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<p>Thalassemia and hemoglobinopathies are highly prevalent in the Lao People’s Democratic Republic (Lao PDR). Luang Prabang Province represents an ethnically diverse area with a high burden of pediatric anemia, but the molecular and hematological characteristics of thalassemia in this setting have not been systematically described. This hospital-based cross-sectional study included consecutive pediatric patients encountered at the Lao Friends Hospital for Children, Luang Prabang, between August and November 2025. Leftover EDTA-anticoagulated blood specimens and corresponding clinical data were analyzed. Hemoglobin analysis was performed using capillary zone electrophoresis, and molecular characterization of α- and β-globin gene defects was conducted using PCR-based assays. A total of 206 pediatric patients were recruited. β-thalassemia disease accounted for 51.9% of hospital presentations (n = 107), while 26.2% of patients had α-thalassemia diseases (n = 54), and the remaining cases comprised combined α- and β-thalassemia diseases (n = 38, 18.9%). Molecular analysis identified as many as 40 distinct thalassemia genotypes, indicating substantial genetic heterogeneity. Among α-thalassemia disease, non-deletional Hb H disease, predominantly associated with the --<sup>SEA</sup>/α<sup>CS</sup>α genotype, was the most frequent presentation. Among β-thalassemia disease, β⁰/β<sup>E</sup> was the most common genotype. At the molecular level, hemoglobin E was the most frequent β-globin allele, followed by the codons 41/42 (-TTCT), codon 17 (A &gt; T), and promoter − 28 mutations (A &gt; G). Hematological findings demonstrated moderate to severe anemia across clinically significant thalassemia syndromes. The first hospital-based molecular and hematological characterization of pediatric thalassemia in northern Lao PDR demonstrates genotypic and phenotypic heterogeneities, with clinically significant β-thalassemia and non-deletional α-thalassemia. These findings provide important evidence to support more accurate diagnostic approaches and inform thalassemia screening and prevention strategies in Lao PDR. </p>

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Molecular and hematological characterization of thalassemia and hemoglobinopathies among pediatric patients in northern Lao People’s Democratic Republic

  • 期刊论文

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  • 发表日期：

    2026年5月6日

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  • Volapheth Kanyasone,
  • Pichpimon Pakpuak,
  • Supitsaraporn Satewin,
  • Anupong Pansuwan,
  • Kritsada Singha,
  • Attawut Chaibunruang,
  • Hataichanok Srivorakun,
  • Supan Fucharoen,
  • Annkham Thammaseng,
  • Sengmany Sengphachan,
  • Hame Thiphalack,
  • Anousine Phonedala,
  • Supawadee Yamsri

摘要

Thalassemia and hemoglobinopathies are highly prevalent in the Lao People’s Democratic Republic (Lao PDR). Luang Prabang Province represents an ethnically diverse area with a high burden of pediatric anemia, but the molecular and hematological characteristics of thalassemia in this setting have not been systematically described. This hospital-based cross-sectional study included consecutive pediatric patients encountered at the Lao Friends Hospital for Children, Luang Prabang, between August and November 2025. Leftover EDTA-anticoagulated blood specimens and corresponding clinical data were analyzed. Hemoglobin analysis was performed using capillary zone electrophoresis, and molecular characterization of α- and β-globin gene defects was conducted using PCR-based assays. A total of 206 pediatric patients were recruited. β-thalassemia disease accounted for 51.9% of hospital presentations (n = 107), while 26.2% of patients had α-thalassemia diseases (n = 54), and the remaining cases comprised combined α- and β-thalassemia diseases (n = 38, 18.9%). Molecular analysis identified as many as 40 distinct thalassemia genotypes, indicating substantial genetic heterogeneity. Among α-thalassemia disease, non-deletional Hb H disease, predominantly associated with the --SEA/αCSα genotype, was the most frequent presentation. Among β-thalassemia disease, β⁰/βE was the most common genotype. At the molecular level, hemoglobin E was the most frequent β-globin allele, followed by the codons 41/42 (-TTCT), codon 17 (A > T), and promoter − 28 mutations (A > G). Hematological findings demonstrated moderate to severe anemia across clinically significant thalassemia syndromes. The first hospital-based molecular and hematological characterization of pediatric thalassemia in northern Lao PDR demonstrates genotypic and phenotypic heterogeneities, with clinically significant β-thalassemia and non-deletional α-thalassemia. These findings provide important evidence to support more accurate diagnostic approaches and inform thalassemia screening and prevention strategies in Lao PDR.