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

Nur Imaniati Sumantri, Hendyco Pratama, Angga Davida, Mia Rizkinia

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

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.

Original languageEnglish
Title of host publication5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices
Subtitle of host publicationProceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020
EditorsKenny Lischer, Sugeng Supriadi, Siti Fauziyah Rahman, Yudan Whulanza
PublisherAmerican Institute of Physics Inc.
ISBN (Electronic)9780735440869
DOIs
Publication statusPublished - 23 Mar 2021
Event5th International Symposium of Biomedical Engineering, ISBE 2020 - Depok, Virtual, Indonesia
Duration: 28 Jul 202029 Jul 2020

Publication series

NameAIP Conference Proceedings
Volume2344
ISSN (Print)0094-243X
ISSN (Electronic)1551-7616

Conference

Conference5th International Symposium of Biomedical Engineering, ISBE 2020
CountryIndonesia
CityDepok, Virtual
Period28/07/2029/07/20

Keywords

  • HBB
  • iron overload
  • PXE
  • retinopathy
  • Transfusion-dependent thalassemia

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