141
Views
10
CrossRef citations to date
0
Altmetric
Reviews

Molecular diagnostics for haemoglobinopathies

, BSc PhD & , BSc MSc PhD
Pages 225-240 | Published online: 15 Mar 2010

Bibliography

  • Old J, Traeger-Synodios J, Galanello R, Prevention of Thalassaemias and other haemoglobin disorders. Volume 2. Thalassaemia International Federation (TIF), Nicosia, Cyprus; 2005
  • Henderson S, Timbs A, McCarthy J, Incidence of haemoglobinopathies in various populations – The impact of immigration. Clin Biochem 2009;42:1745-58
  • Hardison RC, Chui DHK, Giardine B, HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19(3):225-233. Available from: http://globin.cse.psu.edu
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, Unstable and thalassemic alpha chain Hb variants: a cause for Hb H disease and thalassemia intermedia. Hemoglobin 2008;32(4):327-49
  • Working Party of the General Haematology Task Force of the British Committee for Standards in Haematology. The Laboratory Diagnosis of Haemoglobinopathies. Br J Haematol 1998;101:783-92
  • Bowden DK, Vickers MA, Higgs DR. A PCR-based strategy to detect the common severe determinants of alpha-thalassaemia. Br J Haematol 1992;81:104-8
  • Dode C, Krishnamoorthy R, Lamb J, Rochette J. Rapid analysis of -alpha3.7 thalassaemia and alphaalphaalphaanti 3.7 triplication by enzymatic amplification analysis. Br J Haematol 1992;82:105-11
  • Baysal E, Huisman THJ. Detection of common deletional alpha-thalassaemia-2 determinants by PCR. Am J Hematol 1994;46:208-13
  • Ko T-M, Li S-F. Molecular characterization of the --FIL determinant of alpha-thalassaemia (corrigendum for Ko, et al 1998). Am J Hematol 1999;60:173
  • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000;95:360-2
  • Liu YT, Old JM, Fisher CA, Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex PCRs. Br J Haematol 2000;108:295-9
  • Tan ASC, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassaemia. Blood 2001;98:250-1
  • Karnpean R, Fucharoen G, Fucharoen S, Accurate prenatal diagnosis of Hb Bart's hydrops fetalis in daily practice with a double-check PCR system. Acta Haematol 2009;121(4):227-33
  • Harteveld CL, Voskamp A, Phylipsen M, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 2005;42:922-31
  • Liu JZ, Han H, Schoulen JP, Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification. Hemoglobin 2008;32(6):561-71
  • Harteveld CL, Refaldi C, Cassinerio E, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells Mol Dis 2008;40(3):312-6
  • Sun CF, Lee CH, Cheng SW, Real-time quantitative PCR analysis for alpha-thalassemia-1 of Southeast Asian type deletion in Taiwan. Clin Genet 2001;60:305-9
  • Pornprasert S, Phusua A, Suanta S, Detection of alpha-thalasemia-1 Southeast Asian type using real-time gap-PCR with STBR green1 and high resoulution melting analysis. Eur J Haematol 2008;80(6):510-4
  • Ou-Yang H, Hua L, Mo HQ, Xu Xm. Rapid, accurate genotyping of the common alpha (4.2) deletion based on the use of denaturing HPLC. J Clin Pathol 2004;57:159-63
  • Zesong L, Ruijun G, Wen Z. Rapid detection of deletional alpha-thalassemia by an oligonucleotide microarray. Am J Hematol 2005;80:306-8
  • Bang-Ce Y, Hongqiong L, Zhuanfong Z, Simultaneous detection of alpha-thalassemia and beta-thalassemia by oligonucleotide microarray. Haematologica 2004;89:1010-2
  • Molchanova TP, Pobedimskaya DD, Postnikov YV. A simplified procedure for sequencing amplified DNA containing the alpha-2 or alpha-1 globin gene. Hemoglobin 1994;18:251-5
  • Ko TM, Tseng LH, Hsieh FJ, Lee TY. Prenatal diagnosis of HbH disease due to compound heterozygosity for south-east Asian deletion and Hb Constant Spring by polymerase chain reaction. Prenat Diagn 1993;13:143-6
  • Foglietta E, Bianco I, Maggio A, Giambona A. Rapid detection of six common Mediterranean and three non-Mediterranean alpha-thalassemia point mutations by reverse dot blot. Am J Hematol 2003;74(3):191-5
  • Eng B, Patterson M, Walker L, Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay. Genet Test 2001;5(4):327-9
  • Puehringer H, Najmabadi H, Law HY, Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clin Chem Lab Med 2007;45(5):605-10
  • Henderson S, Pitman M, McCarthy J, Molecular prenatal diagnosis of Hb H Hydrops Fetalis caused by haemoglobin Adana and the implications to antenatal screening for alpha-thalassaemia. Prenat Diagn 2008;28:859-61
