Advances in technologies for screening and diagnosis of hemoglobinopathies

Biomarkers in Medicine

Volumn 8, Issue 1, 2014, Pages 119-131

  Traeger Synodinos, Jan ^a   Harteveld, Cornelis L ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

globin genes; hemoglobinopathies; high resolution melting analysis; HRMA; mass spectrometry; microarrays; MLPA; multiplex ligation dependant probe amplification; next generation sequencing; NGS; Sanger sequencing

Indexed keywords

DNA; GLOBIN; HEMOGLOBIN A; HEMOGLOBIN C; HEMOGLOBIN D; HEMOGLOBIN S;

BLOOD EXAMINATION; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE SEVERITY; DNA DETERMINATION; DNA MICROARRAY; DOT HYBRIDIZATION; ELECTROSPRAY MASS SPECTROMETRY; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HEMOGLOBINOPATHY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MASS SPECTROMETRY; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN SCREENING; POINT MUTATION; PRENATAL DIAGNOSIS; PREVALENCE; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SCREENING TEST; SICKLE CELL; SINGLE NUCLEOTIDE POLYMORPHISM; THALASSEMIA MAJOR;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; ELECTROPHORESIS; HEMOGLOBINOPATHIES; HEMOGLOBINS; HUMANS; MASS SPECTROMETRY; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA; THALASSEMIA;

EID: 84890761853     PISSN: 17520363     EISSN: 17520371     Source Type: Journal    
DOI: 10.2217/bmm.13.103     Document Type: Review

References (57)

1. Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb. Perspect. Med. 2(9), a011692 (2012
2. Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet 379(9813), 373-383 (2012
3. Henderson S, Timbs A, McCarthy J et al. Incidence of haemoglobinopathies in various populations-The impact of immigration. Clin. Biochem. 42(18), 1745-1756 (2009
4. Dong A, Rivella S, Breda L. Gene therapy for hemoglobinopathies: Progress and challenges. Transl. Res. 161(4), 293-306 (2013
5. Benson JM, Therrell BL Jr. History and current status of newborn screening for hemoglobinopathies. Semin. Perinatol. 34(2), 134-144 (2010
6. Michlitsch J, Azimi M, Hoppe C et al. Newborn screening for hemoglobinopathies in California. Pediatr. Blood Cancer 52(4), 486-490 (2009
7. Ryan K, Bain BJ, Worthington D et al. Significant haemoglobinopathies: Guidelines for screening and diagnosis. Br. J. Haematol. 149(1), 35-49 (2010
8. Old J, Harteveld CL, Traeger-Synodinos J et al. Prevention of thalassaemias and other haemoglobin disorders. In: Laboratory Protocols. II (2nd Edition). Thalassaemia International Federation, Nicosia, Cyprus, (2012
9. Higgs DR. The molecular basis of alpha-Thalassemia. Cold Spring Harb. Perspect. Med. 3(1), a011718 (2013
10. Traeger-Synodinos J, Kanavakis E, Vrettou C et al. The triplicated alpha-globin gene locus in beta-Thalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies. Br. J. Haematol. 95(3), 467-471 (1996
11. Premawardhena A, Fisher CA, Olivieri NF et al. A novel molecular basis for beta thalassemia intermedia poses new questions about its pathophysiology. Blood 106(9), 3251-3255 (2005
12. Harteveld CL, Refaldi C, Cassinerio E et al. Segmental duplications involving the alpha-globin gene cluster are causing beta-Thalassemia intermedia phenotypes in beta-Thalassemia heterozygous patients. Blood Cells Mol. Dis. 40(3), 312-316 (2008
13. Galanello R. Recent advances in the molecular understanding of non-Transfusion-dependent thalassemia. Blood Rev. 26(Suppl. 1), S7-S11 (2012
14. Buch AC, Karve PP, Panicker NK et al. Role of red cell distribution width in classifying microcytic hypochromic anaemia. J. Indian Med. Assoc. 109(5), 297-299 (2011
15. Labbé RF, Vreman HJ, Stevenson DK. Zinc protoporphyrin: A metabolite with a mission. Clin. Chem. 45(12), 2060-2072 (1999
16. Kohn J. Separation of haemoglobins on cellulose acetate. J. Clin. Pathol. 22(1), 109-111 (1969
17. Schneider RG. Electrophoretic methods in hemoglobin identifications. Hemoglobin 4(3-4), 521-526 (1980
18. Drysdale JW, Righetti P, Bunn HF. The separation of human and animal hemoglobins by isoelectric focusing in polyacrylamide gel. Biochim. Biophys. Acta 229(1), 42-50 (1971
19. Lorey F, Cunningham G, Shafer F et al. Universal screening for hemoglobinopathies using high-performance liquid chromatography: Clinical results of 2.2 million screens. Eur. J. Hum. Genet. 2(4), 262-271 (1994
20. Henderson SJ, Fishlock K, Horn ME et al. Neonatal screening for haemoglobin variants using filter paper-dried blood specimens. Clin. Lab. Haematol. 13(4), 327-334 (1991
21. Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand. J. Clin. Lab. Invest. 67(1), 71-86 (2007
22. van Delft P, Lenters E, Bakker-Verweij M et al. Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int. J. Lab. Hematol. 31(5), 484-495 (2009
23. Troxler H, Kleinert P, Schmugge M et al. Advances in hemoglobinopathy detection and identification. Adv. Clin. Chem. 57, 1-28 (2012
24. Hachani J, Duban-Deweer S, Pottiez G et al. MALDI-TOF MS profiling as the first-Tier screen for sickle cell disease in neonates: Matching throughput to objectives. Proteomics Clin. Appl. 5(7-8), 405-414 (2011
25. Kleinert P, Schmid M, Zurbriggen K et al. Mass spectrometry: A tool for enhanced detection of hemoglobin variants. Clin. Chem. 54(1), 69-76 (2008
26. Boemer F, Ketelslegers O, Minon JM et al. Newborn screening for sickle cell disease using tandem mass spectrometry. Clin. Chem. 54(12), 2036-2041 (2008
27. Edwards RL, Griffiths P, Bunch J et al. Top-down proteomics and direct surface sampling of neonatal dried blood spots: Diagnosis of unknown hemoglobin variants. J. Am. Soc. Mass Spectrom. 23(11), 1921-1930 (2012
28. Jinks DC, Minter M, Tarver DA et al. Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum. Genet. 81(4), 363-366 (1989
29. McCabe ER, Huang SZ, Seltzer WK et al. DNA microextraction from dried blood spots on filter paper blotters: Potential applications to newborn screening. Hum. Genet. 75(3), 213-216 (1987
