The prevention of thalassemia

Cold Spring Harbor Perspectives in Medicine

Volumn 3, Issue 2, 2013, Pages

  Cao, Antonio ^a   Kan, Yuet Wai ^b  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COST OF ILLNESS; FEMALE; FORECASTING; GENETIC COUNSELING; GENETIC SCREENING; HEALTH; HEALTH EDUCATION; HEALTH PROMOTION; HUMAN; MATERNAL CARE; METHODOLOGY; MOLECULAR DIAGNOSIS; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; REVIEW; THALASSEMIA;

COST OF ILLNESS; FEMALE; FORECASTING; GENETIC COUNSELING; GENETIC TESTING; HEALTH EDUCATION; HEALTH PROMOTION; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE; PRECONCEPTION CARE; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; THALASSEMIA; WORLD HEALTH;

MLCS; MLOWN;

EID: 84878979257     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a011775     Document Type: Article

References (105)

1. Adinolfi M. 1995. Non-or minimally invasive prenatal diagnostic tests on maternal blood samples or transcervical cells. Prenat Diagn 15: 889-896.
2. Ahmed S., Saleem M, Modell B, Petrou M. 2002. Screening extended families for genetic hemoglobin disorders in Pakistan. N Engl J Med 347: 1162-1168.
3. Alwan A., Modell B. 2003. Recommendations for introducing genetics services in developing countries. Nat Rev Genet 4: 61-68.
4. Amato A., Grisanti P, Lerone M, Ponzini D, Di Biagio P, Cappabianca M.P., Giordano PC. 2009. Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: The Latium example. Prenat Diagn 29: 1171-1174.
5. Angastiniotis M.A., Hadjiminas MG. 1981. Prevention of thalassaemia in Cyprus. Lancet 1: 369-371.
6. Angastiniotis M., Modell B. 1998. Global epidemiology of hemoglobin disorders. Ann NYAcad Sci 850: 251-269.
7. Angastiniotis M., Modell B, Englezos P, Boulyjenkov V. 1995. Prevention and control of haemoglobinopathies. Bull World Health Organ 73: 375-386.
8. Arnaud L., Saison C, Helias V, Lucien N, Steschenko D, Giarratana M.C., Prehu C, Foliguet B, Montout L, de Brevern A.G., et al. 2010. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 87: 721-727.
9. Badens C., Joly P, Agouti I, Thuret I, Gonnet K, Fattoum S, Francina A., Simeoni MC, Loundou A, Pissard S. 2011. Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease. Haematologica 96: 1712-1714.
10. Bianchi D.W., Williams JM, Sullivan LM, Hanson FW, Klinger K.W., Shuber AP. 1997. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 61: 822-829.
11. Borg J., Papadopoulos P, Georgitsi M, Gutierrez L, Grech G, Fanis P., Phylactides M, Verkerk AJ, van der Spek PJ, Scerri C.A., et al. 2010. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet 42: 801-805.
12. Cai S.P., Kan YW. 1990. Identification of the multiple β-thalassemia mutations by denaturing gradient gel electrophoresis. J Clin Invest 85: 550-553.
13. Canatan D., Kose MR, Ustundag M, Haznedaroglu D, Ozbas S. 2006. Hemoglobinopathy control program in Turkey. Community Genet 9: 124-126.
14. 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: 137-151; discussion 151-135.
15. Cao A., Galanello R, Rosatelli MC. 1998. Prenatal diagnosis and screening of the haemoglobinopathies. Baillieres Clin Haematol 11: 215-238.
16. Cao A., Congiu R, Sollaino MC, Desogus MF, Demartis FR, Loi D., Cau M, Galanello R. 2008. Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13-to 14-year-old students of the Sardinian population: Preliminary findings. Community Genet 11: 121-128.
17. Chern J.P., Lin KH, Su YN, Lu MY, Jou ST, Lin DT, Wang SC, Lin KS. 2006. Impact of a national β-thalassemia carrier screening program on the birth rate of thalassemia major. Pediatr Blood Cancer 46: 72-76.
18. Cheung M.C., Goldberg JD, Kan YW. 1996. Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet 14: 264-268.
19. Chong S.S., Boehm CD, Higgs DR, Cutting GR. 2000. Singletube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 95: 360-362.
