Hemoglobin variant analysis of whole blood and dried blood spots by MS

Bioanalysis

Volumn 5, Issue 16, 2013, Pages 2043-2052

  Edwards, Rebecca L ^a   Martin, Nicholas J ^a   Cooper, Helen J ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLUTAMINE; HEMOGLOBIN A; HEMOGLOBIN A2; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN C; HEMOGLOBIN D; HEMOGLOBIN E; HEMOGLOBIN GAMMA CHAIN; HEMOGLOBIN S; HEMOGLOBIN VARIANT; LYSINE; VALINE;

ALPHA THALASSEMIA; AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ANALYTICAL EQUIPMENT; BETA THALASSEMIA; BLOOD ANALYSIS; BLOOD SAMPLING; CAPILLARY ELECTROPHORESIS; CATION EXCHANGE; COLLISIONALLY ACTIVATED DISSOCIATION; DRIED BLOOD SPOT TESTING; ELECTROSPRAY; ELECTROSPRAY MASS SPECTROMETRY; HEMOGLOBIN ANALYSIS; HEMOGLOBINOPATHY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH THROUGHPUT SCREENING; HUMAN; ISOELECTRIC FOCUSING; LIQUID LIQUID EXTRACTION; MASS SPECTROMETER; MASS SPECTROMETRY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NEWBORN SCREENING; PROTEIN STRUCTURE; REVIEW; SCREENING TEST; SICKLE CELL ANEMIA; TANDEM MASS SPECTROMETRY;

DRIED BLOOD SPOT TESTING; GENETIC VARIATION; HEMOGLOBINS; HUMANS; MASS SPECTROMETRY;

EID: 84882260588     PISSN: 17576180     EISSN: 17576199     Source Type: Journal    
DOI: 10.4155/bio.13.168     Document Type: Review

References (72)

