1932

Abstract

Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.

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2018-08-31
2024-10-05
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Literature Cited

  1. 1.  Abi Saad M, Haddad AG, Alam ES, Aoun S, Maatouk P et al. 2014. Preventing thalassemia in Lebanon: successes and challenges in a developing country. Hemoglobin 38:308–11
    [Google Scholar]
  2. 2.  Águila JF, Zamora MC, Fernández , Jiménez LP, Vicente OM, Álvarez IV 2008. Comprehensive care for patients with sickle cell disease in Cuba. Haematologica 93:e20
    [Google Scholar]
  3. 3.  Al Arrayed S 2005. Campaign to control genetic blood diseases in Bahrain. Public Health Genom 8:52–55
    [Google Scholar]
  4. 4.  Al Hosani H, Salah M, Osman HM, Farag HM, El-Assiouty L et al. 2014. Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. East. Mediterr. Health J. 20:17–23
    [Google Scholar]
  5. 5.  Al-Allawi NA, Al-Doski AA, Markous RS, Amin KA, Eissa AA et al. 2015. Premarital screening for hemoglobinopathies: experience of a single center in Kurdistan, Iraq. Public Health Genom 18:97–103
    [Google Scholar]
  6. 6.  Al-Arrayed S, Al-Hajeri A 2012. Newborn screening services in Bahrain between 1985 and 2010. Adv. Hematol. 2012:903219
    [Google Scholar]
  7. 7.  Al-Gazali LI, Alwash R, Abdulrazzaq YM 2005. United Arab Emirates: communities and community genetics. Public Health Genom 8:186–96
    [Google Scholar]
  8. 8.  Al-Gazali LI, Hamamy H, Al-Arrayad S 2006. Genetic disorders in the Arab world. BMJ 333:831–34
    [Google Scholar]
  9. 9.  AlHamdan NA, AlMazrou YY, AlSwaidi FM, Choudhry AJ 2007. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet. Med. 9:372–77
    [Google Scholar]
  10. 10.  Ali N, Moiz B, Bin Azhar W, Zaidi N, Memon R 2012. Carrier detection for beta-thalassemia trait in general Pakistani population: a way forward. Hematology 17:237–40
    [Google Scholar]
  11. 11.  Alkhaldi SM, Khatatbeh MM, Berggren VE, Taha HA 2016. Knowledge and attitudes toward mandatory premarital screening among university students in North Jordan. Hemoglobin 40:118–24
    [Google Scholar]
  12. 12.  Alkindi S, Al Zadjali S, Al Madhani A, Daar S, Al Haddabi H et al. 2010. Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates. Hemoglobin 34:135–44
    [Google Scholar]
  13. 13.  Alswaidi FM, O'Brien SJ 2009. Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success. J. Med. Screen. 16:22–28
    [Google Scholar]
  14. 14.  Amato A, Cappabianca MP, Lerone M, Colosimo A, Grisanti P et al. 2014. Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy. J. Community Genet. 5:265–68
    [Google Scholar]
  15. 15.  Angastiniotis MA, Hadjiminas MG 1981. Prevention of thalassaemia in Cyprus. Lancet 317:369–71
    [Google Scholar]
  16. 16.  Angastiniotis MA, Vives Corrons JL, Soteriades ES, Eleftheriou A 2013. The impact of migrations on the health services for rare diseases in Europe: the example of haemoglobin disorders. Sci. World J. 2013:727905
    [Google Scholar]
  17. 17.  Ansari SH, Shamsi TS, Ashraf M, Bohray M, Farzana T et al. 2011. Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications. Int. J. Mol. Epidemiol. Genet. 2:403–8
    [Google Scholar]
  18. 18.  Bain BJ 2005. Haemoglobinopathy Diagnosis Oxford, UK: Blackwell, 2nd ed..
