Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Blood
DISEASE(S): Hemoglobinopathy
SUBMITTER: Akhilesh Pandey
LAB HEAD: Akhilesh Pandey
PROVIDER: PXD044775 | Pride | 2024-08-09
REPOSITORIES: Pride
Action | DRS | |||
---|---|---|---|---|
Anikha_DB_F_051623_R1.raw | Raw | |||
Anikha_DB_F_051623_R2.raw | Raw | |||
Anikha_DB_M_051623_R1.raw | Raw | |||
Anikha_DB_M_051623_R2.raw | Raw | |||
Anikha_DB_P_051623_R1.raw | Raw |
Items per page: 1 - 5 of 14 |
Proteomics 20240111 14
Thalassemias are a group of inherited monogenic disorders characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer. Delta-beta (δβ-) thalassemia has large deletions in the β globin gene cluster involving δ- and β-globin genes, leading to absent or reduced synthesis of both δ- and β-globin chains. Here, we used direct globin-chain analysis using tandem mass spectrometry for the diagnosis of δβ-thalassemia. Two cases from unrelated families w ...[more]