. 2022 Mar 31;12(4):552.

doi: 10.3390/jpm12040552.

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

Bin Hashim Halim-Fikri¹, Carsten W Lederer², Atif Amin Baig³, Siti Nor Assyuhada Mat-Ghani⁴, Sharifah-Nany Rahayu-Karmilla Syed-Hassan¹, Wardah Yusof¹, Diana Abdul Rashid⁵, Nurul Fatihah Azman⁵, Suthat Fucharoen⁶, Ramdan Panigoro⁷, Catherine Lynn T Silao^{8

9}, Vip Viprakasit¹⁰, Norunaluwar Jalil¹¹, Norafiza Mohd Yasin¹², Rosnah Bahar¹³, Veena Selvaratnam¹⁴, Norsarwany Mohamad⁵, Nik Norliza Nik Hassan⁴, Ezalia Esa¹², Amanda Krause¹⁵, Helen Robinson¹⁶, Julia Hasler¹⁷, Coralea Stephanou², Raja-Zahratul-Azma Raja-Sabudin¹⁸, Jacques Elion¹⁹, Ghada El-Kamah²⁰, Domenico Coviello²¹, Narazah Yusoff²², Zarina Abdul Latiff²³, Chris Arnold²⁴, John Burn²⁵, Petros Kountouris², Marina Kleanthous², Raj Ramesar²⁶, Bin Alwi Zilfalil²⁷, On Behalf Of The Global Globin Network Ggn

Affiliations

¹ Malaysian Node of the Human Variome Project Secretariat, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
² Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus.
³ Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu 20400, Terengganu, Malaysia.
⁴ School of Health Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
⁵ Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
⁶ Thalassemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakhom Pathom 73170, Thailand.
⁷ Department of Biomedical Sciences, Medical Genetics Research Centre, Faculty of Medicine, Universitas Padjadjaran, Bandung 40161, Indonesia.
⁸ Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila 1000, Philippines.
⁹ Department of Pediatrics, College of Medicine, University of the Philippines, Manila 1000, Philippines.
¹⁰ Department of Paediatrics & Thalassaemia Centre, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
¹¹ UKM Specialist Children's Hospital, Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000, Kuala Lumpur, Malaysia.
¹² 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 40170, Selangor Darul Ehsan, Malaysia.
¹³ Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
¹⁴ Hospital Ampang, Jalan Mewah Utara, Taman Pandan Mewah, Ampang Jaya 68000, Selangor, Malaysia.
¹⁵ Division of Human Genetics, National Health Laboratory Service (NHLS) and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Watkins Pitchford Building, NHLS Braamfontein, Cnr Hospital and De Korte St, Hillbrow, P.O. Box 1038, Johannesburg 2000, South Africa.
¹⁶ Nossal Institute for Global Health, MDDHS, University of Melbourne, Melbourne, VIC 3010, Australia.
¹⁷ Global Variome, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
¹⁸ Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000, Kuala Lumpur, Malaysia.
¹⁹ Medical School, Université Paris Diderot, 75018 Paris, France.
²⁰ Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
²¹ Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Largo Gerolamo Gaslini 5, 16147 Genova, Italy.
²² Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas 13200, Pulau Pinang, Malaysia.
²³ Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Cheras 56000, Kuala Lumpur, Malaysia.
²⁴ BioGrid Australia, Hodgson Associates, 4 Hodgson St., Kew, Melbourne, VIC 3101, Australia.
²⁵ Translational and Clinical Research Institute, International Centre for Life Times Square, Newcastle upon Tyne NE1 3BZ, UK.
²⁶ Department of Pathology, University of Cape Town City of Cape Town, Cape Town 7925, South Africa.
²⁷ Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.

PMID: 35455667
PMCID: PMC9032232
DOI: 10.3390/jpm12040552

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

Bin Hashim Halim-Fikri et al. J Pers Med. 2022.