  • Patrinos GP, Giardine B, Riemer C, Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004;32(Database issue):D537-541
  • Old J. Screening and genetic diagnosis of hemoglobin disorders. Blood Rev 2003;17:43-53
  • Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest 2006;66:1-16
  • Ristaldi MS, Pirastu M, Rosatelli C, Cao A. Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes. Prenat Diagn 1989;9:629-38
  • Saiki RK, Walsh PS, Levenson CH, Erlich HA. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 1989;86:6230-4
  • Maggio A, Giambona A, Cai SP, Rapid and simultaneous typing of hemoglobin S, hemoglobin C and seven Mediterranean beta-thalassaemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 1993;81:239-42
  • Sutcharitchan P, Saiki R, Huisman THJ, Reverse dot-blot detection of the African-American beta-thalassaemia mutations. Blood 1995;86:1580-5
  • Sutcharitchan P, Saiki R, Fucharoen S, Reverse dot-blot detection of Thai beta-thalassaemia mutations. Br J Haematol 1995;90:809-16
  • ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, A-1120 Vienna, Austria Available from: www.Viennalab.com
  • Bio-Rad Ltd., Bio-Rad House, Maxted Road, Hemel Hempstead, Hertfordshire HP2 7DX, UK. Available from: www.bio-rad.com
  • Ugozzoli LA, Lowery JD, Reyes AA, Evaluation of the BeTha gene 1 kit for the qualitative detection of the eight most common Mediterranean beta-thalassemia mutations. Am J Hematol 1998;59:214-22
  • Gemignani F, Perra C, Landi S, Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. Clin Chem 2002;48:2051-4
  • Van Moorsel CH, van Wijngaraarden EE, Fokkema IF, beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays. Eur J Hum Genet 2004;12:567-73
  • Lu Y, Kham SK, Tan PL, Arrayed primer extension: a robust and reliable genotyping platform for the diagnosis of single gene disorders: beta-thalassemia and thiopurine methyltransferase deficiency. Genet Test 2005;9:212-9
  • Cremonesi L, Ferrari M, Giordano PC, An overview of current microarray-based human globin gene mutation detection methods. Hemoglobin 2007;31 (3):289-311
  • Newton CR, Graham A, Heptinstall LE. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-16
  • Old JM, Varawalla NY, Weatherall DJ. The rapid detection and prenatal diagnosis of beta thalassaemia in the Asian Indian and Cypriot populations in the UK. Lancet 1990;336:834-7
  • Old JM, Khan SN, Verma I, A multi-centre study to further define the molecular basis of beta-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 2001;25:397-407
  • Saxena R, Jain PK, Thomas E, Verma IC. Prenatal diagnosis of beta-thalassaemia: experience in a developing country. Prenat Diagn 1998;18:1-7
  • Baig SM. Molecular diagnosis of beta-thalassemia by multiplex ARMS-PCR: a cost effective method for developing countries like Pakistan. Prenat Diagn 2007;27:580-1
  • Tan JA, Tay JS, Lin LI, The amplification refractory mutation system (ARMS): a rapid and direct prenatal diagnostic technique for beta-thalassaemia in Singapore. Prenat Diagn 1994;14:1077-82
  • Zschocke J, Graham CA. A fluorescent multiplex ARMS method for rapid mutation analysis. Mol Cell Probes 1995;9:447-51
  • Chehab FF, Kan YW. Detection of specific DNA sequence by fluorescence amplification: a colour complementation assay. Proc Natl Acad Sci USA 1989;86:9178
  • Chang JG, Lu JM, Huang JM, Rapid diagnosis of beta-thalassaemia by mutagenically separated polymerase chain reaction (MS-PCR) and its application to prenatal diagnosis. Br J Haematol 1995;91:602-7
  • Linderman R, Hu SP, Volpato F, Trent RJ. Polymerase chain reaction (PCR) mutagenesis enabling rapid non-radioactive detection of common beta-thalassaemia mutations in Mediterraneans. Br J Haematol 1991;78:100-4
  • Webster MT, Wells RS, Clegg JB. Analysis of variation in the human beta-globin gene cluster using a novel DHPLC technique. Mutat Res 2002;501:99-103
  • Yip SP, Pun SF, Leung KH, Lee SY. Rapid, simultaneous genotyping of five common Southeast Asian beta-thalassemia mutations by multiplex minisequencing and denaturing HPLC. Clin Chem 2003;49:1656-9
  • Su YN, Lee CN, Hung CC, Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. Hum Mutat 2003;22:326-36
