Scientific Letters
Vol. 17 No. 1 (2025): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Clinical spectrum and genotypes of children with alpha-thalassemia in northeastern, Thailand
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: April 7, 2025
Accepted: September 19, 2025
Accepted: September 19, 2025
220
Views
198
Downloads
Authors
Alpha-thalassemia is a common inherited hemoglobin disorder. Hemoglobin H (Hb H) disease, a form of alpha-thalassemia caused by the inactivation of three α-globin genes through deletional or non-deletional mutations, presents with a broad clinical spectrum, ranging from non-transfusion-dependent thalassemia (NTDT) to transfusion-dependent thalassemia (TDT).
Objective:To characterize the clinical manifestations and genetic diversity of alpha-thalassemia in pediatric patients.
Downloads
Download data is not yet available.
Citations
References
Vichinsky E. Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy. Ann NY Acad Sci 2010;1202:180-7.
Fucharoen S, Winichagoon P, Sirithanaratkul N, Chowthaworn J, Pootrakul P: α- and β- thalassemia in Thailand. Ann NY Acad Sci 1998;850:412–4.
Laosombat V, Viprakasit V, Chotsampancharoen T, Wongchanchailert M, Khodchawan S, Chinchang W, et al. Clinical features and molecular analysis in Thai patients with HbH disease. Ann Hematol 2009;88:1185-92.
Musallam KM, Rivella S, Vichinsky E, Rachmilewitz EA. Non-transfusion-dependent thalassemias. Haematologica 2013;98(6):833-44.
Trivaree C, Boonyawat B, Monsereenusorn C, Rujkiyanont P, Photia A. Clinical and molecular genetic features of Hb H and AEBart’s disease in central Thai children. Appl Clin Genet 2018;11:23-30.
Lal A, Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP. Heterogeneity of Hemoglobin H Disease in Childhood. N Engl J Med 2011;364:710-8.
Chui DHK. Alpha-thalassemia and population health in Southeast Asia. Annals of Human Biology 2005;32:123-130.
Charoenkwan P, Taweephon R, Sae-Tung R, Thanarattanakorn P, Sanguansermsri T. Molecular and clinical features of Hb H disease in northern Thailand. Hemoglobin 2005;29(2):133–140. doi:10.1081/HEM-200058583
Kliegman RM, ST Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nelson Textbook of pediatrics. 21th ed. Elsevier; 2019.
Taher A, Musallam K, Karimi M, El-Beshlawy A, Belhoul K, Daar S, et al. Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study. Blood 2010;115(10):1886-92.
Taher A, Musallam K, Cappellini MD. Guidelines for the management of non transfusion dependent thalassemia (NTDT). 2nd ed. Nicoria: Thalassemia International Federation publishing; 2017.
Hockham C, Ekwattanakit S, Bhatt S, Penman BS, Gupta S, Viprakasit V, et al. Estimating the burden of alpha-thalassemia in Thailand using a comprehensive prevalence database for Southeast Asia. e-Life research communication 2019;8:e40580.
Prayalaw P, Teawtrakul N, Jetsrisuparb A, Pongudom S, Fucharoen G, Fucharoen S. Phenotype and genotype in a cohort of 312 adult patients with nontransfusion-dependent thalassemia in northeast Thailand. Acta Hematol 2016;135:15-20.
Boonyawat B, Photia A, Monsereenusorn C, Rujkiyanont P, Trivaree C. Molecular characterization of Hb H and AEBart’s disease in Thai Children: Phramongkutklao hospital experiences. J Med Assoc Thai 2017;100:167-74.
Tritipsombut J, Sanchaisuriya K, Phollarp P, Bouakhasith D, Sanchaisuriya P, Fucharoen G, et al. Micromapping of thalassemia and hemoglobinopathies in different regions of northeast Thailand and Vientiane, Lao PDR. Hemoglobin 2012;36(1):47-56.
Sanchaisuriya K, Fucharoen G, Fucharoen S. Hb Pakse [(alpha2) codon 142 (TAA TAT or Term Tyr) in Thai patients with EABart’s disease and Hb H disease. Hemoglobin 2002;26(3):227-235.
Saxena A. Growth Retardation in Thalassemia Major Patients. Int J Hum Genet 2003;3(4):237-46.
Au WY, Cheung WC, Hu WH, Chan GCF, Ha SY, Khong PL, et al. Hyperbilirubinemia and cholelithiasis in Chinese patients with hemoglobin H disease. Ann Hematol 2005;84:671-674.
Fucharoen S, WinichagoonP. Hemoglobinopathies in Southeast Asia.Hemoglobin.1987; 11: 65–88.
Laig M, Pape M, Hundrieser J, Flatz G, Sanguansermsri T, Das BM, et al. The distribution of the Hb Constant Spring gene in Southeast Asian populations.Hum Genet.1990;84: 188–190.
Wasi P, Pootrakul S, Pootrakul P, Pravatmuang P, Winichagood P, Fucharoen S: Thalassemia in Thailand. Ann NY Acad Sci.1980;344:352
Jomoui W, Fucharoen G, Sanchaisuriya K, Nguyen VH, Fucharoen S.Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis.PLoS One.2015;10(12):e0145230.
Singha K, Wiangnon S, Fucharoen G, Jetsrisuparb A, Komwilaisak P, Fucharoen S.Severe thalassemia syndrome caused by Hemoglobin Pak Num Po AEBart's disease: A hematological, molecular, and diagnostic aspects. Int J Lab Hematol. 2020;42(4):e173-e176
How to Cite
“Clinical spectrum and genotypes of children with alpha-thalassemia in northeastern, Thailand ” (2025) Mediterranean Journal of Hematology and Infectious Diseases, 17(1), p. e2025081. doi:10.4084/MJHID.2025.081.
Copyright (c) 2025 Patcharee Komvilaisak, Nattakarn Sangkha, Arunee Jetsrisuparp, Kunanya Suwannaying1 Suwannaying, Goonnapa Fucharoen, Napat Laoaroon
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
