A Ousguine, M Bouikhif, Q Zaza, A Biaz, S Bouhsain, A Dami, S El Machtani Idrissi
{"title":"一种罕见的血红蛋白变体：一名摩洛哥患者的G-Siriraj血红蛋白。","authors":"A Ousguine, M Bouikhif, Q Zaza, A Biaz, S Bouhsain, A Dami, S El Machtani Idrissi","doi":"10.7754/Clin.Lab.2024.240704","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hemoglobin G-Siriraj is a rare hemoglobin variant caused by a β-globin gene mutation (HBB: c.22G>A). The focus of this paper is aimed mainly at the chromatographic and electrophoretic properties of hemoglobin G-Siriraj for a presumptive identification. Notably, this is the first documented case of hemoglobin G-Siriraj in Morocco.</p><p><strong>Methods: </strong>This hemoglobin variant was discovered in a 44-year-old Moroccan patient while measuring HbA1c with high-performance liquid chromatography. The discrepancies between capillary electrophoresis and the acid agarose electrophoresis led to suspicion of heterozygous hemoglobin G-Siriraj. Only the globin gene analysis can identify definitively this rare hemoglobin variant.</p><p><strong>Conclusions: </strong>Rare hemoglobin variants represent a diagnostic challenge. Contextualizing cytological and biochemical explorations based on clinical data is essential for effectively guiding diagnosis.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 1","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Rare Hemoglobin Variant: Hemoglobin G-Siriraj, in a Moroccan Patient.\",\"authors\":\"A Ousguine, M Bouikhif, Q Zaza, A Biaz, S Bouhsain, A Dami, S El Machtani Idrissi\",\"doi\":\"10.7754/Clin.Lab.2024.240704\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hemoglobin G-Siriraj is a rare hemoglobin variant caused by a β-globin gene mutation (HBB: c.22G>A). The focus of this paper is aimed mainly at the chromatographic and electrophoretic properties of hemoglobin G-Siriraj for a presumptive identification. Notably, this is the first documented case of hemoglobin G-Siriraj in Morocco.</p><p><strong>Methods: </strong>This hemoglobin variant was discovered in a 44-year-old Moroccan patient while measuring HbA1c with high-performance liquid chromatography. The discrepancies between capillary electrophoresis and the acid agarose electrophoresis led to suspicion of heterozygous hemoglobin G-Siriraj. Only the globin gene analysis can identify definitively this rare hemoglobin variant.</p><p><strong>Conclusions: </strong>Rare hemoglobin variants represent a diagnostic challenge. Contextualizing cytological and biochemical explorations based on clinical data is essential for effectively guiding diagnosis.</p>\",\"PeriodicalId\":10384,\"journal\":{\"name\":\"Clinical laboratory\",\"volume\":\"71 1\",\"pages\":\"\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical laboratory\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7754/Clin.Lab.2024.240704\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.240704","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
A Rare Hemoglobin Variant: Hemoglobin G-Siriraj, in a Moroccan Patient.
Background: Hemoglobin G-Siriraj is a rare hemoglobin variant caused by a β-globin gene mutation (HBB: c.22G>A). The focus of this paper is aimed mainly at the chromatographic and electrophoretic properties of hemoglobin G-Siriraj for a presumptive identification. Notably, this is the first documented case of hemoglobin G-Siriraj in Morocco.
Methods: This hemoglobin variant was discovered in a 44-year-old Moroccan patient while measuring HbA1c with high-performance liquid chromatography. The discrepancies between capillary electrophoresis and the acid agarose electrophoresis led to suspicion of heterozygous hemoglobin G-Siriraj. Only the globin gene analysis can identify definitively this rare hemoglobin variant.
Conclusions: Rare hemoglobin variants represent a diagnostic challenge. Contextualizing cytological and biochemical explorations based on clinical data is essential for effectively guiding diagnosis.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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