20. Chui DH. 2005. α-Thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann NY Acad Sci 1054: 25-32.
21. Faa V., Masala M, Cao A, Rosatelli MC. 2010. α Globin gene duplications in β thalassemia patients with intact β globin gene. Blood Cells Mol Dis 44: 156-158.
22. Fallah M.S., Mahdian R, Aleyasin SA, Jamali S, Hayat-Nosaeid M., Karimipour M, Raeisi M, Zeinali S. 2010. Development of a quantitative real-time PCR assay for detection of unknown α-globin gene deletions. Blood Cells Mol Dis 45: 58-64.
23. Fucharoen G., Sanchaisuriya K, Sae-ung N, Dangwibul S, Fucharoen S. 2004. A simplified screening strategy for thalassaemia and haemoglobin E in rural communities in south-east Asia. BullWorld Health Organ 82: 364-372.
24. Galanello R., Ruggeri R, Addis M, Paglietti E, Cao A. 1981. Hemoglobin A2 in iron deficient β-thalassemia heterozygotes. Hemoglobin 5: 613-618.
25. Galanello R., Ruggeri R, Paglietti E, Addis M, Melis MA, Cao A. 1983. A family with segregating triplicated α globin loci and β thalassemia. Blood 62: 1035-1040.
26. Galanello R., Dessi E, Melis MA, Addis M, Sanna MA, Rosatelli C., Argiolu F, Giagu N, Turco MP, Cacace E, et al. 1989. Molecular analysis of β0-thalassemia intermedia in Sardinia. Blood 74: 823-827.
27. Galanello R., Barella S, Ideo A, Gasperini D, Rosatelli C, Paderi L., Paglietti E, Sollaino C, Perseu L, Loi D, et al. 1994. Genotype of subjects with borderline hemoglobin A2 levels: Implication for β-thalassemia carrier screening. Am J Hematol 46: 79-81.
28. Galanello R., Sollaino C, Paglietti E, Barella S, Perra C, Doneddu I., Pirroni MG, Maccioni L, Cao A. 1998. α-Thalassemia carrier identification by DNA analysis in the screening for thalassemia. Am J Hematol 59: 273-278.
29. Galanello R., Sanna S, Perseu L, Sollaino MC, Satta S, Lai M.E., Barella S, Uda M, Usala G, Abecasis GR, et al. 2009. Amelioration of Sardinian β0 thalassemia by genetic modifiers. Blood 114: 3935-3937.
30. Galarneau G., Palmer CD, Sankaran VG, Orkin SH, Hirschhorn J.N., Lettre G. 2010. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet 42: 1049-1051.
31. Gasperini D., Cao A, Paderi L, Barella S, Paglietti E, Perseu L, Loi D., Galanello R. 1993. Normal individuals with high Hb A2 levels. Br J Haematol 84: 166-168.
32. Gibson W.T., Harvard C, Qiao Y, Somerville MJ, Lewis ME, Rajcan-Separovic E. 2008. Phenotype-genotype characterization of α-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. AmJ Med Genet A 146A: 225-232.
33. Gonzalez-Redondo JM, Stoming TA, Kutlar A, Kutlar F, Lanclos K.D., Howard EF, Fei YJ, Aksoy M, Altay C, Gurgey A., et al. 1989. A C→T substitution at nt 2101 in a conserved DNA sequence of the promotor region of the β-globin gene is associated with "silent" β-thalassemia. Blood 73: 1705-1711.
34. Handyside A.H., Kontogianni EH, Hardy K, Winston RM. 1990. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768-770.
35. Harteveld C.L., Voskamp A, Phylipsen M, Akkermans N, den Dunnen J.T., White SJ, Giordano PC. 2005. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α-and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 42: 922-931.
36. Harteveld C.L., Refaldi C, Cassinerio E, Cappellini MD, Giordano PC. 2008. Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol Dis 40: 312-316.
37. Higgs D.R., Engel JD, Stamatoyannopoulos G. 2011. Thalassaemia. Lancet 379: 373-383.
38. Hobbins J.C., Mahoney MJ. 1974. In utero diagnosis of hemoglobinopathies. Technic for obtaining fetal blood. N Engl J Med 290: 1065-1067.
39. Hollenberg M.D., Kaback MM, Kazazian HH Jr, 1971. Adult hemoglobin synthesis by reticulocytes from the human fetus at midtrimester. Science 174: 698-702.
