Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a l...
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| Format: | Article |
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Taylor & Francis Group
2025-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2025.2456679 |
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| author | Amornchai Suksusut Jidapa Jaitheang Manussavee Prapphal Pranee Sutcharitchan Ponlapat Rojnuckarin Noppacharn Uaprasert |
| author_facet | Amornchai Suksusut Jidapa Jaitheang Manussavee Prapphal Pranee Sutcharitchan Ponlapat Rojnuckarin Noppacharn Uaprasert |
| author_sort | Amornchai Suksusut |
| collection | DOAJ |
| description | Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC. Hb Hekinan was confirmed by direct DNA sequencing. Additional genetic determinants, including α-thalassemia, β-thalassemia and other variants, were detected using multiplex GAP-PCR, ARMS-PCR or direct DNA sequencing as appropriate.Results: Among 61,997 Hb typing samples, 149 cases of Hb Hekinan were identified in Thai individuals and classified into 8 genotypic groups. These included 104 Hb Hekinan heterozygotes, 10 Hb Hekinan coexisting with α+-thalassemia, 3 Hb Hekinan with non-deletional α-variants, 6 Hb Hekinan with α0-thalassemia, 21 double heterozygote for Hb Hekinan and HbE, 3 Hb Hekinan with β-thalassemia trait, 1 triple heterozygotes (Hb Hekinan/α0-thalassemia/Hb E) and 1 quadruple heterozygote for Hb Hekinan/α+-thalassemia/Hb E/Hb Hope. Hb Hekinan was well-separated from Hb A using IEF but was frequently missed with HPLC. On HPLC, Hb Hekinan could only be identified when coexisting with α0-thalassemia. All cases presented with either normal Hb levels or mild anemia.Conclusions: Hb Hekinan is a prevalent α-globin variant that is often undetected by HPLC but reliably identified using IEF. These findings highlight the importance of incorporating IEF for accurate diagnosis of Hb Hekinan. Most cases are clinically benign, even when interacting with other thalassemia syndromes or Hb variants. |
| format | Article |
| id | doaj-art-b591cdc9b7bb4e40851c88643bd4f925 |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-b591cdc9b7bb4e40851c88643bd4f9252025-01-29T10:09:20ZengTaylor & Francis GroupHematology1607-84542025-12-0130110.1080/16078454.2025.2456679Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohortAmornchai Suksusut0Jidapa Jaitheang1Manussavee Prapphal2Pranee Sutcharitchan3Ponlapat Rojnuckarin4Noppacharn Uaprasert5Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, ThailandDivision of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, ThailandDivision of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, ThailandDivision of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, ThailandDivision of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, ThailandDivision of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, ThailandBackground: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC. Hb Hekinan was confirmed by direct DNA sequencing. Additional genetic determinants, including α-thalassemia, β-thalassemia and other variants, were detected using multiplex GAP-PCR, ARMS-PCR or direct DNA sequencing as appropriate.Results: Among 61,997 Hb typing samples, 149 cases of Hb Hekinan were identified in Thai individuals and classified into 8 genotypic groups. These included 104 Hb Hekinan heterozygotes, 10 Hb Hekinan coexisting with α+-thalassemia, 3 Hb Hekinan with non-deletional α-variants, 6 Hb Hekinan with α0-thalassemia, 21 double heterozygote for Hb Hekinan and HbE, 3 Hb Hekinan with β-thalassemia trait, 1 triple heterozygotes (Hb Hekinan/α0-thalassemia/Hb E) and 1 quadruple heterozygote for Hb Hekinan/α+-thalassemia/Hb E/Hb Hope. Hb Hekinan was well-separated from Hb A using IEF but was frequently missed with HPLC. On HPLC, Hb Hekinan could only be identified when coexisting with α0-thalassemia. All cases presented with either normal Hb levels or mild anemia.Conclusions: Hb Hekinan is a prevalent α-globin variant that is often undetected by HPLC but reliably identified using IEF. These findings highlight the importance of incorporating IEF for accurate diagnosis of Hb Hekinan. Most cases are clinically benign, even when interacting with other thalassemia syndromes or Hb variants.https://www.tandfonline.com/doi/10.1080/16078454.2025.2456679Hemoglobin Hekinanα-globin variantisoelectric focusingphenotypesgenotypes |
| spellingShingle | Amornchai Suksusut Jidapa Jaitheang Manussavee Prapphal Pranee Sutcharitchan Ponlapat Rojnuckarin Noppacharn Uaprasert Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort Hematology Hemoglobin Hekinan α-globin variant isoelectric focusing phenotypes genotypes |
| title | Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort |
| title_full | Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort |
| title_fullStr | Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort |
| title_full_unstemmed | Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort |
| title_short | Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort |
| title_sort | comprehensive hematological and molecular characterization of hemoglobin hekinan α27 b8 glu asp α1 hba1 c 84g t in a large thai cohort |
| topic | Hemoglobin Hekinan α-globin variant isoelectric focusing phenotypes genotypes |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2025.2456679 |
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