Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis.

Autor: Aziz, Nur Aisyah, Musa, Nurul Hidayah, Mathews, Melina, Rajenderan, Komalah Thevii, Abdul Hamid, Faidatul Syazlin, Hassan, Syahzuwan, Omar, Syahira Lazira, Wan Yusoff, Wan Nurul Afiqha Binti, Mohd Din, Melanie Ling Binti, Jamaludin, Nurul Amira Binti, Wan Taib, Wan Rohani, Esa, Ezalia, Mohd Yasin, Norafiza

Publikováno v: Human Genome Variation; 4/23/2024, Vol. 11 Issue 1, p1-4, 4p

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Global Globin Network and adopting genomic variant database requirements for thalassemia.

Autor: Halim-Fikri H; School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Jalan Raja Perempuan Zainab II, Kubang Kerian, Kelantan 16150, Malaysia., Zulkipli NN; School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Jalan Raja Perempuan Zainab II, Kubang Kerian, Kelantan 16150, Malaysia.; School of Biomedicine, Faculty of Health Sciences, Universiti Sultan Zainal Abidin, Gong Badak Campus, Kuala Nerus, Terengganu 21300, Malaysia., Alauddin H; Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Cheras, Kuala Lumpur 56000, Malaysia., Bento C; Department of Hematology, Hospital Pediátrico de Coimbra, Avenida Afonso Romão, Coimbra 3000-602, Portugal., Lederer CW; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Kountouris P; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Kleanthous M; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Hernaningsih Y; Department of Clinical Pathology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo Academic General Hospital, Surabaya, East Java 60132, Indonesia., Thong MK; Department of Paediatrics, Faculty of Medicine, Universiti Malaya, Lembah Pantai, Kuala Lumpur 50603, Malaysia., Mahmood MH; Department of Basic Medical Sciences, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Kota Samarahan, Sarawak 94300, Malaysia., Mohd Yasin N; 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., Esa E; 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., Elion J; Medical School, Université Paris Diderot, Paris 75018, France., Coviello D; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Largo Gerolamo Gaslini 5, Genova 16147, Italy., Raja-Sabudin RZ; Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Cheras, Kuala Lumpur 56000, Malaysia., El-Kamah G; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Burn J; Translational and Clinical Research Institute, Newcastle University, International Centre for Life, Times Square, Newcastle upon Tyne NE1 3BZ, United Kingdom., Mohd Yusoff N; Molecular Genetics Section, Clinical Diagnostic Laboratory, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Pulau Pinang 13200, Malaysia., Ramesar R; Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory 7925, South Africa., Zilfalil BA; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Jalan Raja Perempuan Zainab II, Kubang Kerian, Kelantan 16150, Malaysia.

Publikováno v: Database : the journal of biological databases and curation [Database (Oxford)] 2024 Sep 04; Vol. 2024.

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

Autor: Halim-Fikri BH; Malaysian Node of the Human Variome Project Secretariat, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Lederer CW; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Baig AA; Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu 20400, Terengganu, Malaysia., Mat-Ghani SNA; School of Health Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Syed-Hassan SR; Malaysian Node of the Human Variome Project Secretariat, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Yusof W; Malaysian Node of the Human Variome Project Secretariat, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Abdul Rashid D; Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Azman NF; Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Fucharoen S; Thalassemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakhom Pathom 73170, Thailand., Panigoro R; Department of Biomedical Sciences, Medical Genetics Research Centre, Faculty of Medicine, Universitas Padjadjaran, Bandung 40161, Indonesia., Silao CLT; Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila 1000, Philippines.; Department of Pediatrics, College of Medicine, University of the Philippines, Manila 1000, Philippines., Viprakasit V; Department of Paediatrics & Thalassaemia Centre, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand., Jalil N; UKM Specialist Children's Hospital, Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000, Kuala Lumpur, Malaysia., Mohd Yasin N; 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., Bahar R; Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Selvaratnam V; Hospital Ampang, Jalan Mewah Utara, Taman Pandan Mewah, Ampang Jaya 68000, Selangor, Malaysia., Mohamad N; Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Nik Hassan NN; School of Health Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., Esa E; 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., Krause A; 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., Robinson H; Nossal Institute for Global Health, MDDHS, University of Melbourne, Melbourne, VIC 3010, Australia., Hasler J; Global Variome, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Stephanou C; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Raja-Sabudin RZ; Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, Cheras 56000, Kuala Lumpur, Malaysia., Elion J; Medical School, Université Paris Diderot, 75018 Paris, France., El-Kamah G; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Coviello D; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Largo Gerolamo Gaslini 5, 16147 Genova, Italy., Yusoff N; Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas 13200, Pulau Pinang, Malaysia., Abdul Latiff Z; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Cheras 56000, Kuala Lumpur, Malaysia., Arnold C; BioGrid Australia, Hodgson Associates, 4 Hodgson St., Kew, Melbourne, VIC 3101, Australia., Burn J; Translational and Clinical Research Institute, International Centre for Life Times Square, Newcastle upon Tyne NE1 3BZ, UK., Kountouris P; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Kleanthous M; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Ayios Dometios, Nicosia 2371, Cyprus., Ramesar R; Department of Pathology, University of Cape Town City of Cape Town, Cape Town 7925, South Africa., Zilfalil BA; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kubang Kerian 16150, Kelantan, Malaysia., On Behalf Of The Global Globin Network Ggn

Publikováno v: Journal of personalized medicine [J Pers Med] 2022 Mar 31; Vol. 12 (4). Date of Electronic Publication: 2022 Mar 31.