1. Clarke GM, Higgins TN. Laboratory investigation of hemoglobinopathies and thalassemias: Review and update. Clin. Chem. 46(8), 1284-1290 (2000
2. Hoffbrand V, Moss P. Essential Haematology. Wiley-Blackwell, NJ, USA (2011
3. Edoh D, Antwi-Bosaiko C, Amuzu D. Fetal hemoglobin during infancy and in sickle cell adults. African Health Sci. 6(1), 51-54 (2006
4. Steinberg MH, Forget BG, Higgs DR, Weatherall DJ. Disorders of hemoglobin: Genetics, pathophysiology, and clinical management. J. R. Soc. Med. 94(11), 602-603 (2009
5. Giardine B, Van Baal S, Kaimakis P et al. HbVar database of human hemoglobin variants and thalassemia mutations (2007 update). Hum. Mut. 28(2), 206-206 (2007
6. Ingram V. Abnormal human haemoglobins. III the chemical difference between normal and sickle cell haemoglobins. Biochim. Biophys. Acta 36(2), 402-411 (1959
7. Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (Hb S) allele and sickle cell disease: A HuGE review. Am. J. Epidemiol. 151(9), 839-845 (2000
8. Platt OS, Brambilla DJ, Rosse WF et al. Mortality in sickle cell disease - life expectancy and risk factors for early death. New Eng. J. Med. 330(23), 1639-1644 (1994
9. Quinn CT, Rogers ZR, Buchanan GR. Survival of children with sickle cell disease. Blood 103(11), 4023-4027 (2004
10. Vichinsky E, Hurst D, Earles A, Kleman K, Lubin B. Newborn screening for sickle cell disease: Effect on mortality. Pediatrics 81(6), 749-755 (1988
11. Charache S, Conley CL, Waugh DF, Ugoretz RJ, Spurrell Jr. Pathogenesis of hemolytic anemia in homozygous hemoglobin C disease. J. Clin. Invest. 46(11), 1795-1811 (1967
12. Nagel RL, Fabry ME, Steinberg MH. The paradox of hemoglobin SC disease. Blood Reviews 17(3), 167-178 (2003
13. Mukherjee M, Surve R, Gangakhedkar R, Mohanty D, Colah R. Hemoglobin sickle D Punjab - a case report. Indian J. Hum. Genet. 11(3), 154-155 (2005
14. Vella F, Lehmann H. Hemoglobin D Punjab (D Los Angeles). J. Med. Genet. 11(4), 341-348 (1974
15. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet 376(9757), 2018-2031 (2010
16. Knox-Macaulay HHM, Ahmed MM, Gravell D, Al-Kindi S, Ganesh A. Sickle cell-hemoglobin E (HbSE) compound heterozygosity: A clinical and haematological study. Int. J. Lab. Hematol. 29(4), 292-301 (2007
17. Zanella-Cleon I, Préhu C, Joly P et al. Strategy for identification by MS of a new human hemoglobin variant with two mutations in cis in the b-globin chain: Hb S-clichy [b6 (A3) Glu Val; b8 (A5) Lys Thr]. Hemoglobin 33(3-4), 177-187 (2009
18. Spritz RA, Forget BG. The thalassemias: Molecular mechanisms of human genetic disease. A. J. Hum. Genet. 35(3), 333 (1983
19. Vichinsky E. Advances in the treatment of alpha-thalassemia. Blood Rev. 26(Suppl. 1), S31-S34 (2012
20. Galanello R, Origa R. Beta-thalassemia. Orph. J. Rare Dis. 5, 11 (2010
21. Olivieri NF, Nathan DG, Macmillan JH et al. Survival in medically treated patients with homozygous b-thalassemia. New Eng. J. Med. 331(9), 574-578 (1994
22. Streetly A, Latinovic R, Hall K, Henthorn J. Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: Screening results for 2005-2007. J. Clin. Pathol. 62(1), 26-30 (2009
23. Almeida AM, Henthorn JS, Davies SC. Neonatal screening for haemoglobinopathies: The results of a 10 year programme in an English Health Region. Br. J. Haematol. 112(1), 32-35 (2001
24. Ryan K, Bain BJ, Worthington D et al. Significant haemoglobinopathies: Guidelines for screening and diagnosis. Br. J. Haematol. 149(1), 35-49 (2010
25. Campbell M, Henthorn JS, Davies SC. Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. Clin. Chem. 45(7), 969-975 (1999
26. Ou C, Rognerud C. Rapid analysis of hemoglobin variants by cation-exchange HPLC. Clin. Chem. 39(5), 820-824 (1993
27. Szuberski J, Oliveira JL, Hoyer JD. A comprehensive analysis of hemoglobin variants by high-performance liquid chromatography (HPLC). Int. J. Lab. Hematol. 34(6), 594-604 (2012
