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

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

doi:10.1063/5.0048857

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

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

Department of Electrical Engineering

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-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 language	English
Title of host publication	5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices
Subtitle of host publication	Proceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020
Editors	Kenny Lischer, Sugeng Supriadi, Siti Fauziyah Rahman, Yudan Whulanza
Publisher	American Institute of Physics Inc.
ISBN (Electronic)	9780735440869
DOIs	https://doi.org/10.1063/5.0048857
Publication status	Published - 23 Mar 2021
Event	5th International Symposium of Biomedical Engineering, ISBE 2020 - Depok, Virtual, Indonesia Duration: 28 Jul 2020 → 29 Jul 2020

Publication series

Name	AIP Conference Proceedings
Volume	2344
ISSN (Print)	0094-243X
ISSN (Electronic)	1551-7616

Conference

Conference	5th International Symposium of Biomedical Engineering, ISBE 2020
Country	Indonesia
City	Depok, Virtual
Period	28/07/20 → 29/07/20

Keywords

HBB
iron overload
PXE
retinopathy
Transfusion-dependent thalassemia

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10.1063/5.0048857

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Sumantri, N. I., Pratama, H., Davida, A., & Rizkinia, M. (2021). Uncover molecular network between beta thalassemia and retinal abnormality through in silico study. In K. Lischer, S. Supriadi, S. F. Rahman, & Y. Whulanza (Eds.), 5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices: Proceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020 [060002] (AIP Conference Proceedings; Vol. 2344). American Institute of Physics Inc.. https://doi.org/10.1063/5.0048857

Sumantri, Nur Imaniati ; Pratama, Hendyco ; Davida, Angga ; Rizkinia, Mia. / Uncover molecular network between beta thalassemia and retinal abnormality through in silico study. 5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices: Proceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020. editor / Kenny Lischer ; Sugeng Supriadi ; Siti Fauziyah Rahman ; Yudan Whulanza. American Institute of Physics Inc., 2021. (AIP Conference Proceedings).

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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",

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doi = "10.1063/5.0048857",

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Sumantri, NI, Pratama, H, Davida, A & Rizkinia, M 2021, Uncover molecular network between beta thalassemia and retinal abnormality through in silico study. in K Lischer, S Supriadi, SF Rahman & Y Whulanza (eds), 5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices: Proceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020., 060002, AIP Conference Proceedings, vol. 2344, American Institute of Physics Inc., 5th International Symposium of Biomedical Engineering, ISBE 2020, Depok, Virtual, Indonesia, 28/07/20. https://doi.org/10.1063/5.0048857

Uncover molecular network between beta thalassemia and retinal abnormality through in silico study. / Sumantri, Nur Imaniati; Pratama, Hendyco; Davida, Angga; Rizkinia, Mia.

5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices: Proceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020. ed. / Kenny Lischer; Sugeng Supriadi; Siti Fauziyah Rahman; Yudan Whulanza. American Institute of Physics Inc., 2021. 060002 (AIP Conference Proceedings; Vol. 2344).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

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T1 - Uncover molecular network between beta thalassemia and retinal abnormality through in silico study

AU - Sumantri, Nur Imaniati

AU - Pratama, Hendyco

AU - Davida, Angga

AU - Rizkinia, Mia

PY - 2021/3/23

Y1 - 2021/3/23

N2 - 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.

AB - 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.

KW - HBB

KW - iron overload

KW - PXE

KW - retinopathy

KW - Transfusion-dependent thalassemia

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A2 - Supriadi, Sugeng

A2 - Rahman, Siti Fauziyah

A2 - Whulanza, Yudan

PB - American Institute of Physics Inc.

T2 - 5th International Symposium of Biomedical Engineering, ISBE 2020

Y2 - 28 July 2020 through 29 July 2020

ER -

Sumantri NI, Pratama H, Davida A, Rizkinia M. Uncover molecular network between beta thalassemia and retinal abnormality through in silico study. In Lischer K, Supriadi S, Rahman SF, Whulanza Y, editors, 5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices: Proceedings of the 5th International Symposium of Biomedical Engineering, ISBE 2020. American Institute of Physics Inc. 2021. 060002. (AIP Conference Proceedings). https://doi.org/10.1063/5.0048857

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

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