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PXD044775

PXD044775 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleIdentification of a rare Asian Indian Deletion [Gγ(Aγδβ)0] Delta-Beta Thalassemia using High Resolution Mass Spectrometry
DescriptionDelta-Beta thalassemia is an unusual variant of thalassemia caused by large deletions in the β globin gene cluster involving δ- and β-globin genes. The mutations are characterized by high fetal hemoglobin with significant phenotypic diversity. Routinely used diagnostic tests targeting point mutations and small insertions, deletions of the β-globin gene are not suitable for detection of large deletion mutations. This is overcome by either direct globin chain synthesis analysis or beta-cluster gene analysis using different methods. In the current study, we use direct globin chain analysis to diagnose a family with δβ-thalassemia using high resolution mass spectrometry.
HostingRepositoryPRIDE
AnnounceDate2024-08-09
AnnouncementXMLSubmission_2024-08-09_03:02:06.595.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterAkhilesh Pandey
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListiodoacetamide derivatized residue
InstrumentOrbitrap Fusion
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-08-23 01:48:06ID requested
12024-08-09 03:02:07announced
Publication List
10.1002/pmic.202300495;
Bellad A, Rangiah K, Sathe G, Dey G, Appadorai PK, Lokanatha H, Murthy PR, Gowdra A, Pandey A, ] -thalassemia using tandem mass spectrometry. Proteomics, 24(14):e2300495(2024) [pubmed]
Keyword List
submitter keyword: delta beta thalassemia,hemoglobinopathies, HPLC, globin, LC-MS/MS
Contact List
Akhilesh Pandey
contact affiliationDepartment of Laboratory Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA
contact emailpandey.akhilesh@mayo.edu
lab head
Akhilesh Pandey
contact affiliationDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905
contact emailpandey.akhilesh@mayo.edu
dataset submitter
Full Dataset Link List
Dataset FTP location
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PRIDE project URI
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