    [Google Scholar]
  19. 19.  Bardakdjian-Michau J, Bahuau M, Hurtrel D, Godart C, Riou J et al. 2009. Neonatal screening for sickle cell disease in France. J. Clin. Pathol. 62:31–33
    [Google Scholar]
  20. 20.  Baxi A, Manila K, Kadhi P, Heena B 2013. Carrier screening for β thalassemia in pregnant Indian women: experience at a single center in Madhya Pradesh. Indian J. Hematol. Blood Transfus. 29:71–74
    [Google Scholar]
  21. 20a.  Benson JM, Therrell BL Jr 2010. History and current status of newborn screening for hemoglobinopathies. Semin. Perinatol. 34:134–44
    [Google Scholar]
  22. 21.  Bhattacharyya KK, Chatterjee T, Mondal UB 2016. A comprehensive screening program for β-thalassemia and other hemoglobinopathies in the Hooghly District of West Bengal, India, dealing with 21 137 cases. Hemoglobin 40:396–99
    [Google Scholar]
  23. 22.  Bhukhanvala DS, Sorathiya SM, Sawant P, Colah R, Ghosh K, Gupte SC 2013. Antenatal screening for identification of couples for prenatal diagnosis of severe hemoglobinopathies in Surat, South Gujarat. J. Obstet. Gynecol. India 63:123–27
    [Google Scholar]
  24. 23.  Borrajo GJ 2007. Newborn screening in Latin America at the beginning of the 21st century. J. Inherit. Metab. Dis. 30:466–81
    [Google Scholar]
  25. 24.  Bouva MJ, Mohrmann K, Brinkman HB, Kemper-Proper EA, Elvers B et al. 2010. Implementing neonatal screening for haemoglobinopathies in the Netherlands. J. Med. Screen. 17:58–65
    [Google Scholar]
  26. 25.  Canatan D 2011. Haemoglobinopathy prevention program in Turkey. Thalass. Rep. 1:s2e4
    [Google Scholar]
  27. 26.  Cao A, Furbetta M, Galanello R, Melis MA, Angius A et al. 1981. Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia. Am. J. Hum. Genet. 33:592–605
    [Google Scholar]
  28. 27.  Cao A, Galanello R 2010. Beta-thalassemia. Genet. Med. 12:61–76
    [Google Scholar]
  29. 28.  Cao A, Kan YW 2013. The prevention of thalassemia. Cold Spring Harb. Perspect. Med. 3:a011775
    [Google Scholar]
  30. 29.  Cao A, Rosatelli C, Pirastu M, Galanello R 1991. Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention. J. Pediatr. Hematol. Oncol. 13:179–88
    [Google Scholar]
  31. 30.  Cao A, Rosatelli MC, Galanello R 1996. Control of β‐thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience. Ciba Found. Symp. 197:137–55
    [Google Scholar]
  32. 31.  Carlice-dos-Reis T, Viana J, Moreira FC, de Lemos Cardoso G, Guerreiro J et al. 2017. Investigation of mutations in the HBB gene using the 1,000 genomes database. PLOS ONE 12:e0174637
    [Google Scholar]
  33. 32.  Cela E, Bellón JM, la Cruz M, Beléndez C, Berrueco R et al. 2017. National registry of hemoglobinopathies in Spain (REPHem). Pediatr. Blood Cancer 64:e26322
    [Google Scholar]
  34. 33. Cent. Dis. Control Prev. (CDC), Assoc. Public Health Lab. 2015. Hemoglobinopathies: current practices for screening, confirmation and follow-up Rep., CDC, Atlanta, GA, and Assoc. Public Health Lab Silver Spring, MD: https://www.cdc.gov/ncbddd/sicklecell/documents/nbs_hemoglobinopathy-testing_122015.pdf
    [Google Scholar]
  35. 34.  Charlton M 2017. NHS Sickle Cell and Thalassaemia Screening Programme: data report 2015/16: trends and performance analysis Rep Public Health Engl London:
    [Google Scholar]
  36. 35.  Chatterjee T, Chakravarty A, Chakravarty S 2015. Population screening and prevention strategies for thalassemias and other hemoglobinopathies of Eastern India: experience of 18,166 cases. Hemoglobin 39:384–88
    [Google Scholar]
  37. 36.  Chern JP, Lin KH, Lu MY, Lin DT, Jou ST et al. 2008. β‐Thalassemia major births after national screening program in Taiwan. Pediatr. Blood Cancer 50:58–61
    [Google Scholar]
  38. 37.  Clarke GM, Higgins TN 2000. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clin. Chem. 46:1284–90
    [Google Scholar]
  39. 38.  Colah RB, Gorakshakar A 2014. Control of thalassemia in India. Thalass. Rep. 4:84–89
    [Google Scholar]
  40. 39.  Colah RB, Italia K, Gorakshakar A 2017. Burden of thalassemia in India: the road map for control. Pediatr. Hematol. Oncol. J. 2:79–84
    [Google Scholar]
  41. 40.  Colah RB, Surve R, Wadia M, Solanki P, Mayekar P et al. 2008. Carrier screening for β-thalassemia during pregnancy in India: a 7-year evaluation. Genet. Test. 12:181–85