. 2022 Mar 31;12(4):552.

doi: 10.3390/jpm12040552.

Authors

Affiliations

¹ Malaysian Node of the Human Variome Project Secretariat, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
² Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus.
³ Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu 20400, Terengganu, Malaysia.
⁴ School of Health Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
⁵ Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
⁶ Thalassemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakhom Pathom 73170, Thailand.
⁷ Department of Biomedical Sciences, Medical Genetics Research Centre, Faculty of Medicine, Universitas Padjadjaran, Bandung 40161, Indonesia.
⁸ Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila 1000, Philippines.
⁹ Department of Pediatrics, College of Medicine, University of the Philippines, Manila 1000, Philippines.
¹⁰ Department of Paediatrics & Thalassaemia Centre, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
¹¹ UKM Specialist Children's Hospital, Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000, Kuala Lumpur, Malaysia.
¹² 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 40170, Selangor Darul Ehsan, Malaysia.
¹³ Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.
¹⁴ Hospital Ampang, Jalan Mewah Utara, Taman Pandan Mewah, Ampang Jaya 68000, Selangor, Malaysia.
¹⁵ Division of Human Genetics, National Health Laboratory Service (NHLS) and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Watkins Pitchford Building, NHLS Braamfontein, Cnr Hospital and De Korte St, Hillbrow, P.O. Box 1038, Johannesburg 2000, South Africa.
¹⁶ Nossal Institute for Global Health, MDDHS, University of Melbourne, Melbourne, VIC 3010, Australia.
¹⁷ Global Variome, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
¹⁸ Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000, Kuala Lumpur, Malaysia.
¹⁹ Medical School, Université Paris Diderot, 75018 Paris, France.
²⁰ Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
²¹ Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Largo Gerolamo Gaslini 5, 16147 Genova, Italy.
²² Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas 13200, Pulau Pinang, Malaysia.
²³ Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Cheras 56000, Kuala Lumpur, Malaysia.
²⁴ BioGrid Australia, Hodgson Associates, 4 Hodgson St., Kew, Melbourne, VIC 3101, Australia.
²⁵ Translational and Clinical Research Institute, International Centre for Life Times Square, Newcastle upon Tyne NE1 3BZ, UK.
²⁶ Department of Pathology, University of Cape Town City of Cape Town, Cape Town 7925, South Africa.
²⁷ Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia.

PMID: 35455667
PMCID: PMC9032232
DOI: 10.3390/jpm12040552

Abstract

The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income countries. At present, there is no framework to evaluate the improvement of care, treatment, and prevention of thalassaemia and other haemoglobinopathies globally, despite thalassaemia being one of the most common monogenic diseases worldwide. Here, we propose a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention of haemoglobinopathies. We also apply this system to GGN countries as proof of principle. To this end, qualitative indicators were extracted from the IthaMaps database of the ITHANET portal, which allowed four groups of countries (A, B, C, and D) to be defined based on major qualitative indicators, supported by minor qualitative indicators for countries with limited resource settings and by the overall haemoglobinopathy carrier frequency for the target countries of immigration. The proposed rubrics and accumulative scores will help analyse the performance and improvement of care, treatment, and prevention of haemoglobinopathies in the GGN and beyond. Our proposed criteria complement future data collection from GGN countries to help monitor the quality of services for haemoglobinopathies, provide ongoing estimates for services and epidemiology in GGN countries, and note the contribution of the GGN to a local and global reduction of disease burden.

Keywords: Global Globin Network; Hemoglobinopathy VCEP; Human Variome Project; disease burden; epidemiology; haemoglobinopathy; low- and middle-income countries; prevention program; thalassaemia.

PubMed Disclaimer

Conflict of interest statement

John Burn is the Vice-Chair of QuantuMDx Ltd. The other authors declare no conflict of interest.

Figures

**Figure 2**
Distribution of the four GGN categories across countries of the GGN consortium.

See this image and copyright information in PMC

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Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

Affiliations

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

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