G6PD:急性酒精中毒后巨细胞增多症显示的纯合子缺陷

IF 0.4 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Annales de biologie clinique Pub Date : 2022-11-01 DOI:10.1684/abc.2022.1767

Maïssa Souissi, Antoine Morel-Cahoreau, Sylvie Daliphard, Agnès Lahary, Victor Bobée

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引用次数: 0

摘要

G6PD缺乏症是世界上最常见的遗传性疾病之一，影响着4亿多人。绝大多数患者没有慢性溶血性贫血，但暴露于触发因素后，通常是食用蚕豆、暴露于氧化药物或酸中毒而发生急性溶血性贫血。我们报告一例53岁的妇女，她有急性溶血性贫血，MCV异常快速增加，最终导致发现G6PD缺乏。由于调查没有发现任何共同的触发因素，我们讨论了患者急性饮酒在这一溶血事件中的参与。

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G6PD: a homozygous deficiency revealed by macrocytosis after acute alcoholism

G6PD deficiency is one of the most common genetic disorders in the world, affecting more than 400 million people. The large majority of patients do not have anemia of chronic hemolysis but are subject to acute haemolytic anemia after exposure to triggering factor, usually eating fava beans, exposure to oxidative drugs or acidosis. We report the case of a 53-year-old woman that had an acute haemolytic anemia revealed by abnormally rapid increase of MCV that eventually led to discover G6PD deficiency. As investigation did not identify any common triggering factor, we discuss the involvement of the patient’s acute alcohol consumption in this haemolytic event.

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来源期刊

Annales de biologie clinique 医学-医学：研究与实验

CiteScore

0.80

自引率

20.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Multidisciplinary information with direct relevance to everyday practice Annales de Biologie Clinique, the official journal of the French Society of Clinical Biology (SFBC), supports biologists in areas including continuing education, laboratory accreditation and technique validation. With original articles, abstracts and accounts of everyday practice, the journal provides details of advances in knowledge, techniques and equipment, as well as a forum for discussion open to the entire community.