    [Google Scholar]
  42. 41.  Conte R, Ruggieri L, Gambino A, Bartoloni F, Baiardi P et al. 2016. The Italian multiregional thalassemia registry: centers characteristics, services, and patients’ population. Hematology 21:415–24
    [Google Scholar]
  43. 42.  Coppinger C 2017. Updated standards for sickle cell and thalassaemia screening. PHE Screening Mar. 1. https://phescreening.blog.gov.uk/2017/03/01/updated-standards-for-sickle-cell-and-thalassaemia-screening
    [Google Scholar]
  44. 43.  Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB 2010. Carrier screening for beta-thalassaemia: a review of international practice. Eur. J. Hum. Genet. 18:1077–83
    [Google Scholar]
  45. 44.  Cowan RS 2009. Moving up the slippery slope: mandated genetic screening on Cyprus. Am. J. Med. Genet. C 151:95–103
    [Google Scholar]
  46. 45.  Crighton G, Wood E, Scarborough R, Ho PJ, Bowden D 2016. Haemoglobin disorders in Australia: Where are we now and where will we be in the future?. Intern. Med. J. 46:770–79
    [Google Scholar]
  47. 46.  Das R 2012. Micro mapping the frequencies of beta thalassemia and sickle cell anemia in India: a way forward to plan control strategies. Indian J. Hum. Genet. 18:148–49
    [Google Scholar]
  48. 47.  de Castro Lobo CL, Ballas SK, Domingos AC, Moura PG, do Nascimento EM et al. 2014. Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil. Pediatr. Blood Cancer 61:34–39
    [Google Scholar]
  49. 48.  de Silva S, Fisher CA, Premawardhena A, Lamabadusuriya SP, Peto TE et al. 2000. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Lancet 355:786–91
    [Google Scholar]
  50. 49. Dep. Health Repub. Philipp. 2017. Newborn screening programme http://www.doh.gov.ph/newborn-screening
    [Google Scholar]
  51. 50.  Detemmerman L, Olivier S, Bours V, Boemer F 2017. Innovative PCR without DNA extraction for African sickle cell disease diagnosis. Hematology 23:181–86
    [Google Scholar]
  52. 51.  Diallo DA, Guindo A 2014. Sickle cell disease in sub-Saharan Africa: stakes and strategies for control of the disease. Curr. Opin. Hematol. 21:210–14
    [Google Scholar]
  53. 52.  Dormandy E, Bryan S, Gulliford MC, Roberts TE, Ades AE et al. 2010. Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial. Health Technol. Assess. 14:1–160
    [Google Scholar]
  54. 53.  Echeverry-Coral SJ, Colmenares-Mejía CC, Yepes-Molina ZX, Martínez-Nieto O, Isaza-Ruget MA 2016. Hemoglobinopathy detection through an institutional neonatal screening program in Colombia. J. Bras. Patol. Med. Lab. 52:299–306
    [Google Scholar]
  55. 54.  El-Beshlawy A, El‐Shekha A, Momtaz M, Said F, Hamdy M et al. 2012. Prenatal diagnosis for thalassaemia in Egypt: What changed parents’ attitude?. Prenat. Diagn. 32:777–82
    [Google Scholar]
  56. 55.  El-Beshlawy A, Youssry I 2009. Prevention of hemoglobinopathies in Egypt. Hemoglobin 33:S14–20
    [Google Scholar]
  57. 56. EuroGentest. 2017. Recommendations for genetic counselling related to genetic testing Recomm. Doc., EuroGentest, Cent. Human Genet., Univ. Leuven Belgium: http://www.eurogentest.org/fileadmin/templates/eugt/pdf/guidelines_of_GC_final.pdf
    [Google Scholar]
  58. 57.  Fattoum S 2009. Evolution of hemoglobinopathy prevention in Africa: results, problems and prospect. Mediterr J. Hematol. Infect. Dis. 1:e2009005
    [Google Scholar]
  59. 58.  Felice AE, Galdes R, Cassar W, Pizzuto M, Borg J et al. 2003. An update of beta thalassaemia carrier screening in Malta. Malta Med. J. 18:Suppl.47 http://www.um.edu.mt/umms/mmj/showpdf.php?article=266
    [Google Scholar]
  60. 59.  Firdous N, Gibbons S, Modell B 2011. Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives. J. Community Genet. 2:173–89
    [Google Scholar]
  61. 60.  Fucharoen S, Weatherall DJ 2016. Progress toward the control and management of the thalassemias. Hematol. Oncol. Clin. N. Am. 30:359–71
    [Google Scholar]
  62. 61.  Fucharoen S, Winichagoon P 2007. Prevention and control of thalassemia in Asia. Asian Biomed 1:1–6
    [Google Scholar]
  63. 62.  Fucharoen S, Winichagoon P 2011. Haemoglobinopathies in Southeast Asia. Indian J. Med. Res. 134:498–506
    [Google Scholar]
  64. 63.  Galanello R 2013. Screening and diagnosis for haemoglobin disorders. Prevention of Thalassaemias and Other Haemoglobin Disorders, Vol. 1: Principles J Old, chap. 4 Nicosia, Cyprus: Thalass. Int. Fed, 2nd ed. https://www.ncbi.nlm.nih.gov/books/NBK190467
