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Identification of a rare Asian Indian Deletion [Gγ(Aγδβ)0] Delta-Beta Thalassemia using High Resolution Mass Spectrometry

ABSTRACT: 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.

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

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Identification of a rare [Gγ(Aγδβ)0] -thalassemia using tandem mass spectrometry.

Bellad Anikha A Rangiah Kannan K Sathe Gajanan G Dey Gourav G Appadorai Pragalatha Kumar PK Lokanatha Hemalatha H Murthy Pradeep Rudra PR Gowdra Aruna A Pandey Akhilesh A

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]

PMID: 38212249

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