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. 2024 Apr 22;14(1):9255.
doi: 10.1038/s41598-024-59987-4.

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand

Wanicha Tepakhan  1 , Sataron Kanjanaopas  2 , Korntip Sreworadechpisal  2 , Tipparat Penglong  2 , Pornpun Sripornsawan  3 , Chaowanee Wangchauy  2 , Chadaporn Nokkong  2 , Chulalak Kongkan  2 , Saristha Buathong  2
Affiliations

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand

Wanicha Tepakhan et al. Sci Rep. .

Abstract

Data on hemoglobin (Hb) variants in southern Thailand are lacking. This study aimed to reassess the frequency of Hb variants and the clinical aspects of compound heterozygous Hb variant with other hemoglobinopathies. We enrolled 13,391 participants from ten provinces in southern Thailand during 2015-2022. Hb analysis was performed using capillary electrophoresis, and mutations in the HBA and HBB genes were identified using PCR or DNA sequencing. Hb variants were identified in 337 (2.5%) unrelated subjects. Nine β-chain variants, namely Hb Malay (76.9%), Hb C (10.1%), Hb D-Punjab (2.9%), Hb G-Makassar (2.3%), Hb Dhonburi (2.3%), Hb Tak (1.4%), Hb J-Bangkok (1.4%), Hb New York (0.3%), and Hb Hope (0.3%), and four α-chain variants-Hb G-Georgia (HBA1) (0.9%), Hb G-Georgia (HBA2) (0.3%), Hb Q-Thailand (0.6%), and Hb St. Luke's-Thailand (0.3%)-were identified. The southern population exhibited a distinct spectrum of Hb variants compared to that observed in the populations from other areas. Several compound heterozygous genotypes were also identified. Combining Hb Malay with Hb E or high Hb F determinants did not require a blood transfusion. This study provides essential information for genetic counseling in thalassemia prevention and control programs in this region.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Distribution of Hb variants among 346 chromosomes of 337 participants across ten provinces of southern Thailand. The number represents the allelic count of Hb variants.
Figure 2
Figure 2
Sanger DNA sequencing results for Hb G-Georgia (HBA1) and (HBA2).
Figure 3
Figure 3
Hemoglobin (Hb) analysis results of Hb variants from southern populations using the capillary electrophoresis method.
Figure 4
Figure 4
Schematic illustrating the primer orientation for the newly developed allele-specific PCR (a). Agarose gel electrophoresis results for the detection of hemoglobin (Hb) G-Georgia (HBA2) (b) and Hb G-Georgia (HBA1) (c). M; 100 bp DNA marker, 1; negative for Hb G-Georgia (HBA2 and HBA1), 2 and 3; positive for Hb G-Georgia (HBA1), 4; positive for Hb G-Georgia (HBA2).
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