    [Google Scholar]
  65. 64.  Galanello R, Cao A 2011. Alpha-thalassemia. Genet. Med. 13:83–88
    [Google Scholar]
  66. 65.  Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K et al. 2013. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 42:D1063–69
    [Google Scholar]
  67. 66.  Giordano P 2013. Newborn screening for haemoglobinopathies. Prevention of Thalassaemias and Other Haemoglobin Disorders, Vol. 1: Principles J Old, chap. 10 Nicosia, Cyprus: Thalass. Int. Fed, 2nd ed. https://www.ncbi.nlm.nih.gov/books/NBK190476
    [Google Scholar]
  68. 67.  Gramer G, Okun JG, Hoffmann GF 2016. 23rd annual meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS). Int. J. Neonatal Screen. 2:7
    [Google Scholar]
  69. 68.  Green NS, Mathur S, Kiguli S, Makani J, Fashakin V et al. 2016. Family, community, and health system considerations for reducing the burden of pediatric sickle cell disease in Uganda through newborn screening. Glob. Pediatr. Health 3:2333794X16637767
    [Google Scholar]
  70. 69.  Gulbis B, Cotton F, Ferster A, Ketelslegers O, Dresse MF et al. 2009. Neonatal haemoglobinopathy screening in Belgium. J. Clin. Pathol. 62:49–52
    [Google Scholar]
  71. 70.  Hamamy HA, Al-Allawi NAS 2013. Epidemiological profile of common haemoglobinopathies in Arab countries. J. Community Genet. 4:147–67
    [Google Scholar]
  72. 71.  Hamamy HA, Al-Hait S 2007. Premarital screening program for beta-thalassemia in Jordan. Ambassad. Online Mag. 10:1 http://ambassadors.net/archives/issue21/selectedstudy.htm
    [Google Scholar]
  73. 72.  He J, Zeng H, Zhu L, Li H, Shi L, Hu L 2017. Prevalence and spectrum of thalassaemia in Changsha, Hunan province, China: discussion of an innovative screening strategy. J. Genet. 96:327–32
    [Google Scholar]
  74. 73. Health Counc. Neth. 2007. Preconception care: a good beginning Rep. 2007/19E Health Counc. Neth The Hague:
    [Google Scholar]
  75. 74. Health Counc. Neth. 2015. Neonatal screening: new recommendations Rep. 2015/08E Health Counc. Neth The Hague:
    [Google Scholar]
  76. 75.  Hemminki K, Li X, Försti A, Sundquist J, Sundquist K 2015. Thalassemia and sickle cell anemia in Swedish immigrants: Genetic diseases have become global. SAGE Open. Med. 3:2050312115613097
    [Google Scholar]
  77. 76.  Higgs DR, Weatherall DJ 2009. The alpha thalassaemias. Cell. Mol. Life Sci. 66:1154–62
    [Google Scholar]
  78. 77. Hong Kong Coll. Obstet. Gynaecol. (HKCOG). 2003. Guidelines of antenatal thalassaemia screening HKCOG Guidel. No. 8 HKCOG Hong Kong: http://www.hkcog.org.hk/hkcog/Download/Guidelines_of_Antenatal_Thalassaemia_Screening_2003.pdf
    [Google Scholar]
  79. 78.  Hoppe CC 2009. Newborn screening for non-sickling hemoglobinopathies. Hematol. Am. Soc. Hematol. Educ. Program. 2009:19–25
    [Google Scholar]
  80. 79.  Hoppe CC 2011. Newborn screening for hemoglobin disorders. Hemoglobin 35:556–64
    [Google Scholar]
  81. 80.  Hossain MS, Raheem E, Sultana TA, Ferdous S, Nahar N et al. 2017. Thalassemias in South Asia: clinical lessons learnt from Bangladesh. Orphanet J. Rare Dis. 12:93
    [Google Scholar]
  82. 81.  Howard HC, Knoppers BM, Cornel MC, Clayton EW, Sénécal K, Borry P 2015. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur. J. Hum. Genet. 23:1593–600
    [Google Scholar]
  83. 82.  Huttle A, Maestre GE, Lantigua R, Green NS 2015. Sickle cell in sickle cell disease in Latin America and the United States. Pediatr. Blood Cancer 62:1131–36
    [Google Scholar]
  84. 83.  Jain DL, Sarathi V, Upadhye D, Gulhane R, Nadkarni AH et al. 2012. Newborn screening shows a high incidence of sickle cell anemia in Central India. Hemoglobin 36:316–22
    [Google Scholar]
  85. 84.  Joutovsky A, Hadzi-Nesic J, Nardi MA 2004. HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory. Clin. Chem. 50:1736–47
    [Google Scholar]
  86. 85.  Kafando E, Sawadogo M, Cotton F, Vertongen F, Gulbis B 2005. Neonatal screening for sickle cell disorders in Ouagadougou, Burkina Faso: a pilot study. J. Med. Screen. 12:112–14
    [Google Scholar]
  87. 86.  Kassebaum NJ, Jasrasaria R, Naghavi M, Wulf SK, Johns N et al. 2014. A systematic analysis of global anemia burden from 1990 to 2010. Blood 123:615–24