40. Inati A., Zeineh N, Isma'eel H, Koussa S, Gharzuddine W, Taher A. 2006. β-thalassemia: The Lebanese experience. Clin Lab Haematol 28: 217-227.
41. Jiao Z.X., Zhuang GL, Zhou CQ, Shu YM, Li J, Liang XY, Zhang M.F., Deng MF. 2003. Successful preimplantation genetic diagnosis for β-thalassemia using primer extension preamplification. Zhonghua Fu Chan Ke Za Zhi 38: 143-146.
42. Kalokairinou EM. 2007. The experience of β-thalassaemia and its prevention in Cyprus. Med Law 26: 291-307.
43. Kalokairinou EM. 2008. The experience of β-thalassaemia and its prevention in Cyprus. Med Law 27: 825-841.
44. KanYW, Nathan DG. 1968. β Thalassemia trait: Detection at birth. Science 161: 589-590.
45. Kan Y.W., Dozy AM, Alter BP, Frigoletto FD, Nathan DG. 1972. Detection of the sickle gene in the human fetus. Potential for intrauterine diagnosis of sickle-cell anemia. N Engl J Med 287: 1-5.
46. KanYW, Valenti C, Carnazza V, Guidotti R, Rieder RF. 1974. Fetal blood-sampling in utero. Lancet 1: 79-80.
47. Kan Y.W., Golbus MS, Klein P, Dozy AM. 1975. Successful application of prenatal diagnosis in a pregnancy at risk for homozygous β-thalassemia. N Engl J Med 292: 1096-1099.
48. Kan Y.W., Golbus MS, Dozy AM. 1976. Prenatal diagnosis of α-thalassemia. Clinical application of molecular hybridization. N Engl J Med 295: 1165-1167.
49. Kan Y.W., Lee KY, Furbetta M, Angius A, Cao A. 1980. Polymorphism ofDNA sequence in the β-globin gene region. Application to prenatal diagnosis of β0 thalassemia in Sardinia. N Engl J Med 302: 185-188.
50. Kattamis C., Metaxotou-Mavromati A, WoodWG, Nash JR, Weatherall DJ. 1979. The heterogeneity of normal Hb A2-β thalassaemia in Greece. Br J Haematol 42: 109-123.
51. Kokkali G., Traeger-Synodinos J, Vrettou C, Stavrou D, Jones G.M., Cram DS, Makrakis E, Trounson AO, Kanavakis E., Pantos K. 2007. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: A pilot study. Hum Reprod 22: 1443-1449.
52. Kolnagou A., Kontoghiorghes GJ. 2009. Advances in the prevention and treatment are changing thalassemia from a fatal to a chronic disease. Experience from a Cyprus model and its use as a paradigm for future applications. Hemoglobin 33: 287-295.
53. Kuliev A., Rechitsky S, Verlinsky O, Ivakhnenko V, Evsikov S, Wolf G., Angastiniotis M, Georghiou D, Kukharenko V, Strom C., et al. 1998. Preimplantation diagnosis of thalassemias. J Assist Reprod Genet 15: 219-225.
54. Kuliev A., Pakhalchuk T, Verlinsky O, Rechitsky S. 2011. Preimplantation genetic diagnosis for hemoglobinopathies. Hemoglobin 31: 273-277.
55. Kulozik A.E., Thein SL, Wainscoat JS, Gale R, Kay LA, Wood J.K., Weatherall DJ, Huehns ER. 1987. Thalassaemia intermedia: Interaction of the triple α-globin gene arrangement and heterozygous β-thalassaemia. Br J Haematol 66: 109-112.
56. Lam Y.H., Tang MH. 2002. Middle cerebral artery Doppler study in fetuses with homozygous α-thalassaemia-1 at 12-13 weeks of gestation. Prenat Diagn 22: 56-58.
57. Lettre G., Sankaran VG, Bezerra MA, Araujo AS, Uda M, Sanna S., Cao A, Schlessinger D, Costa FF, Hirschhorn JN, et al. 2008. DNA polymorphisms at the BCL11A, HBS1LMYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci 105: 11869-11874.
58. Li DZ. 2009. Premarital screening for thalassemia in mainland China. Prenat Diagn 29: 637-638.
59. Lo Y.M., Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman C.W., Wainscoat JS. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
60. Lo Y.M., Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng Y.W., Leung TY, Lau TK, Cantor CR, et al. 2010. Maternal plasma DNA sequencing reveals the genomewide genetic and mutational profile of the fetus. Sci Transl Med 2: 61ra91.