28. Joutovsky A, Hadzi-Nesic J, Nardi MA. 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(10), 1736-1747 (2004
29. Lippi G, Carta M, Salvagno G et al. Separation of hemoglobin HbE and HbA2 by the fully automated, high-pressure liquid chromatography Tosoh HLC723 G7 analyzer. Int. J. Lab. Hematol. 30(5), 432-436 (2008
30. Hafiza A, Malisa YM, Khirotdin RA et al. HbA2 levels in normal, b-thalassaemia and hemoglobin E carriers by capillary electrophoresis. Malaysian J. Pathol. 34(2), 161-164 (2012
31. Borbely N, Phelan L, Szydlo R, Bain B. Capillary zone electrophoresis for haemoglobinopathy diagnosis. J. Clin. Pathol. 66(1), 29-39 (2013
32. NHS Sickle Cell and Thalassaemina Screening Programme, Sickle Cell and Thalassaemia Handbook For Laboratories (2009
33. Old JM. Screening and genetic diagnosis of hemoglobin disorders. Blood Rev. 17(1), 43-53 (2003
34. Beckey HD. Field desorption MS: A technique for the study of thermally unstable substances of low volatility. Int. J. Mass Spectrom. Ion Process. 2(6), 500-502 (1969
35. Fenn J, Mann M, Meng C, Wong S, Whitehouse C. Electrospray ionization for MS of large biomolecules. Science 246(4926), 64-71 (1989
36. Karas M, Bachmann D, Bahr U, Hillenkamp F. Matrix-assisted ultraviolet laser desorption of non-volatile compounds. Int. J. Mass Spectrom. Ion Process. 78(0), 53-68 (1987
37. Daniel YA, Turner C, Haynes RM, Hunt BJ, Dalton RN. Quantification of hemoglobin A2 by tandem MS. Clin. Chem. 53(8), 1448-1454 (2007
38. Wada Y, Hayashi A, Fujita T, Matsuo T, Katakuse I, Matsuda H. Structural analysis of human hemoglobin variants with field desorption MS. Biochim. Biophys. Acta 667(2), 233-241 (1981
39. Pulsinelli P, Perutz M, Nagel R. Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme. Proc. Natl Acad. USA 70(12), 3870-3874 (1973
40. Shackleton C, Falick A, Green B, Witkowska H. Electrospray MS in the clinical diagnosis of variant hemoglobins. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 562(1), 175-190 (1991
41. Falick AM, Shackleton CH, Green BN, Witkowska HE. Tandem MS in the clinical analysis of variant hemoglobins. Rapid Commun. Mass Spectrom. 4(10), 396-400 (1990
42. Aberth W, Straub KM, Burlingame A. Secondary ion MS with cesium ion primary beam and liquid target matrix for analysis of bioorganic compounds. Anal. Chem. 54(12), 2029-2034 (1982
43. Mclafferty F, Bryce T. Metastable-ion characteristics: Characterization of isomeric molecules. Chem. Comm. (Lon.) (23), 1215-1217 (1967
44. Jennings KR. Collision-induced decompositions of aromatic molecular ions. Int. J. Mass Spectrom. Ion Process. 1(3), 227-235 (1968
45. Roepstorff P, Fohlman J. Proposal for a common nomenclature for sequence ions in mass spectra of peptides. Biol. Mass Spectrom. 11, 601 (1984
46. Wild BJ, Green BN, Cooper EK et al. Rapid identification of hemoglobin variants by electrospray ionization MS. Blood Cells Mol. Dis. 27(3), 691-704 (2001
47. Rai DK, Griffiths WJ, Alvelius G, Landin B. Electrospray MS. An efficient method to detect silent hemoglobin variants causing erythrocytosis. Clin. Chem. 47(7), 1308-1311 (2001
48. Lacombe C, Riou J, Godard C, Rosa J, Galacteros F. Characterization approach of 'silent' beta-chain hemoglobin variants. Acta Haematol. 78(2-3), 119-122 (2009
49. Rai DK, Landin B, Griffiths WJ, Alvelius G, Green BN. Characterization of the elusive disulfide bridge forming human Hb variant: Hb Ta-Li b83 (EF7) GlyCysby electrospray MS. J. Am. Soc. MS 13(2), 187-191 (2002
50. Rai DK, Landin B, Griffiths WJ, Alvelius G. Identification of N-terminal acetylation in Hb Raleigh (b1ValAc-Ala) by electrospray tandem MS. Rapid Commun. Mass Spectrom. 16(18), 1793-1796 (2002
51. Rai DK, Griffiths WJ, Landin B, Wild BJ, Alvelius G, Green BN. Accurate mass measurement by electrospray ionization quadrupole MS: Detection of variants differing by <6 da from normal in human hemoglobin heterozygotes. Anal. Chem. 75(9), 1978-1982 (2003
