Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins
To determine the molecular basis, genotype – phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical phenotypes. Seventeen participants with suspected abnormal...
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| Language: | English |
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Taylor & Francis Group
2024-12-01
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| Series: | Libyan Journal of Medicine |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/19932820.2024.2406620 |
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| author | Sitthichai Panyasai Prasert Chantanaskulwong Nopphadol Permsripong Thippawal Mokmued |
| author_facet | Sitthichai Panyasai Prasert Chantanaskulwong Nopphadol Permsripong Thippawal Mokmued |
| author_sort | Sitthichai Panyasai |
| collection | DOAJ |
| description | To determine the molecular basis, genotype – phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical phenotypes. Seventeen participants with suspected abnormal Hb were studied. Hb analysis was performed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational and α-haplotypic and structural analyses were conducted, and the effects of mutations on globin-chain stability were determined. All participants harbored Hb Hekinan II (HBA1:c.84 G>T) co-inherited with another α-globin gene anomaly. Three novel genotypes, (ααHekinan/αCSα), (ααHekinan/αCSα,βA/βE), and (ααHekinan/αCSα,βE/βE), were characterized. Despite being co-inherited with both α- and β-Hb variants Hb Hekinan II led to minimal changes in erythrocyte parameters, suggesting a non-pathological nature. HPLC but not CE revealed a distinct small shoulder-like Hb pattern. Thai Hb Hekinan II was strongly associated with haplotype [+ - S + - - -] and the possibility of four different haplotypes, while two Burmese Hb Hekinan II were associated with haplotypes [± - S + - + -] and [± - S + - - -]. The novel genotypes identified provide a fresh perspective on Hb Hekinan II diversity. HPLC has superior identification capabilities for samples of Hb Hekinan II co-inherited with α-thalassemia. Thai and Burmese Hb Hekinan II have diverse origins. |
| format | Article |
| id | doaj-art-c1e3f8f63edf4f10aeda1528b760696b |
| institution | OA Journals |
| issn | 1993-2820 1819-6357 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Libyan Journal of Medicine |
| spelling | doaj-art-c1e3f8f63edf4f10aeda1528b760696b2025-08-20T02:07:09ZengTaylor & Francis GroupLibyan Journal of Medicine1993-28201819-63572024-12-0119110.1080/19932820.2024.2406620Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic originsSitthichai Panyasai0Prasert Chantanaskulwong1Nopphadol Permsripong2Thippawal Mokmued3Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, ThailandDepartment of Medical Technology, Phare Hospital, Phare, ThailandDepartment of Medical Technology, Uttaradit Hospital, Uttaradit, ThailandDepartment of Medical Technology, Uttaradit Hospital, Uttaradit, ThailandTo determine the molecular basis, genotype – phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical phenotypes. Seventeen participants with suspected abnormal Hb were studied. Hb analysis was performed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational and α-haplotypic and structural analyses were conducted, and the effects of mutations on globin-chain stability were determined. All participants harbored Hb Hekinan II (HBA1:c.84 G>T) co-inherited with another α-globin gene anomaly. Three novel genotypes, (ααHekinan/αCSα), (ααHekinan/αCSα,βA/βE), and (ααHekinan/αCSα,βE/βE), were characterized. Despite being co-inherited with both α- and β-Hb variants Hb Hekinan II led to minimal changes in erythrocyte parameters, suggesting a non-pathological nature. HPLC but not CE revealed a distinct small shoulder-like Hb pattern. Thai Hb Hekinan II was strongly associated with haplotype [+ - S + - - -] and the possibility of four different haplotypes, while two Burmese Hb Hekinan II were associated with haplotypes [± - S + - + -] and [± - S + - - -]. The novel genotypes identified provide a fresh perspective on Hb Hekinan II diversity. HPLC has superior identification capabilities for samples of Hb Hekinan II co-inherited with α-thalassemia. Thai and Burmese Hb Hekinan II have diverse origins.https://www.tandfonline.com/doi/10.1080/19932820.2024.2406620Hemoglobin hekinan IIα-hemoglobin variantα-globin haplotypehigh-performance liquid chromatographycapillary electrophoresis |
| spellingShingle | Sitthichai Panyasai Prasert Chantanaskulwong Nopphadol Permsripong Thippawal Mokmued Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins Libyan Journal of Medicine Hemoglobin hekinan II α-hemoglobin variant α-globin haplotype high-performance liquid chromatography capillary electrophoresis |
| title | Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins |
| title_full | Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins |
| title_fullStr | Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins |
| title_full_unstemmed | Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins |
| title_short | Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins |
| title_sort | interactions of electrophoretically silent hemoglobin hekinan ii hba1 c 84g t with various forms of α thalassemias and other hemoglobinopathies novel insights into the molecular and hematological characteristics and genetic origins |
| topic | Hemoglobin hekinan II α-hemoglobin variant α-globin haplotype high-performance liquid chromatography capillary electrophoresis |
| url | https://www.tandfonline.com/doi/10.1080/19932820.2024.2406620 |
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