30. Traeger-Synodinos J, Vrettou C, Kanavakis E. Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: Hemoglobinopathies. Expert Rev. Mol. Diagn. 11(3), 299-312 (2011
31. Harteveld CL, Kleanthous M, Traeger-Synodinos J. Prenatal diagnosis of hemoglobin disorders: Present and future strategies. Clin. Biochem. 42(18), 1767-1779 (2009
32. Harteveld CL. State of the art and new developments in molecular diagnostics for hemoglobinopathies in multi-ethnic societies. Int. J. Lab. Hematol. doi:10.1111/ijlh.12108 (2013) (Epub ahead of print
33. Haywood A, Dreau H, Timbs A et al. Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. Ann. Hematol. 89(12), 1215-1221 (2010
34. Timbs AT, Rugless MJ, Gallienne AE et al. Prenatal diagnosis of hemoglobinopathies by pyrosequencing: A more sensitive and rapid approach to fetal genotyping. Hemoglobin 36(2), 144-150 (2012
35. Harteveld CL, Voskamp A, Phylipsen M et al. 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. 42(12), 922-931 (2005
36. Phylipsen M, Prior JF, Lim E et al. Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification. Blood Cells Mol. Dis. 44(3), 146-151 (2010
37. Gallienne AE, Dreau HM, McCarthy J et al. Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. Hemoglobin 33(6), 406-416 (2009
38. Colosimo A, Gatta V, Guida V et al. Application of MLPA assay to characterize unsolved alpha-globin gene rearrangements. Blood Cells Mol. Dis. 46(2), 139-144 (2011
39. Wittwer CT. High-resolution DNA melting analysis: Advancements and limitations. Hum. Mutat. 30(6), 857-859 (2009
40. Shih HC, Er TK, Chang TJ et al. Rapid identification of HBB gene mutations by high-resolution melting analysis. Clin. Biochem. 42(16-17), 1667-1676 (2009
41. Pornprasert S, Phusua A, Suanta S et al. Detection of alpha-Thalassemia-1 southeast Asian type using real-Time Gap-PCR with SYBR Green1 and high resolution melting analysis. Eur. J. Haematol. 80(6), 510-514 (2008
42. Phylipsen M, Chaibunruang A, Vogelaar IP et al. Fine-Tiling array CGH to improve diagnostics for alpha-And beta-Thalassemia rearrangements. Hum. Mutat. 33(1), 272-280 (2011
43. Pissard S, Ceccaldi R, Faubert-Laugé E, Velayoudane V, Delattre V, Lecerf L. Analysis of rare deletional thalassemia using a custom CGH-Array DNA chip. Blood 116, 4278 (2010
44. Shalev H, Landau D, Pissard S et al. A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia. Eur. J. Haematol. 90(2), 127-133 (2013
45. Phylipsen M, Chaibunruang A, Vogelaar IP et al. Fine-Tiling array CGH to improve diagnostics for alpha-And beta-Thalassemia rearrangements. Hum. Mutat. 33(1), 272-280 (2012
46. Tritipsombut J, Phylipsen M, Viprakasit V et al. A single-Tube multiplex gap-polymerase chain reaction for the detection of eight beta-globin gene cluster deletions common in southeast Asia. Hemoglobin 36(6), 571-580 (2012
47. Norton N, Li D, Hershberger RE. Next-generation sequencing to identify genetic causes of cardiomyopathies. Curr. Opin. Cardiol. 27(3), 214-220 (2012
48. Sikkema-Raddatz B, Johansson LF, de Boer EN et al. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum. Mutat. 34(7), 1035-1042 (2013
49. Ratan A, Miller W, Guillory J et al. Comparison of sequencing platforms for single nucleotide variant calls in a human sample. PLoS ONE 8(2), e55089 (2013
50. Biesecker LG, Burke W, Kohane I et al. Next-generation sequencing in the clinic: Are we ready? Nat. Rev. Genet. 13(11), 818-824 (2012
51. Gargis AS, Kalman L, Berry MW et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat. Biotechnol. 30(11), 1033-1036 (2012
52. Hastings R, de Wert G, Fowler B et al. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur. J. Hum. Genet. 20(9), 911-916 (2012
53. Danjou F, Anni F, Perseu L et al. Genetic modifiers of beta-Thalassemia and clinical severity as assessed by age at first transfusion. Haematologica 97(7), 989-993 (2012
54. Badens C, Joly P, Agouti I et al. Variants in genetic modifiers of beta-Thalassemia can help to predict the major or intermedia type of the disease. Haematologica 96(11), 1712-1714 (2011
55. Flanagan JM, Frohlich DM, Howard TA et al. Genetic predictors for stroke in children with sickle cell anemia. Blood 117(24), 6681-6684 (2011
56. Tafrali C, Paizi A, Borg J et al. Genomic variation in the MAP3K5 gene is associated with beta-Thalassemia disease severity and hydroxyurea treatment efficacy. Pharmacogenomics 14(5), 469-483 (2013
57. Borg J, Phylactides M, Bartsakoulia M et al. KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in beta-hemoglobinopathy patients. Pharmacogenomics 13(13), 1487-1500 (2012