@inproceedings{51a9156b79d34ecbb350af14333b37c6,
title = "Uncover molecular network between beta thalassemia and retinal abnormality through in silico study",
abstract = "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.",
keywords = "HBB, iron overload, PXE, retinopathy, Transfusion-dependent thalassemia",
author = "Sumantri, {Nur Imaniati} and Hendyco Pratama and Angga Davida and Mia Rizkinia",
note = "Publisher Copyright: {\textcopyright} 2021 Author(s).; 5th International Symposium of Biomedical Engineering, ISBE 2020 ; Conference date: 28-07-2020 Through 29-07-2020",
year = "2021",
month = mar,
day = "23",
doi = "10.1063/5.0048857",
language = "English",
series = "AIP Conference Proceedings",
publisher = "American Institute of Physics Inc.",
editor = "Kenny Lischer and Sugeng Supriadi and Rahman, {Siti Fauziyah} and Yudan Whulanza",
booktitle = "5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices",
address = "United States",
}