61. Loudianos G., Murru S, Ristaldi MS, Cossu P, Pilia G, Porcu S., Sciarratta GV, Parodi MI, Cao A, Pirastu M. 1992. A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of southern Italian origin. Hum Mutat 1: 169-171.
62. Loukopoulos D. 1996. Current status of thalassemia and the sickle cell syndromes in Greece. Semin Hematol 33: 76-86.
63. Lun F.M., Tsui NB, Chan KC, Leung TY, Lau TK, Charoenkwan P, Chow KC, Lo WY, Wanapirak C, Sanguansermsri T, et al. 2008. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci 105: 19920-19925.
64. Melis M.A., Galanello R, Cao A. 1983. α Globin gene analysis in a Sardinian family with interacting α and β thalassaemia genes. Br J Haematol 53: 667-671.
65. Modell B., Darlison M. 2008. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 86: 480-487.
66. Modell B., Darlison M, Birgens H, Cario H, Faustino P, Giordano P.C., Gulbis B, Hopmeier P, Lena-Russo D, Romao L., et al. 2007. Epidemiology of haemoglobin disorders in Europe: An overview. Scand J Clin Lab Invest 67: 39-69.
67. Moi P., Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M. 1988. Delineation of the molecular basis of δ-and normal HbA2 β-thalassemia. Blood 72: 530-533.
68. Moi P., Loudianos G, Lavinha J, Murru S, Cossu P, Casu R, Oggiano L., Longinotti M, Cao A, Pirastu M. 1992. δ-Thalassemia due to a mutation in an erythroid-specific binding protein sequence 3′ to the δ-globin gene. Blood 79: 512-516.
69. Monk M., Holding C. 1990. Amplification of a β-haemoglobin sequence in individual human oocytes and polar bodies. Lancet 335: 985-988.
70. Myers R.M., Fischer SG, Lerman LS, Maniatis T. 1985. Nearly all single base substitutions inDNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res 13: 3131-3145.
71. Newton C.R., Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF. 1989. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17: 2503-2516.
72. Old J.M., Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P., Kotea N, Fisher C, Riazuddin S, Saxena R, et al. 2001. A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 25: 397-407.
73. Orita M., Iwahana H, Kanazawa H, Hayashi K, Sekiya T. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci 86: 2766-2770.
74. Orofino M.G., Argiolu F, Sanna MA, Rosatelli MC, Tuveri T, Scalas M.T., Badiali M, Cossu P, Puddu R, Lai ME, et al. 2003. Fetal HLA typing in β thalassaemia: Implications for haemopoietic stem-cell transplantation. Lancet 362: 41-42.
75. Perseu L., Satta S, Moi P, Demartis FR, Manunza L, Sollaino M.C., Barella S, Cao A, Galanello R. 2011. KLF1 gene mutations cause borderline HbA2. Blood 118: 4454-4458.
76. Phylipsen M., Harteveld CL, de Metz M, Gallivan MV, Arkesteijn S.G., Luo HY, Chui DH, Giordano PC. 2010. New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or delta6(A3)Glu→Gln, GAG>>CAG]. Hemoglobin 34: 445-450.
77. Pirastu M., Kan YW, Cao A, Conner BJ, Teplitz RL, Wallace RB. 1983. Prenatal diagnosis of β-thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med 309: 284-287.
78. Premawardhena A., De Silva S, Arambepola M, Olivieri N, Merson L, Muraco J, Allen A, Fisher C, Peto T, Vichinsky E., et al. 2004. Thalassemia in Sri Lanka: A progress report. Hum Mol Genet 13: R203-R206.
79. Ristaldi M.S., Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D., Fanni B, Sciarratta GV, Agosti S, Parodi M.I., et al. 1990. The C-T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β thalassaemia in the Italian population. Br J Haematol 74: 480-486.
80. Rosatelli C., Falchi AM, Scalas MT, Tuveri T, Furbetta M, Cao A. 1984. Hematological phenotype of the double heterozygous state for α and β thalassemia. Hemoglobin 8: 25-35.
