Uncover molecular network between beta thalassemia and retinal abnormality through in silico study

Penulis: Sumantri, Nur Imaniati; Pratama, Hendyco; Davida, Angga; Rizkinia, Mia
Informasi
JurnalAIP Conference Proceedings
PenerbitAmerican Institute of Physics Inc.
Volume & EdisiVol. 2344
Halaman -
Tahun Publikasi2021
ISSN0094243X
ISBN978-073544086-9
Jenis SumberScopus
Sitasi
Scopus: 1
Google Scholar: 1
PubMed: 1
Abstrak
Beta thalassemia is a type of hemoglobinopathy with a mutation occurring in the beta-globin gene (HBB), mainly identified by a low hemoglobin level in the body. Beta thalassemia (BT) patients undergo blood transfusion regularly due to their ineffective erythropoiesis mechanism. This condition leads to iron overload that results in further complications, such as retinal abnormality. Pseudoxanthoma elasticum (PXE), one instance of retinopathy, is known to be co-occurring in beta-thalassemia patients. This study aims to predict molecular networks from HBB to retinopathy-related genes using a bioinformatics approach. We found that PXE is related to thalassemia through hematopoietic system disease, which involves several of our target genes, namely HBB, ABCC6, and HAMP. The protein-protein interactions showed a relationship between HBB, ABCC6, and other proteins. This study may help to discover new markers for BT-retinopathy complications for precision medicine requirements. © 2021 Author(s).
Dokumen & Tautan

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