Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry
There is a growing demand for newborn sickle cell disease screening globally. Historically techniques have relied on the separation of intact haemoglobin tetramers using electrophoretic or liquid chromatography techniques. These techniques also identify haemoglobin variants of no clinical significan...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2018-11-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/4/4/35 |
| _version_ | 1819030164646920192 |
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| author | Yvonne Daniel Charles Turner |
| author_facet | Yvonne Daniel Charles Turner |
| author_sort | Yvonne Daniel |
| collection | DOAJ |
| description | There is a growing demand for newborn sickle cell disease screening globally. Historically techniques have relied on the separation of intact haemoglobin tetramers using electrophoretic or liquid chromatography techniques. These techniques also identify haemoglobin variants of no clinical significance. Specific electrospray ionization-mass spectrometry-mass spectrometry techniques to analyse targeted peptides formed after digestion of the haemoglobin with trypsin were reported in 2005. Since this time the method has been further developed and adopted in several European countries. It is estimated that more than one million babies have been screened with no false-negative cases reported. This review reports on the current use of the technique and reviews the related publications. |
| first_indexed | 2024-12-21T06:25:48Z |
| format | Article |
| id | doaj.art-79c919a2fe8f4ae2ba91aee1d9b0daac |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-12-21T06:25:48Z |
| publishDate | 2018-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-79c919a2fe8f4ae2ba91aee1d9b0daac2022-12-21T19:13:08ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2018-11-01443510.3390/ijns4040035ijns4040035Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass SpectrometryYvonne Daniel0Charles Turner1Viapath, Guy’s & St Thomas Hospital, London SE17EH, UKWellChild Laboratory, Evelina London Children’s Hospital, London SE17EH, UKThere is a growing demand for newborn sickle cell disease screening globally. Historically techniques have relied on the separation of intact haemoglobin tetramers using electrophoretic or liquid chromatography techniques. These techniques also identify haemoglobin variants of no clinical significance. Specific electrospray ionization-mass spectrometry-mass spectrometry techniques to analyse targeted peptides formed after digestion of the haemoglobin with trypsin were reported in 2005. Since this time the method has been further developed and adopted in several European countries. It is estimated that more than one million babies have been screened with no false-negative cases reported. This review reports on the current use of the technique and reviews the related publications.https://www.mdpi.com/2409-515X/4/4/35screeningsickle cell diseasenewbornmass spectrometry |
| spellingShingle | Yvonne Daniel Charles Turner Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry International Journal of Neonatal Screening screening sickle cell disease newborn mass spectrometry |
| title | Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry |
| title_full | Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry |
| title_fullStr | Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry |
| title_full_unstemmed | Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry |
| title_short | Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry |
| title_sort | newborn sickle cell disease screening using electrospray tandem mass spectrometry |
| topic | screening sickle cell disease newborn mass spectrometry |
| url | https://www.mdpi.com/2409-515X/4/4/35 |
| work_keys_str_mv | AT yvonnedaniel newbornsicklecelldiseasescreeningusingelectrospraytandemmassspectrometry AT charlesturner newbornsicklecelldiseasescreeningusingelectrospraytandemmassspectrometry |