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Lookup NU author(s): Jamie Burn
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2024. Published by Oxford University Press.Thalassemia is one of the most prevalent monogenic disorders in low- and middle-income countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies (abnormal hemoglobins and/or thalassemia) worldwide, necessitating global methods and solutions for effective and optimal therapy. LMICs are disproportionately impacted by thalassemia, and due to disparities in genomics awareness and diagnostic resources, certain LMICs lag behind high-income countries (HICs). This spurred the establishment of the Global Globin Network (GGN) in 2015 at UNESCO, Paris, as a project-wide endeavor within the Human Variome Project (HVP). Primarily aimed at enhancing thalassemia clinical services, research, and genomic diagnostic capabilities with a focus on LMIC needs, GGN aims to foster data collection in a shared database by all affected nations, thus improving data sharing and thalassemia management. In this paper, we propose a minimum requirement for establishing a genomic database in thalassemia based on the HVP database guidelines. We suggest using an existing platform recommended by HVP, the Leiden Open Variation Database (LOVD) (https://www.lovd.nl/). Adoption of our proposed criteria will assist in improving or supplementing the existing databases, allowing for better-quality services for individuals with thalassemia. Database URL: https://www.lovd.nl/.
Author(s): Halim-Fikri H, Zulkipli NN, Alauddin H, Bento C, Lederer CW, Kountouris P, Kleanthous M, Hernaningsih Y, Thong M-K, Mahmood MH, Yasin NM, Esa E, Elion J, Coviello D, Raja-Sabudin R-Z-A, El-Kamah G, Burn J, Yusoff NM, Ramesar R, Zilfalil BA
Publication type: Review
Publication status: Published
Journal: Database
Year: 2024
Volume: 2024
Pages: epub ahead of print
Online publication date: 04/09/2024
Acceptance date: 02/08/2024
ISSN (electronic): 1758-0463
Publisher: Oxford University Press
URL: https://doi.org/10.1093/database/baae080
DOI: 10.1093/database/baae080
PubMed id: 39231257
