int. Q. Community Health Educ., 26, 85, 10.2190/JN25-4353-75PK-3733 Hoppe, 2009, Newborn screening for Hemoglobinopathies in the U.S, Journal compilation, Special Issue, International Journal of Laboratory Hematology, 31, 27 Schulpen, 1998, Genetic carrier screening for hemoglobinopathies in the Netherlands is not opportune, Ned. Tijdschr. Geneeskd., 142, 1019 Cao, 1981, Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia, Am. J. Hum. Genet., 33, 592 Angastiniotis, 1981, Prevention of thalassaemia in Cyprus, Lancet., 1, 369, 10.1016/S0140-6736(81)91682-2 Calefato, 2008, Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale, Genet. Med., 10, 99, 10.1097/GIM.0b013e3181614271 La Pean, 2005, Initially misleading communication of carrier results after newborn genetic screening, Pediatrics, 116, 1499, 10.1542/peds.2005-0449 Orsini, 1987, School screening of hemoglobinopathies in the Marseilles area. An analytic study of 35,289 tests, Arch. Fr. Pediatr., 44, 455 Lena-Russo, 2002, Outcome of a school screening programme for carriers of haemoglobin disease, J. Med. Screen., 9, 67, 10.1136/jms.9.2.67 Amato A, Grisanti P, Lerone M, et al. The need for new prevention strategies for severe hemoglobinopathies in endemic and non endemic immigration countries: the Italian Latium example. (Submitted for publication). Bozkurt, 2007, Results from the north Cyprus thalassemia prevention program, Hemoglobin, 31, 257, 10.1080/03630260701297204 Najmabadi, 2006, Fourteen-year experience of prenatal diagnosis of thalassemia in Iran, Community Genet., 9, 93, 10.1159/000091486 Samavat, 2004, Iranian national thalassaemia screening programme, BMJ, 329, 1134, 10.1136/bmj.329.7475.1134 Nikuei, 2008, Prenatal diagnosis for beta-thalassemia major in the Iranian province of Hormozgan, Hemoglobin, 32, 539, 10.1080/03630260802508327 Cao, 2002, Carrier screening and genetic counselling in beta-thalassemia, Int. J. Hematol., 76, 105, 10.1007/BF03165098 Kanavakis, 1997, Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods, Mol. Hum. Reprod., 3, 523, 10.1093/molehr/3.6.523 Thomas, 2005, Antenatal screening for haemoglobinopathies in primary care: a whole system participatory action research project, Br. J. Gen. Pract., 55, 424 Giordano, 2006, Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study, Prenat. Diagn., 26, 719, 10.1002/pd.1490 Basran, 2005, Prenatal diagnosis of hemoglobinopathies in Ontario, Canada, Ann. N. Y. Acad. Sci., 1054, 507, 10.1196/annals.1345.052 Streetly, 2009, Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: screening results for 2005–7, J. Clin. Pathol., 62, 26, 10.1136/jcp.2008.058859 Giordano, 2009, Starting neonatal screening for haemoglobinopathies in The Netherlands, J. Clin. Pathol., 62, 18, 10.1136/jcp.2008.058826 Bardakdjian-Michau, 2009, Neonatal screening for sickle cell disease in France, J. Clin. Pathol., 62, 31, 10.1136/jcp.2008.058867 Mantikou E, Arkesteijn SG, Beckhoven van J, Kerkhoffs J-L, Harteveld CL, Giordano PC. Advances in newborn screening of the hemoglobinopathies: selection of putative beta thalassemia carriers by gestational age related estimation of the HbA fraction. (Submitted for publication). Shine, 1997, Microcytic anemia, Am. Fam. Physician., 55, 2455 [No athors listed], 1987, Intraoperative death during caesarian section in a patient with sickle-cell trait. The Anaesthesia Advisory Committee to the Chief Coroner of Ontario, Can. J. Anaesth., 34, 67, 10.1007/BF03007689 Robitaille, 2006, Newborn screening for sickle cell disease, A 1988-2003 Quebec experience Paediatr. Child Health, 11, 223 Kolnaar, 2003, The practice guideline ‘Anemia’ from the Dutch College of General