Advances in hemoglobinopathy detection and identification

Advances in Clinical Chemistry

Volumn 57, Issue , 2012, Pages 1-28

  Troxler, Heinz ^a   Kleinert, Peter ^a   Schmugge, Markus ^a   Speer, Oliver ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Hb variants; Hemoglobin; Hemoglobinopathies; Mass spectrometry; Thalassemias

Indexed keywords

EID: 84858816823     PISSN: 00652423     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-12-394384-2.00001-2     Document Type: Chapter

References (66)

1. Modell B., Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull. World Health Organ. 2008, 86(6):480-487.
2. Clegg J.B., Weatherall D.J. The Thalassaemia Syndromes 2001, Blackwell Scientific, Oxford, UK. fourth ed.
3. Clarke G.M., Higgins T.N. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clin. Chem. 2000, 46(8 Pt 2):1284-1290.
4. Weatherall D.J., Clegg J.B. Inherited haemoglobin disorders: an increasing global health problem. Bull. World Health Organ. 2001, 79(8):704-712.
5. Shimizu A., Nakanishi T., Miyazaki A. Detection and characterization of variant and modified structures of proteins in blood and tissues by mass spectrometry. Mass Spectrom. Rev. 2006, 25(5):686-712.
6. Daniel Y.A., Turner C., Haynes R.M., Hunt B.J., Dalton R.N. Rapid and specific detection of clinically significant haemoglobinopathies using electrospray mass spectrometry-mass spectrometry. Br. J. Haematol. 2005, 130(4):635-643.
7. Agasa B., Bosunga K., Opara A., Tshilumba K., Dupont E., Vertongen F., et al. Prevalence of sickle cell disease in a northeastern region of the Democratic Republic of Congo: what impact on transfusion policy?. Transfus. Med. 2010, 20(1):62-65.
8. Pauling L., Itano H.A., et al. Sickle cell anemia a molecular disease. Science 1949, 110(2865):543-548.
9. Hardison R.C., Chui D.H., Giardine B., Riemer C., Patrinos G.P., Anagnou N., et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum. Mutat. 2002, 19(3):225-233.
10. Globin Gene Server. (accessed September 2010). http://globin.cse.psu.edu.
11. El-Beshlawy A., Hamdy M., El Ghamrawy M. Fetal globin induction in beta-thalassemia. Hemoglobin 2009, 33(Suppl. 1):S197-S203.
12. Harteveld C.L., Higgs D.R. Alpha-thalassaemia. Orphanet J. Rare Dis. 2010, 5:13.
13. Rees D.C., Williams T.N., Gladwin M.T. Sickle-cell disease. Lancet 2010, 376(9757):2018-2031.
14. Hartwell S.K., Srisawang B., Kongtawelert P., Christian G.D., Grudpan K. Review on screening and analysis techniques for hemoglobin variants and thalassemia. Talanta 2005, 65(5):1149-1161.
15. Wild B.J., Bain B.J. Detection and quantitation of normal and variant haemoglobins: an analytical review. Ann. Clin. Biochem. 2004, 41(Pt 5):355-369.
16. Wajcman H., Prehu C., Bardakdjian-Michau J., Prome D., Riou J., Godart C., et al. Abnormal hemoglobins: laboratory methods. Hemoglobin 2001, 25(2):169-181.
17. Ou C.N., Rognerud C.L. Diagnosis of hemoglobinopathies: electrophoresis vs HPLC. Clin. Chim. Acta 2001, 313(1-2):187-194.
18. Zurbriggen K., Schmugge M., Schmid M., Durka S., Kleinert P., Kuster T., et al. Analysis of minor hemoglobins by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin. Chem. 2005, 51(6):989-996.
19. Wada Y., Hayashi A., Fujita T., Matsuo T., Katakuse I., Matsuda H. Structural analysis of human hemoglobin variants with field desorption mass spectrometry. Biochim. Biophys. Acta 1981, 667(2):233-241.
20. Fenn J.B., Mann M., Meng C.K., Wong S.F., Whitehouse C.M. Electrospray ionization for mass spectrometry of large biomolecules. Science 1989, 246(4926):64-71.
21. Futrell J.H., Miller C.D. Tandem mass spectrometer for study of ion-molecule reactions. Rev. Sci. Instrum. 1966, 37(11):1921-1925.