  • Wu G, Hua L, Zhu J, Rapid, accurate genotyping of beta-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay. Br J Haematol 2003;122:311-6
  • Bournazos SN, Tserga A, Patrinos GP, Papadakis MN. A versatile denaturing HPLC approach for human beta-globin gene mutation screening. Am J Hematol 2007;82:168-70
  • Vrettou C, Traegaer-Synodinos J, Tzetis M, Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat 2004;23:513-21
  • Naja RP, Kaspar H, Shabakio H, Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean beta-thalassemia mutations. Am J Hematol 2004;75:220-4
  • Pang L, Li J, Jiang J, DNA point mutation detection based on DNA ligase reaction and nano-Au amplification: a piezoelectric approach. Anal Biochem 2006;358:99-103
  • Wang W, Kham SKY, Yeo G-H, Multiplex minisequencing screen for common Southeast Asian and Indian beta-thalassemia. Clin Chem 2003;49:209-18
  • Gallienne AE, Dréau HM, McCarthy J, Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. Hemoglobin 2009;33(6):406-16
  • Losekoot M, Fodde R, Harteveld CL, Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia. Br J Haematol 1991;76:269-74
  • Gorakshaker AC, Lulla CP, Nadkarni AH, Prenatal diagnosis of beta-thalassemia using denaturing gradient gel electrophoresis among Indians. Hemoglobin 1997;21:421-35
  • Gottardi E, Losekoot M, Fodde R, Rapid identification of denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH. Br J Haematol 1992;80:533-8
  • Papadakis M, Papapanagiotou E, Loutradi-Anagnostou A. Scanning methods to identify the molecular heterogeneity of δ-globin gene especially in δ-thalassemias: detection of three novel substitutions in the promoter region of the gene. Hum Mutat 1997;9:465-72
  • Savage DA, Wood NAP, Bidwell JL, Detection of beta-thalassaemia mutations using DNA heteroduplex generator molecules. Br J Haematol 1995;90:564-71
  • Old JM, Khan SH, Verma I, A multi-center study in order to further define the molecular basis of beta-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 2001;25:397-407
  • Kazazian HH Jr, Boehm CD. Molecular basis and prenatal diagnosis of beta-thalassaemia. Blood 1988;72:1107-16
  • Antonarakis SE, Boehm CD, Diardina PJV, Kazazian HHJ. Non-random association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci USA 1982;79:137-41
  • Chakravarti A, Buetow KH, Antonarakis SE, Non-uniform recombination within the human beta-globin gene cluster. Am J Hum Genet 1984;36:1239-58
  • Varawalla NY, Fitches AC, Old JM. Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassaemia on the Indian subcontinent. Hum Genet 1992;90:443-9
  • Craig JE, Barnetson RA, Prior J, Rapid detection of deletions causing δbeta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 1994;83:1673-82
  • Lee ST, Yoo EH, Kim JY, Multiplex ligation-dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the beta-globin gene cluster. Br J Haematol 2010;148:154-60
  • Old JM. Prenatal diagnosis of the haemoglobinopathies. In: Milunsky A, editor, Genetic disorders and the fetus. 5th edition. The John Hopkins University Press, Baltimore; 2004. p. 663
  • Abraham R, Thomas M, Britt R, Hb Q-India; an uncommon variant diagnosed in three Punjabi patients with diabetes is identified by a novel DNA analysis test. J Clin Pathol 2003;56:296-9
  • Smetanina NS, Molchanova TP, Huisman THJ. Analysis of mRNA from red cells of patients with thalssemia and hemoglobin variants. Hemoglobin 1997;21:437-67
  • Harteveld CL, Kleanthous M, Traeger-Synodinos J. Prenatal diagnosis of hemoglobin disorders: Present and future strategies. Clin Biochem 2009;42:1767-79
  • Jurkovic D, Jauniaux E, Campbell S, Detection of sickle gene by coelocentesis in early pregnancy: a new approach to prenatal diagnosis of single gene disorders. Mol Hum Reprod 1995;1:123-5
  • Old JM. Best practice recommendations. In: Prevention of thalassaemias and other haemoglobin disorders. Volume 2. Thalassaemia International Federation, Nicosia, Cyprus; 2005. p. 1-16
  • Akhlaghpoor S. Chorionic villus sampling for beta-thalassemia: the first report of experience in Iran. Prenat Diagn 2006;26:1131-6
  • Kanavakis E, Traeger-Synodinos J. Preimplantation genetic diagnosis in clinical practice. J Med Genet 2002;39:6-11
  • Chan V, Ng EH, Yam I, Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia. Prenat Diagn 2006;26:1029-36
