{"title":"HbA2:c.96-2A > G 突变：中国 7 例病例报告。","authors":"Xiao-Hua Yu, Yi-Yuan Ge, Xiao-Min Ma, Guang-Kuan Zeng, Yu-Wei Liao, Li-Li Liu, Yan-Bin Cao, Jian-Lian Liang, Bai-Ru Lai, Yan-Qing Zeng, Yu-Chan Huang, Li-Ye Yang","doi":"10.1080/16078454.2024.2426829","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To analyze the hematological phenotype and genotype of <i>HbA2</i>: c.96-2A > G carriers.</p><p><strong>Methods: </strong>The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.</p><p><strong>Results: </strong>Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%-0.90%. The results of genetic analysis showed that all the 7 patients had <i>HbA2</i>: c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with - <sup>SEA</sup> deletion.</p><p><strong>Conclusion: </strong><i>HbA2</i>: c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the <i>HbA2</i>:c.96-2A > G mutation is combined with - <sup>SEA</sup> deletion, an intermediate phenotype of anemia is produced.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"29 1","pages":"2426829"},"PeriodicalIF":2.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>HbA2</i>:c.96-2A > G mutation: report of 7 cases in China.\",\"authors\":\"Xiao-Hua Yu, Yi-Yuan Ge, Xiao-Min Ma, Guang-Kuan Zeng, Yu-Wei Liao, Li-Li Liu, Yan-Bin Cao, Jian-Lian Liang, Bai-Ru Lai, Yan-Qing Zeng, Yu-Chan Huang, Li-Ye Yang\",\"doi\":\"10.1080/16078454.2024.2426829\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To analyze the hematological phenotype and genotype of <i>HbA2</i>: c.96-2A > G carriers.</p><p><strong>Methods: </strong>The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.</p><p><strong>Results: </strong>Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%-0.90%. The results of genetic analysis showed that all the 7 patients had <i>HbA2</i>: c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with - <sup>SEA</sup> deletion.</p><p><strong>Conclusion: </strong><i>HbA2</i>: c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the <i>HbA2</i>:c.96-2A > G mutation is combined with - <sup>SEA</sup> deletion, an intermediate phenotype of anemia is produced.</p>\",\"PeriodicalId\":13161,\"journal\":{\"name\":\"Hematology\",\"volume\":\"29 1\",\"pages\":\"2426829\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/16078454.2024.2426829\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/16078454.2024.2426829","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/12 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
HbA2:c.96-2A > G mutation: report of 7 cases in China.
Objective: To analyze the hematological phenotype and genotype of HbA2: c.96-2A > G carriers.
Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.
Results: Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%-0.90%. The results of genetic analysis showed that all the 7 patients had HbA2: c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with - SEA deletion.
Conclusion: HbA2: c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the HbA2:c.96-2A > G mutation is combined with - SEA deletion, an intermediate phenotype of anemia is produced.
期刊介绍：
Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.
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