22. Karas M., Bachmann D., Hillenkamp F. Influence of the wavelength in high irradiance ultraviolet laser desorption mass spectrometry of organic molecules. Anal. Chem. 1985, 57(14):2935-2939.
23. Kleinert P., Schmid M., Zurbriggen K., Speer O., Schmugge M., Roschitzki B., et al. Mass spectrometry: a tool for enhanced detection of hemoglobin variants. Clin. Chem. 2008, 54(1):69-76.
24. Bateman R.H., Green B.N., Morris M. Electrospray ionization mass spectrometric analysis of the globin chains in hemoglobin heterozygotes can detect the variants HbC, D, and E. Clin. Chem. 2008, 54(7):1256-1257.
25. Daniel Y.A., Turner C., Haynes R.M., Hunt B.J., Dalton R.N. Quantification of hemoglobin A2 by tandem mass spectrometry. Clin. Chem. 2007, 53(8):1448-1454.
26. Roberts N.B., Green B.N., Morris M. Potential of electrospray mass spectrometry for quantifying glycohemoglobin. Clin. Chem. 1997, 43(5):771-778.
27. Peng J., Mandal R., Sawyer M., Li X.F. Characterization of intact hemoglobin and oxaliplatin interaction by nanoelectrospray ionization tandem mass spectrometry. Clin. Chem. 2005, 51(12):2274-2281.
28. Roschinger W., Olgemoller B., Fingerhut R., Liebl B., Roscher A.A. Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases. Eur. J. Pediatr. 2003, 162(Suppl. 1):S67-S76.
29. Kiernan U.A., Black J.A., Williams P., Nelson R.W. High-throughput analysis of hemoglobin from neonates using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin. Chem. 2002, 48(6 Pt 1):947-949.
30. Boemer F., Ketelslegers O., Minon J.M., Bours V., Schoos R. Newborn screening for sickle cell disease using tandem mass spectrometry. Clin. Chem. 2008, 54(12):2036-2041.
31. Rai D.K., Landin B., Alvelius G., Griffiths W.J. Electrospray tandem mass spectrometry of intact beta-chain hemoglobin variants. Anal. Chem. 2002, 74(9):2097-2102.
32. Chong S.S., Boehm C.D., Cutting G.R., Higgs D.R. Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia. Clin. Chem. 2000, 46(10):1692-1695.
33. Chong S.S., Boehm C.D., Higgs D.R., Cutting G.R. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000, 95(1):360-362.
34. Tan A.S., Quah T.C., Low P.S., Chong S.S. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 2001, 98(1):250-251.
35. de Mare A., Groeneger A.H., Schuurman S., van den Bergh F.A., Slomp J. A rapid single-tube multiplex polymerase chain reaction assay for the seven most prevalent alpha-thalassemia deletions and alphaalphaalpha(anti 3.7) alpha-globin gene triplication. Hemoglobin 2010, 34(2):184-190.
36. Puehringer H., Najmabadi H., Law H.Y., Krugluger W., Viprakasit V., Pissard S., et al. 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):605-610.
37. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002, 30(12):e57.
38. Huang C.H., Chang Y.Y., Chen C.H., Ko T.M. Molecular characterization of a beta-globin gene deletion of 1357 bp in a Taiwanese beta-thalassemia carrier. Hemoglobin 2008, 32(5):498-504.
39. Liu J.Z., Han H., Schouten J.P., Wang L.R., Fan X.P., Duarte H.B., et al. Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification. Hemoglobin 2008, 32(6):561-571.
40. Babashah S., Jamali S., Mahdian R., Nosaeid M.H., Karimipoor M., Alimohammadi R., et al. Detection of unknown deletions in beta-globin gene cluster using relative quantitative PCR methods. Eur. J. Haematol. 2009, 83(3):261-269.
41. Gallienne A.E., Dreau H.M., McCarthy J., Timbs A.T., Hampson J.M., Schuh A., et al. 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):406-416.
42. So C.C., So A.C., Chan A.Y., Tsang S.T., Ma E.S., Chan L.C. Detection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification. J. Clin. Pathol. 2009, 62(12):1107-1111.
43. Gallienne A.E., Iberson N.M., Dreau H.M., Jackson H., Bignell P.A., Old J.M., et al. Characterization of a novel deletion causing beta-thalassemia major in an Afghan family. Hemoglobin 2010, 34(1):110-114.
