TY - GEN
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
N1 - Publisher Copyright:
© 2021 Author(s).
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
UR - http://www.scopus.com/inward/record.url?scp=85103484171&partnerID=8YFLogxK
U2 - 10.1063/5.0048857
DO - 10.1063/5.0048857
M3 - Conference contribution
AN - SCOPUS:85103484171
T3 - AIP Conference Proceedings
BT - 5th Biomedical Engineering''s Recent Progress in Biomaterials, Drugs Development, and Medical Devices
A2 - Lischer, Kenny
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 -