一名患有葡萄糖-6-磷酸脱氢酶 A 型和新型杂合子 PIEZO1 基因突变（2744A>G，N915S）并伴有严重溶血性贫血的 3 岁坦桑尼亚女性。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Annals of African Medicine Pub Date : 2024-10-01 Epub Date: 2024-08-13 DOI:10.4103/aam.aam_29_24

Nicholas John Fustino, Raven Beck

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摘要

摘要：一名 3 岁的坦桑尼亚女孩因病因不明的严重溶血性贫血而不得不多次输注红细胞。该患者被发现患有葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症 A 型和杂合子 PIEZO 型机械敏感性离子通道元件 1（PIEZO1）突变（2744A>G，N915S）。本病例发现了一种新型 PIEZO1 基因突变，这种突变与一名女性患者的红细胞通道病变和 X 连锁酶病有关。这强调了在女性溶血性贫血的鉴别诊断中保留 X 连锁疾病的重要性，并提出了新的共存突变增强表型的可能性。

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A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

A 3-year-old Tanzanian female presented with severe hemolytic anemia of unknown etiology, necessitating multiple red blood cell transfusions. The patient was found to have glucose-6-phosphate dehydrogenase (G6PD) deficiency A- and a heterozygous Piezo-type mechanosensitive ion channel component 1 (PIEZO1) mutation (2744A>G, N915S). This case identifies a novel PIEZO1 mutation implicated in erythrocyte channelopathies occurring in conjunction with an X-linked enzymopathy in a female patient. This underscores the importance of keeping X-linked disorders in the differential diagnosis of hemolytic anemia in females, as well as presents the possibility for novel coexisting mutations to augment the phenotype.

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Annals of African Medicine MEDICINE, GENERAL & INTERNAL-

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0.90

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期刊介绍： The Annals of African Medicine is published by the Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria and the Annals of African Medicine Society. The Journal is intended to serve as a medium for the publication of research findings in the broad field of Medicine in Africa and other developing countries, and elsewhere which have relevance to Africa. It will serve as a source of information on the state of the art of Medicine in Africa, for continuing education for doctors in Africa and other developing countries, and also for the publication of meetings and conferences. The journal will publish articles I any field of Medicine and other fields which have relevance or implications for Medicine.