Whole exome sequencing and rare variant association study to identify genetic modifiers, <i>KLF1</i> mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia-Reference-Cited by-同舟云学术

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia

Published:2023-03-20 Issue:1 Volume:28 Page:
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Hantaweepant Chattree¹^ORCID,Suktitipat Bhoom²³,Pithukpakorn Manop⁴⁵,Chinthammitr Yingyong¹,Limwongse Chanin⁴,Tansiri Nawaporn⁶,Sawatnatee Surasak⁷,Takpradit Chayamon⁸,Rotchanapanya Wannaphorn⁹,Pongudom Saranya¹⁰,Charoenprasert Kanyaporn¹¹,Paiboonsukwong Kittiphong¹²,Thamprasert Wichuda¹³,Nolwachai Narumol¹⁴,Rattanasawat Wanlapa¹⁵,Sae-Aeng Busakorn¹⁶,Khorwanichakij Nisachon¹⁷,Saetow Putchong¹⁸,Saengboon Supawee¹⁹,Kamjornpreecha Krittichat²⁰,Pholmoo Wikanda²¹,Dujjawan Boonyanuch¹,Siritanaratkul Noppadol¹

Affiliation:

1. Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

2. Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

3. Integrative Computational BioScience (ICBS) Center, Mahidol University, Nakhon Pathom, Thailand

4. Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

5. Siriraj Genomics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

6. Division of Hematology, Department of Medicine, Uttaradit Hospital, Uttaradit, Thailand

7. Division of Hematology, Department of Medicine, Sunpasitthiprasong Hospital, Ubon Ratchathani, Thailand

8. Division of Hematology-Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

9. Division of Hematology, Department of Medicine, Chiangrai Prachanukroh Hospital, Chiangrai, Thailand

10. Division of Hematology, Department of Medicine, Udonthani Hospital, Udonthani, Thailand

11. Division of Hematology, Department of Medicine, Sisaket Hospital, Sisaket, Thailand

12. Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand

13. Division of Hematology, Department of Medicine, Nakhon Pathom Hospital, Nakhon Pathom, Thailand

14. Division of Hematology, Department of Medicine, Saraburi Hospital, Saraburi, Thailand

15. Division of Hematology, Department of Medicine, Charoenkrung Pracharak Hospital, Bangkok, Thailand

16. Division of Hematology, Department of Medicine, Banphaeo General Hospital, Samutsakhon, Thailand

17. Division of Hematology, Department of Medicine, Chaophra Yommarat Hospital, Suphanburi, Thailand

18. Division of Hematology, Department of Medicine, Faculty of Medicine, Lerdsin Hospital, Bangkok, Thailand

19. Division of Hematology, Department of Medicine, Faculty of Medicine, Thammasat University Hospital, Pathumthani, Thailand

20. Division of Hematology, Department of Medicine, Police General Hospital, Bangkok, Thailand

21. Division of Hematology, Department of Medicine, Pathumthani Hospital, Pathumthani, Thailand

Funder

National Human Genome Research Institute and the National Heart, Lung, and Blood Institute

Publisher

Informa UK Limited

Subject

Hematology,Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/16078454.2023.2187155

Reference45 articles.

1. 1 The population genetics of the haemoglobinopathies

2. Molecular Basis and Genetic Modifiers of Thalassemia

3. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15

4. Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A

5. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

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