Molecular and Hematological Characteristics of α-thalassemia Diseases in Pediatric Patients at Lao Friends Hospital for Children

För Laos Friends Hospital for Children stöttar vi forskningsprojektet “Molecular and Hematological Characteristics of α-thalassemia Diseases in Pediatric Patients at Lao Friends Hospital for Children."

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Background

α-thalassemia is a prevalent inherited hemoglobin (Hb) disorder in Southeast Asia. However, its diagnosis remains challenging in resource-limited settings where molecular testing is not routinely accessible. At Lao Friends Hospital for Children (LFHC) in Luang Prabang, Lao PDR, α-thalassemia in pediatric patients is diagnosed based on hematological parameters and Hb typing, without molecular confirmation. This study aimed to describe the molecular and hematological characteristics of these patients to improve diagnostic accuracy, clinical management, and prevention strategies.

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Methods ‍

A total of 44 patients diagnosed with α-thalassemia diseases based on hematological parameters and Hb typing at LFHC were included in the study. Hematological parameters were obtained from complete blood counts and Hb electrophoresis. Globin genotyping was performed using PCR-based techniques to detect common α-thalassemia deletions and point mutations found in the region.

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Results

Among the 44 pediatric patients included in the study, 31 (70.5%) were diagnosed with Hb H-constant spring (Hb H-CS) disease, predominantly with the --SEA/αCSα genotype (n=30), whereas one patient carried the rare --THAI/αCSα genotype (n=1). Thirteen patients (29.5%) were diagnosed with CS-AEBart’s disease with --SEA/αCSα, βE/βA genotype. Patients with Hb H-CS had a mean Hb of 7.8 g/dL, mean corpuscular volume (MCV) of 71.7 fL, and mean corpuscular hemoglobin (MCH) of 19.0 pg. Patients with CS-AEBart’s disease showed slightly lower mean Hb (7.4 g/dL), MCV (65.6 fL), and MCH (18.0 pg). In terms of clinical severity, eight patients with Hb H-CS and five with CS-AEBart’s disease were diagnosed with transfusion-dependent thalassemia (TDT), whereas the remaining 23 and 8 patients, respectively, had non-transfusion-dependent thalassemia (NTDT).

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Conclusion

This study reveals a high prevalence of non-deletional α-thalassemia syndromes, particularly Hb H-CS and CS-AEBart’s disease, among pediatric patients in northern Laos.

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