2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia
| Format: | General Document |
|---|
| _version_ | 1860798007900897280 |
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| building | INTELEK Repository |
| collection | Online Access |
| collectionurl | https://intelek.unisza.edu.my/intelek/pages/search.php?search=!collection3 |
| copyright | Copyright©PWB2025 |
| country | Malaysia |
| date | 2022-08-09 |
| format | General Document |
| id | 15405 |
| institution | UniSZA |
| internalnotes | Sila masukkan subject wajib Dissertations, Academic. Terima kasih... |
| originalfilename | DEVELOPMENT OF CLINICAL AND MUTATION DATABASE OF BETA THALASSAEMIA IN MALAYSIA AND SOUTHEAST ASIA (MASTER_2022).pdf |
| person | Abdul Halim Fikri Bin Hashim |
| recordtype | oai_dc |
| resourceurl | https://intelek.unisza.edu.my/intelek/pages/view.php?ref=15405 |
| sourcemedia | Server storage Scanned document |
| spelling | 15405 https://intelek.unisza.edu.my/intelek/pages/view.php?ref=15405 https://intelek.unisza.edu.my/intelek/pages/search.php?search=!collection3 General Document Malaysia Library Staff (Top Management) Library Staff (Management) Library Staff (Support) Terengganu Faculty of Medicine English application/pdf 1.5 Server storage Scanned document Universiti Sultan Zainal Abidin UniSZA Private Access Universiti Sultan Zainal Abidin SAMBox 2.3.4; modified using iTextSharp™ 5.5.10 ©2000-2016 iText Group NV (AGPL-version) 172 DEVELOPMENT OF CLINICAL AND MUTATION DATABASE OF BETA THALASSAEMIA IN MALAYSIA AND SOUTHEAST ASIA (MASTER_2022).pdf 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia Abdul Halim Fikri Bin Hashim Copyright©PWB2025 2022-08-09 Beta Thalassaemia—Research Clinical Database Mutation Database Medical Informatics Beta thalassaemia is one of the most common genetic diseases in Southeast Asia (SEA) population especially in low and middle income countries (LMIC). The lack of awareness on documentation the genetic variations and capacity knowledge to develop the genotype and phenotype database among LMIC has caused to lack facilities in combating the thalassaemia disease. Therefore, a systematic collection and curation of mutation is necessary to assist the clinical diagnosis and to determine prognosis of the disease. This study was conducted to develop an interface database that complements the existing databases for clinician and researchers to improve prognosis and diagnosis of beta thalassaemia in Malaysia and Southeast Asia. This study was a cross sectional study that used the Leiden Open Variation Database (LOVD) software to create and construct the database. The data was obtained by searching the literature from various databases, including PubMed and Scopus. The keywords used in searching included were "beta thalassaemia mutations", "clinical severity" and "SEA country names". The clinical parameters of beta thalassaemia disease severity were collected based on the severity scoring system. In this study, a comparison of seven content the Locus Specific Database (LSDB) from the Human Genome Variation Society website and Leiden Open Variation Database website were performed to determine the best application for clinical use. The database currently contains 173 mutations from the HBB Gene, drawn from 50 vital analyses in Southeast Asian population. There were 11 common mutations in SEA that was found in this study which were CD26 (G>A), IVS I-5 (G>C), CD35 ( C), IVS II-654 (C>T), CD 41/42, -28(A>G), CD17 (A>T), CD71/72 (+A), IVS1-1 (G>T), Filipino deletion and -87(C>A). This database also includes clinical parameters such as the disease severity, age at thalassaemia presentation, age at receiving first blood transfusion, growth and development, haemoglobin level (g/l), number of requirements for blood transfusion and size of spleen (cm). This database was connected with various resources like HUGO Gene Nomenclature Committee (HGNC), National Center for Biotechnology Information (NCBI), European Biotechnology Institute (EBI) and Mutalyzer in order to maintain a high quality of data stored in this database. In this study, ITHANET was found as the best application in clinical use based on comparison of seven thalassaemia databases. This study has successfully developed an interface database that will be useful not only for researchers in South-east Asia but also for those in countries with similar ethnic background. Ultimately, it will be an essential compliment to improve research in genetic diseases, development of diagnostic tools and therapeutic optimization in the future. Dissertations, Academic Sila masukkan subject wajib Dissertations, Academic. Terima kasih... Thesis |
| spellingShingle | 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia |
| state | Terengganu |
| subject | Beta Thalassaemia—Research Dissertations, Academic |
| summary | Beta thalassaemia is one of the most common genetic diseases in Southeast Asia (SEA) population especially in low and middle income countries (LMIC). The lack of awareness on documentation the genetic variations and capacity knowledge to develop the genotype and phenotype database among LMIC has caused to lack facilities in combating the thalassaemia disease. Therefore, a systematic collection and curation of mutation is necessary to assist the clinical diagnosis and to determine prognosis of the disease. This study was conducted to develop an interface database that complements the existing databases for clinician and researchers to improve prognosis and diagnosis of beta thalassaemia in Malaysia and Southeast Asia. This study was a cross sectional study that used the Leiden Open Variation Database (LOVD) software to create and construct the database. The data was obtained by searching the literature from various databases, including PubMed and Scopus. The keywords used in searching included were "beta thalassaemia mutations", "clinical severity" and "SEA country names". The clinical parameters of beta thalassaemia disease severity were collected based on the severity scoring system. In this study, a comparison of seven content the Locus Specific Database (LSDB) from the Human Genome Variation Society website and Leiden Open Variation Database website were performed to determine the best application for clinical use. The database currently contains 173 mutations from the HBB Gene, drawn from 50 vital analyses in Southeast Asian population. There were 11 common mutations in SEA that was found in this study which were CD26 (G>A), IVS I-5 (G>C), CD35 ( C), IVS II-654 (C>T), CD 41/42, -28(A>G), CD17 (A>T), CD71/72 (+A), IVS1-1 (G>T), Filipino deletion and -87(C>A). This database also includes clinical parameters such as the disease severity, age at thalassaemia presentation, age at receiving first blood transfusion, growth and development, haemoglobin level (g/l), number of requirements for blood transfusion and size of spleen (cm). This database was connected with various resources like HUGO Gene Nomenclature Committee (HGNC), National Center for Biotechnology Information (NCBI), European Biotechnology Institute (EBI) and Mutalyzer in order to maintain a high quality of data stored in this database. In this study, ITHANET was found as the best application in clinical use based on comparison of seven thalassaemia databases. This study has successfully developed an interface database that will be useful not only for researchers in South-east Asia but also for those in countries with similar ethnic background. Ultimately, it will be an essential compliment to improve research in genetic diseases, development of diagnostic tools and therapeutic optimization in the future. |
| title | 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia |
| title_full | 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia |
| title_fullStr | 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia |
| title_full_unstemmed | 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia |
| title_short | 2022_Development Of Clinical And Mutation Database Of Beta Thalassaemia In Malaysia And Southeast Asia |
| title_sort | 2022_development of clinical and mutation database of beta thalassaemia in malaysia and southeast asia |