Global Globin Network and adopting genomic variant database requirements for thalassemia-Reference-Cited by-同舟云学术

Global Globin Network and adopting genomic variant database requirements for thalassemia

Published:2024 Issue: Volume:2024 Page:
ISSN:1758-0463
Container-title:Database
language:en
Short-container-title:

Author:

Halim-Fikri Hashim¹,Zulkipli Ninie Nadia¹²,Alauddin Hafiza³,Bento Celeste⁴,Lederer Carsten W⁵,Kountouris Petros⁵,Kleanthous Marina⁵,Hernaningsih Yetti⁶,Thong Meow-Keong⁷,Mahmood Muhammad Hamdi⁸,Mohd Yasin Norafiza⁹,Esa Ezalia⁹,Elion Jacques¹⁰,Coviello Domenico¹¹,Raja-Sabudin Raja-Zahratul-Azma³,El-Kamah Ghada¹²,Burn John¹³,Mohd Yusoff Narazah¹⁴,Ramesar Raj¹⁵,Zilfalil Bin Alwi¹⁶^ORCID

Affiliation:

1. School of Medical Sciences, Universiti Sains Malaysia , Health Campus, Jalan Raja Perempuan Zainab II, Kubang Kerian, Kelantan 16150, Malaysia

2. School of Biomedicine, Faculty of Health Sciences, Universiti Sultan Zainal Abidin , Gong Badak Campus, Kuala Nerus, Terengganu 21300, Malaysia

3. Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia , Jalan Yaacob Latif, Bandar Tun Razak, Cheras, Kuala Lumpur 56000, Malaysia

4. Department of Hematology, Hospital Pediátrico de Coimbra , Avenida Afonso Romão, Coimbra 3000-602, Portugal

5. Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics , 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus

6. Department of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital , Surabaya, East Java 60132, Indonesia

7. Department of Paediatrics, Faculty of Medicine, Universiti Malaya , Lembah Pantai, Kuala Lumpur 50603, Malaysia

8. Department of Basic Medical Sciences, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak , Kota Samarahan, Sarawak 94300, Malaysia

9. Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health , No. 1, Jalan Setia Murni U13/52, Seksyen U13, Bandar Setia Alam, Shah Alam, Selangor Darul Ehsan 40170, Malaysia

10. Medical School, Université Paris Diderot , Paris 75018, France

11. Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini , Largo Gerolamo Gaslini 5, Genova 16147, Italy

12. Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , Cairo 12622, Egypt

13. Translational and Clinical Research Institute, Newcastle University, International Centre for Life, Times Square , Newcastle upon Tyne NE1 3BZ, United Kingdom

14. Molecular Genetics Section, Clinical Diagnostic Laboratory, Advanced Medical and Dental Institute, Universiti Sains Malaysia , Bertam, Kepala Batas, Pulau Pinang 13200, Malaysia

15. Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town , Observatory 7925, South Africa

16. Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia , Health Campus, Jalan Raja Perempuan Zainab II, Kubang Kerian, Kelantan 16150, Malaysia

Abstract

Abstract 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/

Funder

the International Collaboration Fund (IFC), Ministry of Science, Technology and Innovation (MOSTI), Malaysia

the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation

Ministry of International Trade and Industry (MITI), Malaysia

COST

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae080/59019654/baae080.pdf

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