A Rare Hemoglobin Variant: Hemoglobin G-Siriraj, in a Moroccan Patient.

IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2025-01-01 DOI:10.7754/Clin.Lab.2024.240704
A Ousguine, M Bouikhif, Q Zaza, A Biaz, S Bouhsain, A Dami, S El Machtani Idrissi
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Abstract

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.

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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。
背景:血红蛋白G-Siriraj是一种罕见的由β-珠蛋白基因突变引起的血红蛋白变异(HBB: c.22G> a)。本文的重点主要是针对血红蛋白G-Siriraj的色谱和电泳特性进行推定鉴定。值得注意的是,这是摩洛哥第一例记录在案的血红蛋白G-Siriraj病例。方法:这种血红蛋白变异是在一名44岁的摩洛哥患者用高效液相色谱法测定HbA1c时发现的。毛细管电泳和琼脂糖电泳的差异导致怀疑是杂合血红蛋白G-Siriraj。只有珠蛋白基因分析才能确定这种罕见的血红蛋白变异。结论:罕见的血红蛋白变异是一种诊断挑战。根据临床资料进行细胞学和生化检查是有效指导诊断的必要条件。
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来源期刊
Clinical laboratory
Clinical laboratory 医学-医学实验技术
CiteScore
1.50
自引率
0.00%
发文量
494
审稿时长
3 months
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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