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Rapid and specific detection of clinically significant haemoglobinopathies using electrospray mass spectrometry-mass spectrometry.

Abstract：

:Increasing demand for population screening for the haemoglobinopathies gives rise to a requirement for high throughput systems, which allow for cost effective, rapid, sensitive and specific screening of clinically significant haemoglobins. We have developed a practical and efficient approach using tryptic digestion and electrospray triple quadrupole mass spectrometry-mass spectrometry (MSMS) in multiple reaction monitoring acquisition mode for the identification of the clinically important haemoglobin variants, S, C, DPunjab, OArab, and E. A total of 200 blood samples, comprising 52 haemoglobin AA, 57 AS (sickle cell trait), 44 AC (C trait), 16 SC (SC disease), 14 SS (sickle cell disease), 10 AE (E trait), 2 ADPunjab (DPunjab trait) and 1 each of AOArab (OArab trait), CC (C disease), DPunjabDPunjab (DPunjab disease), OArabOArab (OArab disease), and EE (E disease), have been analysed in parallel with existing phenotype and molecular methods. All haemoglobin variants were correctly identified by MSMS, with no false positives or false negatives. The system detects both heterozygotes and homozygotes and has potential applications in neonatal and antenatal screening.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Daniel YA,Turner C,Haynes RM,Hunt BJ,Dalton RN

doi

10.1111/j.1365-2141.2005.05646.x

subject

Has Abstract

pub_date

2005-08-01 00:00:00

pages

635-43

issue

4

eissn

0007-1048

issn

1365-2141

pii

BJH5646

journal_volume

130

pub_type

杂志文章

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