Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: Implementation of a protocol to identify only the disease states of sickle cell disease

Clinical Chemistry

Volumn 60, Issue 2, 2014, Pages 373-380

  Moat, Stuart J ^a   Rees, Derek ^a   King, Lawrence ^a   Ifederu, Adeboye ^b   Harvey, Katie ^b   Hall, Kate ^c   Lloyd, Geoff ^a   Morrell, Christine ^d   Hillier, Sharon ^e  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d WELSH GOVERNMENT   (United Kingdom)

^e PUBLIC HEALTH WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HAPTOGLOBIN O; HEMOGLOBIN C; HEMOGLOBIN D; HEMOGLOBIN E; HEMOGLOBIN LEPORE; HEMOGLOBIN S; HEMOGLOBIN VARIANT; PEPTIDE; TRYPSIN; UNCLASSIFIED DRUG; PEPTIDE FRAGMENT;

ARTICLE; CLINICAL PROTOCOL; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; FALSE NEGATIVE RESULT; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PARALLEL DESIGN; SICKLE CELL ANEMIA; TANDEM MASS SPECTROMETRY; WILD TYPE; ANEMIA, SICKLE CELL; BLOOD; BLOOD SAMPLING; CHEMISTRY; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; ISOELECTRIC FOCUSING; ISOLATION AND PURIFICATION; PROCEDURES; SENSITIVITY AND SPECIFICITY; SICKLE CELL TRAIT;

ANEMIA, SICKLE CELL; BLOOD SPECIMEN COLLECTION; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GENETIC TESTING; GENETIC VARIATION; HEMOGLOBIN, SICKLE; HEMOGLOBINS, ABNORMAL; HUMANS; INFANT, NEWBORN; ISOELECTRIC FOCUSING; NEONATAL SCREENING; PEPTIDE FRAGMENTS; SENSITIVITY AND SPECIFICITY; SICKLE CELL TRAIT; TANDEM MASS SPECTROMETRY; TRYPSIN;

EID: 84893498666     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2013.210948     Document Type: Article

References (13)

1. National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Sickle cell and thalassaemia: handbook for laboratories, third edition, 2012. http://sct.screening.nhs.uk/getdata.php?id=10756 (Accessed May 2013).
2. NHS Sickle Cell and Thalassaemia Screening Programme. Data report 2011/12: trends and performance analysis. http://sct.screening.nhs.uk/datareport (Accessed May 2013).
3. Lin K, Barton M. Screening for hemoglobinopathies in newborns: reaffirmation update for the U. S. Preventive Services Task Force. Rockville (MD): AHRQ; 2007.
4. Oliver S, Dezateux C, Kavanagh J, Lempert T, Stewart R. Disclosing to parents newborn carrier status identified by routine blood spot screening. Cochrane Database Syst Rev 2004; (4): CD003859.
5. Daniel Y, Turner C, Haynes RM, Hunt BJ, Dalton RN. Rapid and specific detection of clinically significant haemoglobinopathies using electrospray mass spectrometry-mass spectrometry. Br J Haematol 2005;2130:635-43.
6. Wild BJ, Green BN, Cooper EK, Lalloz MR, Erten S, Stephens AD, Layton DM. Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry. Blood Cells Mol Dis 2001;27:691-704.
7. Daniel YA, Turner C, Farrar L, Dalton RN. A comparison of IEF and MSMS for clinical hemoglobinopathy screening in 40, 000 newborns. 50th American Society of Hematology annual meeting; 2008 Dec. 6-9; San Francisco, CA. http://ash. confex.com/ash/2008/webprogram/Paper9728.html (Accessed May 2013).
8. Boemer F, Ketelslegers O, Minon JM, Bours V, Schoos R. Newborn screening for sickle cell disease using tandem mass spectrometry. Clin Chem 2008;54:2036-41.
9. Boemer F, Cornet Y, Libioulle C, Segers K, Bours V, Schoos R. 3-years experience review of neonatal screening for haemoglobin disorders using tandem mass spectrometry. Clin Chim Acta 2011;412:1476-9.
10. The Human Genetics Commission. Making babies: reproductive decisions and genetic technologies, 2006. http://centronuclear.org.uk/theinformationpoint/ documents/research/articles/making-babies.pdf (Accessed August 2013).
11. SpOtOn Clinical Diagnostics. Protocol for haemoglobinopathy screening using mass spectrometry. http://spotoncd.com/spoton-protocol-for- haemoglobinopathy-screening.pdf (Accessed May 2013).
12. Daniel YA, Turner C, Haynes RM, Hunt BJ, Dalton RN. Quantification of hemoglobin A2 by tandem mass spectrometry. Clin Chem 2007;53:1448-54.
13. UK National Screening Committee (UK NSC). Note of the meeting held on March 20th 2013 and UK NSC March 2013 briefing. http://www.screening.nhs.uk/ meetings. (Accessed August 2013).