44. Lee S.T., Yoo E.H., Kim J.Y., Kim J.W., Ki C.S. 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(1):154-160.
45. Lou J.W., Li Q., Wei X.F., Huang J.W., Xu X.M. Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family. Hemoglobin 2010, 34(4):343-353.
46. Phylipsen M., Prior J.F., Lim E., Lingam N., Finlayson J., Arkesteijn S.G., et al. Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met->Lys]. Hemoglobin 2010, 34(2):123-126.
47. Phylipsen M., Prior J.F., Lim E., Lingam N., Vogelaar I.P., Giordano P.C., et al. Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification. Blood Cells Mol. Dis. 2010, 44(3):146-151.
48. Phylipsen M., Vogelaar I.P., Schaap R.A., Arkesteijn S.G., Boxma G.L., van Helden W.C., et al. A new alpha(0)-thalassemia deletion found in a Dutch family (-(AW)). Blood Cells Mol. Dis. 2010, 45(2):133-135.
49. Kozlowski P., Jasinska A.J., Kwiatkowski D.J. New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis 2008, 29(23):4627-4636.
50. Joly P., Lacan P., Labalme A., Bonhomme E., Sanlaville D., Francina A. A novel telomeric (approximately 285 kb) alpha-thalassemia deletion leading to a phenotypically unusual HbH disease. Haematologica 2010, 95(5):850-851.
51. Coe B.P., Ylstra B., Carvalho B., Meijer G.A., Macaulay C., Lam W.L. Resolving the resolution of array CGH. Genomics 2007, 89(5):647-653.
52. Kallioniemi A., Kallioniemi O.P., Sudar D., Rutovitz D., Gray J.W., Waldman F., et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992, 258(5083):818-821.
53. Pinkel D., Segraves R., Sudar D., Clark S., Poole I., Kowbel D., et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat. Genet. 1998, 20(2):207-211.
54. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., et al. Detection of large-scale variation in the human genome. Nat. Genet. 2004, 36(9):949-951.
55. Knight S.J., Regan R., Nicod A., Horsley S.W., Kearney L., Homfray T., et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999, 354(9191):1676-1681.
56. Foglieni B., Brisci A., San Biagio F., Di Pietro P., Petralia S., Conoci S., et al. Integrated PCR amplification and detection processes on a Lab-on-Chip platform: a new advanced solution for molecular diagnostics. Clin. Chem. Lab. Med. 2010, 48(3):329-336.
57. Cremonesi L., Ferrari M., Giordano P.C., Harteveld C.L., Kleanthous M., Papasavva T., et al. An overview of current microarray-based human globin gene mutation detection methods. Hemoglobin 2007, 31(3):289-311.
58. Sanger F., Air G.M., Barrell B.G., Brown N.L., Coulson A.R., Fiddes C.A., et al. Nucleotide sequence of bacteriophage phi X174 DNA. Nature 1977, 265(5596):687-695.
59. Sanger F., Nicklen S., Coulson A.R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 1977, 74(12):5463-5467.
60. Schuster S.C. Next-generation sequencing transforms today's biology. Nat. Methods 2008, 5(1):16-18.
61. Margulies M., Egholm M., Altman W.E., Attiya S., Bader J.S., Bemben L.A., et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005, 437(7057):376-380.
62. Mardis E.R. Next-generation DNA sequencing methods. Annu. Rev. Genomics Hum. Genet. 2008, 9:387-402.
63. Valouev A., Ichikawa J., Tonthat T., Stuart J., Ranade S., Peckham H., et al. A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res. 2008, 18(7):1051-1063.
64. Rees D.C., Rochette J., Schofield C., Green B., Morris M., Parker N.E., et al. A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp). Blood 1996, 88(1):341-348.
65. Brennan S.O. Fifty-eight years of hemoglobin analysis. Clin. Chem. 2008, 54(1):8-10.
66. Sankaran V.G., Menne T.F., Xu J., Akie T.E., Lettre G., Van Handel B., et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 2008, 322(5909):1839-1842.