Laboratory medicine · 2026
Hemoglobin Hekinan II (HBA1:c.84G>T): an electrophoretically silent α-globin variant missed by routine screening in northern Thailand.
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Theingi Moe, Ruengdit Chedtapak, Punyamung Manoo, Pornprasert Sakorn
Аннотация
INTRODUCTION: This study aimed to characterize the molecular and hematologic features of hemoglobin (Hb) Hekinan II in northern Thailand and to evaluate its phenotypic expression when co-inherited with other hemoglobinopathies.
METHODS: In total, 2314 blood samples were drawn for routine Hb analysis using high-performance liquid chromatography and capillary electrophoresis, and common α0-thalassemia deletions were detected by multiplex real-time polymerase chain reaction with high-resolution melting analysis. Targeted next-generation sequencing using DNA nanoball sequencing technology was applied to identify variations in the HBA1, HBA2, and HBB genes.
RESULTS: Routine laboratory screening failed to detect Hb Hekinan II in all cases. Molecular analysis identified 13 (0.6%) carriers. Individuals with heterozygous Hb Hekinan II showed normal Hb profiles and near-normal red blood cell indices, confirming its clinically silent nature. Co-inheritance with HbE resulted in mild microcytosis resembling the HbE trait, while more complex genotypes involving β0-thalassemia, α+-thalassemia, or additional α-globin variants produced variable hematologic phenotypes. All cases were detected only by molecular methods and were missed by conventional Hb typing.
DISCUSSION: Hemoglobin Hekinan II is a clinically benign but diagnostically challenging α-globin variant that cannot be reliably identified by routine screening. Integrating targeted molecular diagnostics is essential for accurate detection and genetic counseling.
METHODS: In total, 2314 blood samples were drawn for routine Hb analysis using high-performance liquid chromatography and capillary electrophoresis, and common α0-thalassemia deletions were detected by multiplex real-time polymerase chain reaction with high-resolution melting analysis. Targeted next-generation sequencing using DNA nanoball sequencing technology was applied to identify variations in the HBA1, HBA2, and HBB genes.
RESULTS: Routine laboratory screening failed to detect Hb Hekinan II in all cases. Molecular analysis identified 13 (0.6%) carriers. Individuals with heterozygous Hb Hekinan II showed normal Hb profiles and near-normal red blood cell indices, confirming its clinically silent nature. Co-inheritance with HbE resulted in mild microcytosis resembling the HbE trait, while more complex genotypes involving β0-thalassemia, α+-thalassemia, or additional α-globin variants produced variable hematologic phenotypes. All cases were detected only by molecular methods and were missed by conventional Hb typing.
DISCUSSION: Hemoglobin Hekinan II is a clinically benign but diagnostically challenging α-globin variant that cannot be reliably identified by routine screening. Integrating targeted molecular diagnostics is essential for accurate detection and genetic counseling.