    [Google Scholar]
  88. 87.  Langlois S, Ford JC, Chitayat D, Désilets VA, Farrell SA et al. 2008. Carrier screening for thalassemia and hemoglobinopathies in Canada. J. Obstet. Gynaecol. Can. 30:950–59
    [Google Scholar]
  89. 88.  PQ, Ferster A, Dedeken L, Vermylen C, Vanderfaeillie A et al. 2017. Neonatal screening improves sickle cell disease clinical outcome in Belgium. J. Med. Screen. 2017:0969141317701166
    [Google Scholar]
  90. 89.  Leão LL, Aguiar MJ 2008. Newborn screening: what pediatricians should know. J. Pediatr. (Rio J.) 84:S80–90
    [Google Scholar]
  91. 90.  Lena-Russo D, Badens C, Aubinaud M, Merono F, Paolasso C et al. 2002. Outcome of a school screening programme for carriers of haemoglobin disease. J. Med. Screen. 9:67–69
    [Google Scholar]
  92. 91.  Liao C, Mo QH, Li J, Li LY, Huang YN et al. 2005. Carrier screening for α- and β‐thalassemia in pregnancy: the results of an 11‐year prospective program in Guangzhou Maternal and Neonatal Hospital. Prenat. Diagn. 25:163–71
    [Google Scholar]
  93. 92.  Lo YMD 2010. Noninvasive prenatal diagnosis in 2020. Prenat. Diagn. 30:702–3
    [Google Scholar]
  94. 93.  Loukopoulos D 2011. Haemoglobinopathies in Greece: prevention programme over the past 35 years. Indian J. Med. Res. 134:572–76
    [Google Scholar]
  95. 94.  Martinez PA, Angastiniotis M, Eleftheriou A, Gulbis B, Pereira MD et al. 2014. Haemoglobinopathies in Europe: health and migration policy perspectives. Orphanet J. Rare Dis. 9:97
    [Google Scholar]
  96. 95.  Martins MC, Olim G, Melo J, Magalhaes HA, Rodrigues MO 1993. Hereditary anaemias in Portugal: epidemiology, public health significance, and control. J. Med. Genet. 30:235–39
    [Google Scholar]
  97. 96.  McGann PT, Ferris MG, Ramamurthy U, Santos B, Oliveira V et al. 2013. A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola. Am. J. Hematol. 88:984–89
    [Google Scholar]
  98. 97.  McGann PT, Hernandez AG, Ware RE 2017. Sickle cell anemia in sub-Saharan Africa: advancing the clinical paradigm through partnerships and research. Blood 129:155–61
    [Google Scholar]
  99. 98. Minist. Health Malays. 2017. Management of thalassaemia Rep., Health Technol. Assess. Unit, Med. Dev. Div., Minist. Health Malays. http://www.moh.gov.my/update2017/727.pdf
    [Google Scholar]
  100. 99. Minist. Health Malays. 2016. National thalassaemia screening program Rep., Div. Family Health Dev., Minist. Health Malays. https://www.slideshare.net/ravindersan/national-thalassaemia-screening-program-malaysia
    [Google Scholar]
  101. 100.  Modell B, Darlison M 2008. Global epidemiology of haemoglobin disorders and derived service indicators. Bull. World Health Organ. 86:480–87
    [Google Scholar]
  102. 101.  Modell B, Darlison M, Birgens H, Cario H, Faustino P et al. 2007. Epidemiology of haemoglobin disorders in Europe: an overview. Scand. J. Clin. Lab. Investig. 67:39–70
    [Google Scholar]
  103. 102.  Mudiyanse RM 2006. Thalassemia treatment and prevention in Uva province, Sri Lanka: a public opinion survey. Hemoglobin 30:275–89
    [Google Scholar]
  104. 103.  Mudiyanse RM, Senanayake MP, Rathnayake RM 2015. “Safe marriages” for thalassaemia prevention: a KAP survey in Sri Lanka. Transl. Biomed. 6:26–30
    [Google Scholar]
  105. 104.  Mulumba LL, Wilson L 2015. Sickle cell disease among children in Africa: an integrative literature review and global recommendations. Int. J. Africa Nurs. Sci. 3:56–64
    [Google Scholar]
  106. 105.  Murray CJ, Vos T, Lozano R, Naghavi M, Flaxman AD et al. 2013. Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet 380:2197–223
    [Google Scholar]
  107. 106.  Nanayakkara KK, Rodrigo UG, Perera KL, Nanayakkara CD 2017. Pre-natal diagnosis of thalassaemia in Sri Lanka: a ten year review. J. Obstet. Gynaecol. 37:861–63
    [Google Scholar]
  108. 107. Natl. Health Serv. (NHS). 2011. NHS Sickle Cell and Thalassaemia Screening Programme: standards for linked Antenatal and Newborn Screening Programme Rep NHS London:, 2nd ed. http://sicklecellanemia.ca/pdf_2015/UK%20Sickle%20Standards2ndEdition.pdf
    [Google Scholar]
  109. 108. Natl. Health Serv. (NHS). 2017. National Haemoglobinopathy Registry http://nhr.mdsas.com
    [Google Scholar]
