Updating the Molecular Spectrum of Non-Deletional Hb H and Hb H-like Disease in Southern Thailand
7 affiliations
- 1Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen 40002, Thailand
- 2Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand
- 3Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand
- 4Department of Pathology, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok 26120, Thailand
- 5Medical Genetic and Genomics Laboratory Unit, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok 26120, Thailand
- 6Research Cluster in Hematology and Genetic Diseases, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok 26120, Thailand
- 7Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand
Abstract
Non-deletional hemoglobin (Hb) H and Hb H-like diseases are clinically significant forms of α-thalassemia with variable severity. In this study, we aimed to update the molecular spectrum of these conditions in southern Thailand and revise the allele proportions of α-thalassemia mutations among screened carriers from different regions in Thailand. A total of 118 patients with non-deletional Hb H or Hb H-like disease were characterized using DNA sequencing and multiplex ligation-dependent probe amplification analysis, and 679 possible α-thalassemia carriers were analyzed to determine allele proportion. Ten distinct genotypes were identified. Hb H-Constant Spring (CS) disease was the most frequent (79.7%), followed by non-deletional Hb H with Hb E heterozygosity (13.6%). Among patients with non-deletional Hb H disease, 76.5% of those with Hb H-CS disease and 68.8% of those with non-deletional Hb H disease and Hb E heterozygosity were classified as NTDT. Three cases of Hb H-like disease with a TDT phenotype caused by compound heterozygous Hb CS/Hb Adana were identified for the first time in Thailand. Homozygous Hb Chumphae was also reported for the first time to exhibit a mild clinical phenotype. Hb Adana was detected at an allele proportion of 1.8% among screened carriers from Southern Thailand, and a multiplex AS-PCR for simultaneous detection of Hb CS, Hb Paksé, and Hb Adana was developed.
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BibTeX
@article{tepakhan2026updating,
title = {{Updating the Molecular Spectrum of Non-Deletional Hb H and Hb H-like Disease in Southern Thailand}},
author = {Wanicha Tepakhan and Sitthichai Panyasai and Wittaya Jomoui and Sataron Kanjanaopas and Korntip Srewaradachpisal and Pornpun Sripornsawan},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = nov,
doi = {10.3390/ijms27219970},
url = {https://www.mdpi.com/1422-0067/27/21/9970},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Updating the Molecular Spectrum of Non-Deletional Hb H and Hb H-like Disease in Southern Thailand
AU - Wanicha Tepakhan
AU - Sitthichai Panyasai
AU - Wittaya Jomoui
AU - Sataron Kanjanaopas
AU - Korntip Srewaradachpisal
AU - Pornpun Sripornsawan
PY - 2026
DA - 2026/11/06
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27219970
UR - https://www.mdpi.com/1422-0067/27/21/9970
AB - Non-deletional hemoglobin (Hb) H and Hb H-like diseases are clinically significant forms of α-thalassemia with variable severity. In this study, we aimed to update the molecular spectrum of these conditions in southern Thailand and revise the allele proportions of α-thalassemia mutations among screened carriers from different regions in Thailand. A total of 118 patients with non-deletional Hb H or Hb H-like disease were characterized using DNA sequencing and multiplex ligation-dependent probe amplification analysis, and 679 possible α-thalassemia carriers were analyzed to determine allele proportion. Ten distinct genotypes were identified. Hb H-Constant Spring (CS) disease was the most frequent (79.7%), followed by non-deletional Hb H with Hb E heterozygosity (13.6%). Among patients with non-deletional Hb H disease, 76.5% of those with Hb H-CS disease and 68.8% of those with non-deletional Hb H disease and Hb E heterozygosity were classified as NTDT. Three cases of Hb H-like disease with a TDT phenotype caused by compound heterozygous Hb CS/Hb Adana were identified for the first time in Thailand. Homozygous Hb Chumphae was also reported for the first time to exhibit a mild clinical phenotype. Hb Adana was detected at an allele proportion of 1.8% among screened carriers from Southern Thailand, and a multiplex AS-PCR for simultaneous detection of Hb CS, Hb Paksé, and Hb Adana was developed.
SN - 1422-0067
ER -