  • Deng J, Peng WL, Li J, Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China. Prenat Diagn 2006;26:1021-8
  • Monni G, Cau G, Usai V, Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience. Prenat Diagn 2004;24:949-54
  • Kuliev A, Rechitsky S, Verlinsky O, Preimplantation diagnosis and HLA typing for haemoglobin disorders. Reprod Biomed Online 2005;11:362-70
  • Alsulaiman A, Hewison J. Attitudes to prenatal and preimplantation diagnosis in Saudi parents at genetic risk. Prenat Diagn 2006;26:1010-4
  • Vrettou C, Traegaer-Synodinos J, Tzetis M, Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat 2004;23:513-21
  • Camaschella C, Alfarano A, Gottardi E, Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood. Blood 1990;75:2102-6
  • Cheung M-C, Goldberg JD, Kan YW. Prenatal diagnosis of sickle cell anemia and thalassemia by analysis of fetal cells in maternal blood. Nat Genet 1996;14:264-8
  • Lau ET, Kwok YK, Chui DHK, Embryonic and foetal globins are expressed in adult erythroid progenitor cells and in erythroid cell cultures. Prenat Diagn 2001;21:529-39
  • Lau ET, Kwok YK, Luo HY, Simple non-invasive prenatal detection of Hb Bart's disease by analysis of fetal erythrocytes in maternal blood. Prenat Diagn 2005;25:123-8
  • D'Souza E, Sawant PM, Nadkarni AH, Evaluation of the use of monoclonal antibodies and nested PCR for noninvasive prenatal diagnosis of hemoglobinopathies in India. Am J Clin Pathol 2008;130:202-9
  • Kolialexi A, Vrettou C, Traeger-Synodinos J, Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment. Prenat Diagn 2007;27:1228-332
  • Lo YM, Corbetta N, Chamberlain PF, Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350(9076):485-7
  • Li Y, Holzgreve W, Hahn S. Size fractionation of cell-free DNA in maternal plasma and its application in noninvasive detection of fetal single gene point mutations. Methods Mol Biol 2008;444:239-51
  • Tungwiwat W, Fucharoen S, Fucharoen G, Development and application of a real-time quantitative PCR for prenatal detection of fetal alpha(0)-thalassemia from maternal plasma. Ann NY Acad Sci 2006;1075:103-7
  • Papasavva T, Kalikas I, Kyrri A, Kleathous M. Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms. Ann NY Acad Sci 2008;1137:302-8
  • Li Y, Finning K, Daniels G, Noninvasive genotyping fetal Kell blood group (KEL1) using cell-free fetal DNA in maternal plasma by MALDI-TOF mass spectrometry. Prenat Diagn 2008;28:203-8
  • Galbiati S, Foglieni B, Travi M, Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia. Haematologica 2008;93:610-4
  • Hahn S, Chitty LS. Noninvasive prenatal diagnosis: current practice and future perspectives. Curr Opin Obstet Gynecol 2008;20:146-51
  • Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, New strategy for the prenatal detection/exclusión of paternal cystic fibrosis mutations in maternal plasma. J Cyst Fibros 2008;7:505-10
  • Chui RW, Lau TK, Leung TN, Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002;360:998-1000
  • Li Y, Di Naro E, Vitucci A, Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005;293:843-9
  • Chim SS, Tong YK, Chiu RW, Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci USA 2005;102:14753-8
  • Tong YK, Ding C, Chiu RW, Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations. Clin Chem 2006;52:2194-202
  • Lo YMD, Tein MS, Lau TK, Quantitative analysis of fetal DNA in maternal plasma and serum: implications for non-invasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75
  • Lo YMD, Lun FMF, Chan KCA, Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 2007;104:13116-21
  • Lun FMF, Chiu RWK, Chan KCA, Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54 (10):1-9
  • Diamandis EP. Next-generation sequencing: a new revolution in molecular diagnostics? Clin Chem 2009;55:2088-92
  • Khalil MSM, Molyneux AT, Marouf S, The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position. Saudi Med J 2009;30:1158-1164
  • Cotton F, Malaviolle X, Vertongen F, Gulbis B. Evaluation of an automated capillary electrophoresis system in the screening for haemoglobinopathies. Clin Lab 2009;55:217-21
  • Wajcman H, Riou J. Globin chain analysis: an impotant tool in phenotype study of haemoglobin disorders. Clin Biochem 2009;42:1802-6

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.