  110. 109. Natl. Health Serv. (NHS). 2017. NHS Sickle Cell and Thalassaemia Screening Programme: handbook for antenatal laboratories Handb., NHS London:, 4th ed. https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/656094/Antenatal_Laboratory_Handbook.pdf
    [Google Scholar]
  111. 110. Natl. Health Serv. (NHS). 2017. NHS Sickle Cell and Thalassaemia Screening Programme: handbook for newborn laboratories Handb., NHS London:, 4th ed. https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/585126/NHS_SCT_Handbook_for_Newborn_Laboratories.pdf
    [Google Scholar]
  112. 111.  Ndeezi G, Kiyaga C, Hernandez AG, Munube D, Howard TA et al. 2016. Burden of sickle cell trait and disease in the Uganda Sickle Surveillance Study (US3): a cross-sectional study. Lancet Glob. Health 4:e195–200
    [Google Scholar]
  113. 112.  Neal-Cooper F, Scott RB 1988. Genetic counseling in sickle cell anemia: experiences with couples at risk. Public Health Rep 103:174–78
    [Google Scholar]
  114. 113.  Odunvbun ME, Okolo AA, Rahimy CM 2008. Newborn screening for sickle cell disease in a Nigerian hospital. Public Health 122:1111–16
    [Google Scholar]
  115. 114.  Ohene-Frempong K, Oduro J, Tetteh H, Nkrumah F 2008. Screening newborns for sickle cell disease in Ghana. Pediatrics 121:S120–21
    [Google Scholar]
  116. 115.  Padilla CD, Cutiongco-de la Paz EM 2016. Genetics and genomic medicine in the Philippines. Mol. Genet. Genom. Med. 4:494–503
    [Google Scholar]
  117. 116.  Patel AP, Naik MR, Shah NM, Sharma NP, Parmar PH 2012. Prevalence of common hemoglobinopathies in Gujarat: an analysis of a large population screening program. Natl. J. Community Med. 3:112–16
    [Google Scholar]
  118. 117.  Patra PK, Khodiar PK, Hambleton IR, Serjeant GR 2015. The Chhattisgarh state screening programme for the sickle cell gene: a cost-effective approach to a public health problem. J. Community Genet. 6:361–68
    [Google Scholar]
  119. 118.  Peiris S, Hewapathirana R, Rampatige R, Hanifa A 2011. National Thalassaemia eRegistry: using IT for effective health resource management. Sri Lanka J. Bio-Med. Inform. 1:S15
    [Google Scholar]
  120. 119.  Pereira MM, Corrons JV 2009. Neonatal haemoglobinopathy screening in Spain. J. Clin. Pathol. 62:22–25
    [Google Scholar]
  121. 120.  Petrou M, Modell B 2013. Surveillance. Prevention of Thalassaemias and Other Haemoglobin Disorders, Vol. 1: Principles J Old, chap. 9 Nicosia, Cyprus: Thalass. Int. Fed, 2nd ed. https://www.ncbi.nlm.nih.gov/books/NBK190472
    [Google Scholar]
  122. 121.  Piel FB 2016. The present and future global burden of the inherited disorders of hemoglobin. Hematol. Oncol. Clin. N. Am. 30:327–41
    [Google Scholar]
  123. 122.  Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW et al. 2013. Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet 381:142–51
    [Google Scholar]
  124. 123.  Piel FB, Tatem AJ, Huang Z, Gupta S, Williams TN, Weatherall DJ 2014. Global migration and the changing distribution of sickle haemoglobin: a quantitative study of temporal trends between 1960 and 2000. Lancet Glob. Health 2:e80–89
    [Google Scholar]
  125. 124. Portail Epidémiol. France. 2015. Registre des patients thalassémiques en France (Registre qualifié) Version 2, ID 248, updated Oct. 19. https://epidemiologie-france.aviesan.fr/en/epidemiology/records/registre-des-patients-thalassemiques-en-france-registre-qualifie
    [Google Scholar]
  126. 125. Public Health Engl. 2013. Population screening programmes: NHS sickle cell and thalassaemia (SCT) screening programme https://www.gov.uk/topic/population-screening-programmes/sickle-cell-thalassaemia
    [Google Scholar]
  127. 126.  Queiruga G 2015. Neonatal screening—its importance and impact in Latin America. eJIFCC 26:326–31
    [Google Scholar]
  128. 127.  Rahimy M, Gangbo A, Ahouignan G, Alihonou E 2009. Newborn screening for sickle cell disease in the Republic of Benin. J. Clin. Pathol. 62:46–48
    [Google Scholar]
  129. 128.  Rajab A, Al Rashdi I, Al Salmi Q 2013. Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics. J. Community Genet. 4:391–97
    [Google Scholar]
  130. 129.  Ryan K, Bain BJ, Worthington D, James J, Plews D et al. 2010. Significant hemoglobinopathies: guidelines for screening and diagnosis. Br. J. Haematol. 149:35–49
    [Google Scholar]
