Compound heterozygotes and beta-thalassemia: Top-down mass spectrometry for detection of hemoglobinopathies

Proteomics

Volumn 14, Issue 10, 2014, Pages 1232-1238

  Edwards, Rebecca L ^a   Griffiths, Paul ^b   Bunch, Josephine ^a   Cooper, Helen J ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Biomedicine; Direct surface sampling; Dried blood spots (DBS); Hemoglobinopathies; LESA; Top down

Indexed keywords

HEMOGLOBIN E; HEMOGLOBIN F; HEMOGLOBIN VARIANT;

ARTICLE; BETA THALASSEMIA; DRIED BLOOD SPOT TESTING; HEMOGLOBIN SC DISEASE; HEMOGLOBIN SD DISEASE; HEMOGLOBINOPATHY; HETEROZYGOTE; HUMAN; LIQUID LIQUID EXTRACTION; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SICKLE CELL; SICKLE CELL TRAIT; SURFACE PROPERTY; TANDEM MASS SPECTROMETRY; AMINO ACID SEQUENCE; DIAGNOSTIC ERROR; GENETIC VARIABILITY; HUMAN CELL; MASS SPECTROMETER; MASS SPECTROMETRY; SCREENING TEST; THALASSEMIA MAJOR; BETA-THALASSEMIA; CHEMISTRY; MOLECULAR GENETICS; PROCEDURES;

AMINO ACID SEQUENCE; BETA-THALASSEMIA; DRIED BLOOD SPOT TESTING; FETAL HEMOGLOBIN; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; TANDEM MASS SPECTROMETRY;

EID: 84899892078     PISSN: 16159853     EISSN: 16159861     Source Type: Journal    
DOI: 10.1002/pmic.201300316     Document Type: Article

References (24)

1. Pollitt, R., Introducing new screens: Why are we all doing different things? J. Inherit. Metab. Dis. 2007, 30, 423-429.
2. Streetly, A., Latinovic, R., Henthorn, J., Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by ethnicity and area for 2005-07. J. Clin. Pathol. 2010, 63, 626-629.
3. Stuart, M. J., Nagel, R. L., Sickle-cell disease. The Lancet 2004, 364, 1343-1360.
4. Ashley-Koch, A., Yang, Q., Olney, R. S., Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am. J. Epidemiol. 2000, 151, 839-845.
5. Nagel, R. L., Fabry, M. E., Steinberg, M. H., The paradox of hemoglobin SC disease. Blood Rev. 2003, 17, 167-178.
6. Knox-Macaulay, H. H. M., Ahmed, M. M., Gravell, D., Al-Kindi, S. et al., Sickle cell-haemoglobin E (HbSE) compound heterozygosity: a clinical and haematological study. Int. J. Lab. Hematol. 2007, 29, 292-301.
7. Rees, D. C., Williams, T. N., Gladwin, M. T., Sickle-cell disease. The Lancet 2010, 376, 2018-2031.
8. Galanello, R., Origa, R., Beta thalassemia. Orphanet J. Rare Dis. 2010, 5, 11.
9. Fucharoen, S., Winichagoon, P., Wisedpanichkij, R., Sae-Ngow, B. et al., Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin. Chem. 1998, 44, 740-748.
10. Lee, A., Thomas, P., Cupidore, L., Serjeant, B. et al., Improved survival in homozygous sickle cell disease: lessons from a cohort study. BMJ 1995, 311, 1600-1602.
11. Quinn, C. T., Rogers, Z. R., Buchanan, G. R., Survival of children with sickle cell disease. Blood 2004, 103, 4023-4027.
12. Sickle Cell and Thalassaemia Handbook For Laboratories, NHS Sickle Cell and Thalassaemina Screening Programme 2009.
13. Almeida, A. M., Henthorn, J. S., Davies, S. C., Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region. Br. J. Haematol. 2001, 112, 32-35.
14. Ryan, K., Bain, B. J., Worthington, D., James, J. et al., Significant haemoglobinopathies: guidelines for screening and diagnosis. Br. J. Haematol. 2010, 149, 35-49.
15. Old, J. M., Screening and genetic diagnosis of haemoglobin disorders. Blood Rev. 2003, 17, 43-53.
16. Edwards, R. L., Creese, A. J., Baumert, M., Griffiths, P. et al., Hemoglobin variant analysis via direct surface sampling of dried blood spots coupled with high-resolution mass spectrometry. Anal. Chem. 2011, 83, 2265-2270.
17. Edwards, R., Griffiths, P., Bunch, J., Cooper, H., Top-down proteomics and direct surface sampling of neonatal dried blood spots: diagnosis of unknown hemoglobin variants. J. Am. Soc. Mass Spectrom. 2012, 23, 1921-1930.
18. Daniel, Y. A., Turner, C., Haynes, R. M., Hunt, B. J. et al., Rapid and specific detection of clinically significant haemoglobinopathies using electrospray mass spectrometry-mass spectrometry. Br. J. Haematol. 2005. 130, 635-643.
19. Boemer, F., Cornet, Y., Libioulle, C., Segers, K. et al., 3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry. Clin. Chim. Acta 2011, 412, 1476-1479.
20. Williams, J. P., Creese, A. J., Roper, D. R., Green, B. N. et al., Hot electron capture dissociation distinguishes leucine from isoleucine in a novel hemoglobin variant, Hb Askew, [beta]54(D5)Val->Ile. J. Am. Soc. Mass Spectrom. 2009, 20, 1707-1713.
21. Chace, D. H., Mass Spectrometry in the Clinical Laboratory. Chem. Rev. 2001, 101, 445-478.
22. Newborn blood spot screening in the UK- Polices and Standards, 2005. ISBN 0955013801.
23. Rees, D., Styles, L., Vichinsky, E., Clegg, J. et al., The hemoglobin E syndromes. Ann. N Y Acad. Sci. 1998, 850, 334-343.
24. 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 2005-7. J. Clin. Pathol. 2009, 62, 26-30.