Practitioners, Ned. Tijdschr. Geneeskd., 147, 2193 Lippincott Williams & Wilkins Professional Guide to Diseases Hardbound, 8th Edition Springhouse editor ISBN: 1-58255-370-X. Modell, 2007, Epidemiology of haemoglobin disorders in Europe: an overview, Scand. J. Clin. Lab. Invest., 67, 39, 10.1080/00365510601046557 Giordano, 2006, Prevention of hereditary haemoglobinopathies in The Netherlands, Ned. Tijdschr. Geneeskd., 150, 2137 Al-Gazali, 2006, Genetic disorders in the Arab world, Br. Med. J., 333, 831, 10.1136/bmj.38982.704931.AE Van Delft P, Lenters E, Bakker-Verweij M, et al. Evaluating five dedicated automatic devices for hemoglobinopathy diagnostics in multi ethnic populations. IJLH (ahead of print April 2009). Giordano, 2006, Dragerschapdiagnostiek en preventie van sikkelcelziekte en thalassemia major; aanbevelingen van de werkgroep Hemoglobinopathieën, Ned. Tijdschr. Klin. Chem. Labgeneesk., 31, 301 Hoppe, 2004, An effective program to resolve ambiguous results from state newborn hemoglobinopathy screening, Blood, 3563a, 104 Wild, 2004, The potential of electrospray ionization mass spectrometry for the diagnosis of hemoglobin variants found in newborn screening, Blood Cells Mol. Diseases, 33, 308, 10.1016/j.bcmd.2004.07.004 Cowan, 2009, Moving up the slippery slope: mandated genetic screening on Cyprus, Am. J. Med. Genet. C. Semin. Med. Genet., 151C, 95, 10.1002/ajmg.c.30202 Chadwick, 1998, Genetic screening and ethics: European perspectives, J. Med. Philos., 23, 255, 10.1076/jmep.23.3.255.2580 Karetti, 2004, Informing carriers of beta-thalassemia: giving the good news, Genet. Test, 8, 109 Tunçbilek, 2007, Application of medical genetics in Turkey, Turk. J. Pediatr., 49, 353 Naamane-Guessous, 1993, Traditional methods still widely used, Plan. Parent. Chall., 1, 14 Giordano, 2005, Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies, Prenat. Diagn., 25, 885, 10.1002/pd.1206 Giordano, 1999, The need for diagnosis and prevention of hemoglobinopathies in Northern Europe: the Dutch situation, Haematologica, 84, 103 Giordano, 1998, Hemoglobinopathies in The Netherlands: the role of the GP in carrier diagnostics and prevention (in Dutch), Huisarts. Wet., 6, 290 Elion-Gerritzen, 2002, Anemia in the midwife practice. Standard issued by the Royal Dutch Organisation of Midwives: a risk of not recognizing iron deficiency and hemoglobinopathy, Ned. Tijdschr. Geneeskd., 146, 457 Giordano, 2000, Prevention of hemoglobinopathies in the Netherlands: an individual approach based on information and prospective diagnostiscs, Hematol. J., 1, P120 Giordano, 2000, Information and carrier diagnostiscs as a basis for hemoglobinopathies prevention in The Netherlands: a task for the first line healthcare, Eur. Jour. Hum. Genet., 8, 54 P128 Giordano PC, Harteveld CL, Bernini LF. Prevention of hemoglobinopathies in the immigrant populations of northern Europe: The Netherlands. The 8th International Conference on Thalassemia and the Hemoglobinopathies 2001; abstract nr P09. Giordano P.C. Toward state of the art neonatal screening for secondary and primary prevention of the Hemoglobinopathies in The Netherlands. Report Zon-MW isbn 90-807039-2-3. Bouva, 2006 Verheul, 2006 Peters, 2009, Opgespoorde Kinderen in het eerste jaar, Ned. Tijdschr. Geneeskd., 153, B359 Vansenne, 2009, Sikkelcelziekte in de hielprikscreening II. Gerapporteerd dragerschap, Ned. Tijdschr. Geneeskd., 153, B366 Lakeman, 2008, Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands, Genet. Med., 10, 820, 10.1097/GIM.0b013e318188d04c Wijk van, 2003, NHG Standaard Anemie, Huisarts. Wet., 46, 3 Rutten, 2006, NHG-Standaard Diabetes mellitus type 2, Huisarts. Wet., 49, 137