  131. 130.  Saffia M, Howard N 2015. Exploring the effectiveness of mandatory premarital screening and genetic counselling programmes for β-thalassaemia in the Middle East: a scoping review. Public Health Genom 18:193–203
    [Google Scholar]
  132. 131.  Salehi R, Khosravi S, Salehi M, Kheirollahi M, Khanahmad H 2017. Simple and easy to perform preimplantation genetic diagnosis for β-thalassemia major using combination of conventional and fluorescent polymerase chain reaction. Adv. Biomed. Res. 6:23
    [Google Scholar]
  133. 132.  Samarakoon PS, Wijesuriya AP 2011. A clinical audit of thalassaemia management at the Lady Ridgeway Hospital for Children, Colombo. Sri Lanka J. Child Health 40:48–53
    [Google Scholar]
  134. 133.  Samavat A, Modell B 2004. Iranian national thalassaemia screening programme. BMJ 329:1134–37
    [Google Scholar]
  135. 134.  Sankaran VG, Orkin SH 2013. The switch from fetal to adult hemoglobin. Cold Spring Harb. Perspect. Med. 3:a011643
    [Google Scholar]
  136. 135.  Sayani FA, Kwiatkowski JL 2015. Increasing prevalence of thalassemia in America: implications for primary care. Ann. Med. 47:592–604
    [Google Scholar]
  137. 136.  Serjeant GR, Ghosh K, Patel J 2016. Sickle cell disease in India: a perspective. Indian J. Med. Res. 143:21–24
    [Google Scholar]
  138. 137.  Shang X, Peng Z, Ye Y, Zhang X, Chen Y et al. 2017. Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies. EBioMedicine 23:150–59
    [Google Scholar]
  139. 138.  Soteriades ES, Weatherall D 2014. The Thalassemia International Federation: a global public health paradigm. Thalass. Rep. 4:1840
    [Google Scholar]
  140. 139.  Streetly A, Sisodia R, Dick M, Latinovic R, Hounsell K, Dormandy E 2018. Evaluation of newborn sickle cell screening programme in England: 2010–2016. Arch. Dis. Child. 103:648–53
    [Google Scholar]
  141. 140.  Tamhankar PM, Agarwal S, Arya V, Kumar R, Gupta UR, Agarwal SS 2009. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenat. Diagn. 29:83–88
    [Google Scholar]
  142. [Google Scholar]
  143. 142.  Tan YL, Kidson-Gerber G 2016. Antenatal haemoglobinopathy screening in Australia. Med. J. Aust. 204:226–30
    [Google Scholar]
  144. 143.  Tarazi I, Al Najjar E, Lulu N, Sirdah M 2007. Obligatory premarital tests for β‐thalassaemia in the Gaza Strip: evaluation and recommendations. Int. J. Lab. Hematol. 29:111–18
    [Google Scholar]
  145. 144.  Taylor SM, Parobek CM, Fairhurst RM 2012. Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis. Lancet Infect. Dis. 12:457–68
    [Google Scholar]
  146. 145.  Temel S, van Voorst SF, de Jong-Potjer LC, Waelput AJ, Cornel MC et al. 2015. The Dutch national summit on preconception care: a summary of definitions, evidence and recommendations. J. Community Genet. 6:107–15
    [Google Scholar]
  147. 146.  Thein SL 2005. Genetic modifiers of beta-thalassemia. Haematologica 90:649–60
    [Google Scholar]
  148. 147.  Therrell BL, Adams J 2007. Newborn screening in North America. J. Inherit. Metab. Dis. 30:447–65
    [Google Scholar]
  149. 148.  Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A et al. 2015. Current status of newborn screening worldwide. Semin. Perinatol. 39:171–87
    [Google Scholar]
  150. 149.  Tluway F, Makani J 2017. Sickle cell disease in Africa: an overview of the integrated approach to health, research, education and advocacy in Tanzania, 2004–2016. Br. J. Haematol. 177:919–29
    [Google Scholar]
  151. 150.  Tong L, Kauer J, Wachsmann-Hogiu S, Chu K, Dou H, Smith ZJ 2017. A new red cell index and portable RBC analyzer for screening of iron deficiency and thalassemia minor in a Chinese population. Sci. Rep. 7:10510
    [Google Scholar]
  152. 151.  Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R et al. 2015. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur. J. Hum. Genet. 23:426–37
    [Google Scholar]
  153. 152.  Tshilolo L, Aissi LM, Lukusa D, Kinsiama C, Wembonyama S et al. 2009. Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns. J. Clin. Pathol. 62:35–38
    [Google Scholar]
  154. 153.  Verma IC, Saxena R, Kohli S 2011. Past, present and future scenario of thalassaemic care and control in India. Indian J. Med. Res. 134:507–21
    [Google Scholar]
