PXD044775

PXD044775 is an original dataset announced via ProteomeXchange.

Title	Identification of a rare Asian Indian Deletion [Gγ(Aγδβ)0] Delta-Beta Thalassemia using High Resolution Mass Spectrometry
Description	Delta-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.
HostingRepository	PRIDE
AnnounceDate	2024-08-09
AnnouncementXML	Submission_2024-08-09_03:02:06.595.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Akhilesh Pandey
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2023-08-23 01:48:06	ID requested
⏵ 1	2024-08-09 03:02:07	announced

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]

submitter keyword: delta beta thalassemia,hemoglobinopathies, HPLC, globin, LC-MS/MS

Akhilesh Pandey
contact affiliation	Department of Laboratory Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA
contact email	pandey.akhilesh@mayo.edu
lab head
Akhilesh Pandey
contact affiliation	Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905
contact email	pandey.akhilesh@mayo.edu
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2024/08/PXD044775

PRIDE project URI

• PRIDE
  1. PXD044775
     1. Label: PRIDE project
     2. Name: Identification of a rare Asian Indian Deletion [Gγ(Aγδβ)0] Delta-Beta Thalassemia using High Resolution Mass Spectrometry