Community-Based Screening for Heterozygous α0-Thalassemia (--SEA and --THAI Deletions) Using Multiplex Gap-PCR in Pathum Thani Province

Authors

  • Phimwimol Kongphukhiao Department of Medical Technology, Faculty of Allied Health Science, Pathum Thani University, Pathum Thani, Thailand 12000
  • Wichayaporn Prapimpa Department of Medical Technology, Faculty of Allied Health Science, Pathum Thani University, Pathum Thani, Thailand 12000
  • Montalee Theeraapisakkun Department of Biochemistry, Phramongkutklao College of Medicine, Bangkok, Thailand 10400
  • Petchara Tussana Department of Medical Technology, Faculty of Allied Health Science, Pathum Thani University, Pathum Thani, Thailand 12000
  • Punnee Butthep Department of Medical Technology, Faculty of Allied Health Science, Pathum thani University
  • Pasra Arnutti Department of Medical Technology, Faculty of Allied Health Science, Pathum Thani University, Pathum Thani, Thailand 12000 https://orcid.org/0000-0003-1315-8782
  • Surapas Junlawakkananon Department of Biochemistry, Phramongkutklao College of Medicine, Bangkok, Thailand 10400

Keywords:

Alpha-Thalassemia, Gene Deletion, Multiplex Polymerase Chain Reaction, Genetic Carrier Screening, Prevalence

Abstract

Introduction: Alpha-thalassemia is a significant public health problem in Thailand, particularly the Southeast Asian (--SEA) deletion and the THAI deletion (--THAI), which are major causes of heterozygous α0-thalassemia and may lead to hemoglobin Bart’s hydrops fetalis, a life-threatening condition in fetuses.

Objectives: This study aimed to determine the prevalence of heterozygous α0-thalassemia due to --SEA and --THAI deletions in a community population and to evaluate its association with hematological parameters.

Materials and Method: A cross-sectional study was conducted on 95 individuals (aged ≥18 years) residing in Pathum Thani Province. Leftover EDTA blood samples from routine health check-ups were tested for α0-thalassemia (--SEA and --THAI deletions) using multiplex gap-PCR. Hemoglobin (Hb) levels and red blood cell indices were obtained from complete blood counts. Anemia was defined by World Health Organization (WHO) criteria (Hb < 13 g/dL in males, Hb < 12 g/dL in females). Statistical analysis used Fisher’s
exact test to compare proportions.

Results: Of the 95 participants, 90 (94.7%) had a normal genotype (αα/αα), and five (5.3%) were carriers of the --SEA deletion. No --THAI deletion carriers were detected. All individuals carrying the --SEA deletion exhibited anemia with microcytosis, whereas 30% of those with normal genotype were anemic. The association between --SEA carrier status and both anemia and microcytosis was statistically significant (p < 0.01).

Conclusion: The heterozygous α0-thalassemia (--SEA deletion) carrier rate was 5.3% in this community sample. Multiplex gap-PCR proved to be an effective tool for community-based thalassemia carrier screening. These findings provide essential baseline data for planning premarital screening programs and allocating resources for genetic counseling in Pathum Thani.

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Published

2026-05-04

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1.
Kongphukhiao P, Prapimpa W, Theeraapisakkun M, Tussana P, Butthep P, Arnutti P, Junlawakkananon S. Community-Based Screening for Heterozygous α0-Thalassemia (--SEA and --THAI Deletions) Using Multiplex Gap-PCR in Pathum Thani Province. GMSMJ [internet]. 2026 May 4 [cited 2026 May 5];6(2):63-71. available from: https://he02.tci-thaijo.org/index.php/gmsmj/article/view/279770

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Vol. 6 No. 2 (2026): May - August 2026

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Original article

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