81. Rosatelli M.C., Dozy A, Faa V, Meloni A, Sardu R, Saba L, Kan Y.W., Cao A. 1992. Molecular characterization of βthalassemia in the Sardinian population. Am J Hum Genet 50: 422-426.
82. Saiki R.K., Walsh PS, Levenson CH, Erlich HA. 1989. Genetic analysis of amplified DNA with immobilized sequencespecific oligonucleotide probes. Proc Natl Acad Sci 86: 6230-6234.
83. Samavat A., Modell B. 2004. Iranian national thalassaemia screening programme. BMJ 329: 1134-1137.
84. Sanger F., Nicklen S, Coulson AR. 1977. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci 74: 5463-5467.
85. Sankaran V.G., Nathan DG. 2010. Reversing the hemoglobin switch. N Engl J Med 363: 2258-2260.
86. Satta S., Perseu L, Moi P, Asunis I, Cabriolu A, Maccioni L, Demartis F.R., Manunza L, Cao A, Galanello R. 2011. Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica 96: 767-770.
87. Simpson J.L., Elias S. 1993. Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology. JAMA 270: 2357-2361.
88. Singleton B.K., Burton NM, Green C, Brady RL, Anstee DJ. 2008. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. Blood 112: 2081-2088.
89. So C.C., Chan AY, Luo HY, Verhovsek M, Chui DH, Ling SC, Chan LC. 2011. Hb A2 Hong Kong-A novel δ-globin variant in a Chinese family masks the diagnosis of βthalassemia trait. Hemoglobin 35: 162-165.
90. Sollaino M.C., Paglietti ME, Perseu L, Giagu N, Loi D, Galanello R. 2009. Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. Haematologica 94: 1445-1448.
91. Srisupundit K., PiyamongkolW, Tongsong T. 2009. Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity. Ultrasound Obstet Gynecol 33: 694-697.
92. Thein SL. 2008. Genetic modifiers of the β-haemoglobinopathies. Br J Haematol 141: 357-366.
93. Thein S.L., Menzel S. 2009. Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol 145: 455-467.
94. Thein S.L., Al-Hakim I, Hoffbrand AV. 1984. Thalassaemia intermedia: A new molecular basis. Br J Haematol 56: 333-337.
95. Uda M., Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W., Usala G, Busonero F, Maschio A, Albai G, et al. 2008. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc Natl Acad Sci 105: 1620-1625.
96. Verlinsky Y., Ginsberg N, Lifchez A, Valle J, Moise J, Strom CM. 1990. Analysis of the first polar body: Preconception genetic diagnosis. Hum Reprod 5: 826-829.
97. Wainscoat J.S., Kanavakis E, Wood WG, Letsky EA, Huehns E.R., Marsh GW, Higgs DR, Clegg JB, Weatherall DJ. 1983. Thalassaemia intermedia in Cyprus: The interaction of α and β thalassaemia. Br J Haematol 53: 411-416.
98. Waye J.S., Patterson M, Walker L, Eng B, Nakamura LM, Lafferty J.D., Yong SL, Wu JK, Chui DH. 2003. β-Thalassemia in association with a new δ-chain hemoglobin variant [d116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis. Am J Hematol 74: 179-181.
99. Weatherall DJ. 2010a. The inherited diseases of hemoglobin are an emerging global health burden. Blood 115: 4331-4336.
100. Weatherall DJ. 2010b. Thalassemia as a global health problem: Recent progress toward its control in the developing countries. Ann NY Acad Sci 1202: 17-23.
101. Weatherall D.J., Clegg JB. 2001. The thalassaemia syndromes. Blackwell Science, Oxford.
102. WHO. 1994. Guidelines for control of haemoglobin disorders. In WHO/HDP/HB/GL/941. WHO, Geneva.
103. Xu Y.W., Zeng YH, Deng J, Liu Y, Gao L, Zhou CQ, Zhuang GL. 2009. Preimplantation genetic diagnosis for α-thalassaemia in China. J Assist Reprod Genet 26: 399-403.
104. Zachaki S., Vrettou C, Destouni A, Kokkali G, Traeger-Synodinos J., Kanavakis E. 2011. Novel and known microsatellite markerswithin the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes. Hemoglobin 35: 56-66.
105. Zhou D., Liu K, Sun CW, Pawlik KM, Townes TM. 2010. KLF1 regulates BCL11A expression and γ-to β-globin gene switching. Nat Genet 42: 742-744.