Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia
Objective To explore the hemoglobin H (Hb H) diseases diseases caused by a rare α2-globin gene mutation combined with the Southeast Asian deletion of α -thalassemia gene mutation. Methods For the suspected cases of Hb H disease screened in the First Affiliated Hospital of Guangxi Medical University...
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Editorial Office of Journal of Guangxi Medical University
2025-06-01
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| Series: | Guangxi Yike Daxue xuebao |
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| Online Access: | https://journal.gxmu.edu.cn/article/doi/10.16190/j.cnki.45-1211/r.2025.03.012 |
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| author | Xiaobi LIU Xuan XIAO Hengying ZHU Ping CHEN |
| author_facet | Xiaobi LIU Xuan XIAO Hengying ZHU Ping CHEN |
| author_sort | Xiaobi LIU |
| collection | DOAJ |
| description | Objective To explore the hemoglobin H (Hb H) diseases diseases caused by a rare α2-globin gene mutation combined with the Southeast Asian deletion of α -thalassemia gene mutation. Methods For the suspected cases of Hb H disease screened in the First Affiliated Hospital of Guangxi Medical University from January 2024 to December 2024, the fluorescent PCR melting curve analysis (FCMA) and gap-polymerase chain reaction (Gap-PCR) were used to detect the common non-deletional and deletional types of α-thalassemia gene mutations, and the DNA sequencing was utilized for rare mutation identification. Results Among 239 Hb H disease cases investigated, two cases with rare gene mutations were identified, and the genotype of these two cases was --SEA/αATG > GTGα. The familial cases originated from Nanning, Guangxi, and comprised a 33-year-old mother and her 6-year-old daughter. They had no history of jaundice, hepatosplenomegaly, or blood transfusion. The blood routine analysis showed that the red blood cell count (RBC) was 4.86-5.30×1012/L, Hb 91.0-92.0 g/L, the mean corpuscular volume (MCV) was 60.64-72.40 fL, and the mean corpuscular hemoglobin (MCH) was 17.24-18.90 pg. Hemoglobin analysis revealed that the percentage of Hb H was 20.5%-21.4%, and that of Hb Bart's was 9.8% -10.0%. Conclusion The Hb H disease caused by α2-globin gene initiation codon ATG > GTG mutation combined with the Southeast Asian deletional α-thalassemia was identified in the Guangxi region for the first time. Clinical presentation included mild anemia, and hemoglobin analysis showed the co-existence of Hb H and Hb Bart's. This gene mutation is rare and is prone to be overlooked in routine thalassemia gene testing, requiring gene sequencing for confirmation. |
| format | Article |
| id | doaj-art-3e969b76ba7a4f8eabc2a78e48b3cbe1 |
| institution | Kabale University |
| issn | 1005-930X |
| language | zho |
| publishDate | 2025-06-01 |
| publisher | Editorial Office of Journal of Guangxi Medical University |
| record_format | Article |
| series | Guangxi Yike Daxue xuebao |
| spelling | doaj-art-3e969b76ba7a4f8eabc2a78e48b3cbe12025-08-20T03:31:24ZzhoEditorial Office of Journal of Guangxi Medical UniversityGuangxi Yike Daxue xuebao1005-930X2025-06-0142341541910.16190/j.cnki.45-1211/r.2025.03.012gxykdxxb-42-3-415Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemiaXiaobi LIU0Xuan XIAO1Hengying ZHU2Ping CHEN3Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, ChinaDepartment of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, ChinaDepartment of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, ChinaDepartment of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, ChinaObjective To explore the hemoglobin H (Hb H) diseases diseases caused by a rare α2-globin gene mutation combined with the Southeast Asian deletion of α -thalassemia gene mutation. Methods For the suspected cases of Hb H disease screened in the First Affiliated Hospital of Guangxi Medical University from January 2024 to December 2024, the fluorescent PCR melting curve analysis (FCMA) and gap-polymerase chain reaction (Gap-PCR) were used to detect the common non-deletional and deletional types of α-thalassemia gene mutations, and the DNA sequencing was utilized for rare mutation identification. Results Among 239 Hb H disease cases investigated, two cases with rare gene mutations were identified, and the genotype of these two cases was --SEA/αATG > GTGα. The familial cases originated from Nanning, Guangxi, and comprised a 33-year-old mother and her 6-year-old daughter. They had no history of jaundice, hepatosplenomegaly, or blood transfusion. The blood routine analysis showed that the red blood cell count (RBC) was 4.86-5.30×1012/L, Hb 91.0-92.0 g/L, the mean corpuscular volume (MCV) was 60.64-72.40 fL, and the mean corpuscular hemoglobin (MCH) was 17.24-18.90 pg. Hemoglobin analysis revealed that the percentage of Hb H was 20.5%-21.4%, and that of Hb Bart's was 9.8% -10.0%. Conclusion The Hb H disease caused by α2-globin gene initiation codon ATG > GTG mutation combined with the Southeast Asian deletional α-thalassemia was identified in the Guangxi region for the first time. Clinical presentation included mild anemia, and hemoglobin analysis showed the co-existence of Hb H and Hb Bart's. This gene mutation is rare and is prone to be overlooked in routine thalassemia gene testing, requiring gene sequencing for confirmation.https://journal.gxmu.edu.cn/article/doi/10.16190/j.cnki.45-1211/r.2025.03.012α-thalassemiahb h diseaseα2-globin geneinitiation codonatg > gtg mutation |
| spellingShingle | Xiaobi LIU Xuan XIAO Hengying ZHU Ping CHEN Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia Guangxi Yike Daxue xuebao α-thalassemia hb h disease α2-globin gene initiation codon atg > gtg mutation |
| title | Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia |
| title_full | Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia |
| title_fullStr | Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia |
| title_full_unstemmed | Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia |
| title_short | Study on Hb H disease caused by the α2-globin gene initiation codon ATG > GTG mutation combined with Southeast Asian deletional α-thalassemia |
| title_sort | study on hb h disease caused by the α2 globin gene initiation codon atg gtg mutation combined with southeast asian deletional α thalassemia |
| topic | α-thalassemia hb h disease α2-globin gene initiation codon atg > gtg mutation |
| url | https://journal.gxmu.edu.cn/article/doi/10.16190/j.cnki.45-1211/r.2025.03.012 |
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