52. Williams JP, Giles K, Green BN, Scrivens JH, Bateman RH. Ion mobility augments the utility of MS in the identification of human hemoglobin variants. Rapid Commun. Mass Spectrom. 22(20), 3179-3186 (2008
53. Shvartsburg AA, Smith RD. Fundamentals of traveling wave ion mobility spectrometry. Anal. Chem. 80(24), 9689-9699 (2008
54. Williams JP, Creese AJ, Roper DR, Green BN, Cooper HJ. Hot electron capture dissociation distinguishes leucine from isoleucine in a novel hemoglobin variant, Hb Askew, b54 (D5) ValIle. J. Am. Soc. MS 20(9), 1707-1713 (2009
55. Kjeldsen F, Haselmann KF, Sørensen ES, Zubarev RA. Distinguishing of Ile/Leu amino acid residues in the PP3 protein by (hot) electron capture dissociation in fourier transform ion cyclotron resonance ms. Anal. Chem. 75(6), 1267-1274 (2003
56. Wild BJ, Green BN, Stephens AD. The potential of electrospray ionization MS for the diagnosis of hemoglobin variants found in newborn screening. Blood Cells Mol. Dis. 33(3), 308-317 (2004
57. Daniel YA, Turner C, Haynes RM, Hunt BJ, Dalton RN. Rapid and specific detection of clinically significant haemoglobinopathies using electrospray MS-MS. Br. J. Haematol. 130(4), 635-643 (2005
58. Fucharoen S, Winichagoon P, Wisedpanichkij R et al. Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin. Chem. 44(4), 740-748 (1998
59. Winichagoon P, Svasti S, Munkongdee T et al. Rapid diagnosis of thalassemias and other hemoglobinopathies by capillary electrophoresis system. Transl. Res. 152(4), 178-184 (2008
60. Kunkel H, Ceppellini R, Müller-Eberhard U, Wolf J. Observations on the minor basic hemoglobin component in the blood of normal individuals and patients with thalassemia. J. Clin. Inves. 36(11), 1615 (1957
61. Boemer F, Ketelslegers O, Minon J-M, Bours V, Schoos R. Newborn screening for sickle disease using tandem MS. Clin. Chem. Acta 54(12), 2036-2041 (2008
62. Boemer F, Cornet Y, Libioulle C, Segers K, Bours V, Schoos R. 3 years experience review of neonatal screening for hemoglobin disorders using tandem MS. Clin. Chim. 412, 1476-1479 (2011
63. Graca DC, Lescuyer P, Clerici L et al. Electron transfer dissociation MS of hemoglobin on clinical samples. J. Am. Soc. Mass Spectrom. 23, 1750-1756 (2012
64. Syka JEP, Coon JJ, Schroeder MJ, Shabanowitz J, Hunt DF. Peptide and protein sequence analysis by electron transfer dissociation MS. Proc. Natl Acad. Sci. USA 101(26), 9528-9533 (2004
65. Hachani J, Duban-Deweer S, Pottiez G, Renom G, Flahaut C, Perini J-M. MALDI-ToF MS profiling as the first-tier screen for sickle cell disease in neonates: Matching throughput to objectives. Proteomics Clin. Appl. 5, 405-414 (2011
66. Edwards RL, Creese AJ, Baumert M, Griffiths P, Bunch J, Cooper HJ. Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution MS. Anal. Chem. 83(6), 2265-2270 (2011
67. Theberge R, Infusini G, Tong W, Mccomb ME, Costello CE. Top-down analysis of small plasma proteins using an LTQ-Orbitrap. Potential for MS-based clinical assays for transthyretin and hemoglobin. Int. J. Mass Spectrom. 300, 130-142 (2011
68. Edwards RL, Griffiths P, Bunch J, Cooper HJ. Top-down proteomics and direct surface sampling of neonatal dried blood spots: Diagnosis of unknown hemoglobin variants. J. Am. Soc. Mass Spectrom. 23, 1921-1930 (2012
69. Rahbar S. Hemoglobin D Iran. b22 Glutamic Acid Glutamine (B4). Br. J. Haematol. 24(1), 31-35 (1973
70. Vandenesch F, Baklouti F, Francina A et al. Hemoglobin J-Baltimore (b16 (A13) Gly Asp): Interference with the assay of HbA 1c. Clin. Chim. Acta 168(2), 121-128 (1987
71. Rochette J, Barnetson R, Kiger L et al. Association of a novel high oxygen affinity hemoglobin variant with db thalassaemia. Br. J. Haematol. 86(1), 118-124 (1994
72. Wajcman H, Préhu M, Préhu C, Blouquit Y, Promé D, Galactéros F. Hemoglobin Phnom Penh [a117Phe (H1)-Ile-a118Thr (H2)]; evidence for a hotspot for insertion of residues in the third exon of the a1-globin gene. Hum. Mut. 11(S1), S20-S22 (1998