  155. 154.  Voskaridou E, Ladis V, Kattamis A, Hassapopoulou E, Economou M et al. 2012. A national registry of haemoglobinopathies in Greece: deducted demographics, trends in mortality and affected births. Ann. Hematol. 91:1451–58
    [Google Scholar]
  156. 155.  Waheed F, Fisher C, Awofeso A, Stanley D 2016. Carrier screening for beta-thalassemia in the Maldives: perceptions of parents of affected children who did not take part in screening and its consequences. J. Community Genet. 7:243–53
    [Google Scholar]
  157. 156.  Wang HC, Hsieh LL, Liu YC, Hsiao HH, Lin SK et al. 2017. The epidemiologic transition of thalassemia and associated hemoglobinopathies in southern Taiwan. Ann. Hematol. 96:183–88
    [Google Scholar]
  158. 157.  Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR (Am. Coll. Med. Genet. Newborn Screen. Expert Group). 2006. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics 117:S296–307
    [Google Scholar]
  159. 158.  Weatherall DJ 2001. Phenotype–genotype relationships in monogenic disease: lessons from the thalassaemias. Nat. Rev. Genet. 2:245–55
    [Google Scholar]
  160. 159.  Weatherall DJ 2010. The importance of micromapping the gene frequencies for the common inherited disorders of haemoglobin. Br. J. Haematol. 149:635–37
    [Google Scholar]
  161. 160.  Weatherall DJ 2010. The inherited diseases of hemoglobin are an emerging global health burden. Blood 115:4331–36
    [Google Scholar]
  162. 161.  Weatherall DJ 2013. The role of the inherited disorders of hemoglobin, the first “molecular diseases,” in the future of human genetics. Annu. Rev. Genom. Hum. Genet. 14:1–24
    [Google Scholar]
  163. 162.  Weatherall DJ, Clegg JB 2001. Inherited haemoglobin disorders: an increasing global health problem. Bull. World Health Organ. 79:704–12
    [Google Scholar]
  164. 163.  Weatherall DJ, Clegg JB, eds. 2001. The Thalassaemia Syndromes Oxford, UK: Blackwell Sci, 4th ed..
    [Google Scholar]
  165. 164.  Wilson K, Kennedy SJ, Potter BK, Geraghty MT, Chakraborty P 2010. Developing a national newborn screening strategy for Canada. Health Law Rev 18:31–39
    [Google Scholar]
  166. 165.  Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C et al. 2016. Joint SOGC–CCMG opinion for reproductive genetic carrier screening: an update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing. J. Obstet. Gynaecol. Can. 38:742–62
    [Google Scholar]
  167. 166. World Health Organization (WHO). 1998. Proposed international guidelines on ethical issues in medical genetics and genetic services Rep. WHO/HGN/GL/ETH/98.1, WHO Geneva: http://www.who.int/genomics/publications/en/ethicalguidelines1998.pdf
    [Google Scholar]
  168. 167. World Health Organization (WHO). 2006. Thalassaemia and other haemoglobinopathies Rep. EB118/5 WHO Geneva: http://apps.who.int/gb/archive/pdf_files/EB118/B118_5-en.pdf
    [Google Scholar]
  169. 168. World Health Organization (WHO). 2006. Sickle cell anaemia. Fifty-Ninth World Health Assembly: Resolutions and Decisions, Annexes26 Geneva: WHO http://www.who.int/gb/ebwha/pdf_files/WHA59-REC1/e/WHA59_2006_REC1-en.pdf
    [Google Scholar]
  170. 169. World Health Organization (WHO). 2008. Management of haemoglobin disorders: report of joint WHO-TIF meeting, Nicosia, Cyprus, 16–18 November 2007 Rep WHO Geneva: http://apps.who.int/iris/bitstream/10665/43969/1/9789241597128_eng.pdf
    [Google Scholar]
  171. 170.  Wyman J 1948. Heme proteins. Adv. Protein Chem. 4:407–531
    [Google Scholar]
  172. 171.  Yamsri S, Sanchaisuriya K, Fucharoen G, Sae‐ung N, Ratanasiri T, Fucharoen S 2010. Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center. Prenat. Diagn. 30:540–46
    [Google Scholar]
  173. 172.  Yang X, Kanter J, Piety NZ, Benton MS, Vignes SM, Shevkoplyas SS 2013. A simple, rapid, low-cost diagnostic test for sickle cell disease. Lab Chip 13:1464–67
    [Google Scholar]
  174. 173.  Yu C, Huang S, Wang M, Zhang J, Liu H et al. 2017. A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots. J. Proteom. 154:78–84
    [Google Scholar]
  175. 174.  Zeng YT, Huang SZ 1987. Disorders of haemoglobin in China. J. Med. Genet. 24:578–83
    [Google Scholar]
  176. 175.  Zlotogora J, Carmi R, Lev B, Shalev SA 2009. A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur. J. Hum. Genet. 17:591–97
    [Google Scholar]
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