Acquired glucose-6-phosphate dehydrogenase deficiency after allogeneic stem-cell transplantation

EJHaem Pub Date : 2024-06-30 DOI:10.1002/jha2.920
Quentin Vô, Mehdi Khourssaji, Alaa Beshir, Elodie Collinge
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引用次数: 0

Abstract

A 29-year-old Caucasian man was treated for acute myeloid leukemia. He underwent allogeneic stem cell transplantation from an unrelated donor. Six months after the transplant, he relapsed, and salvage chemotherapy was administered, including azacitidine and venetoclax. Vitamin C was added to enhance the azacitidine effect. Rasburicase and allopurinol were given to prevent tumor lysis syndrome. The following day, the patient developed a fever, and an influenza infection was diagnosed and treated with oseltamivir.

On the third day of azacitidine treatment, his blood test showed a hemoglobin level of 6.8 g/dL (range: 13.3–17.6), mean corpuscular volume of 110.6 fL (range: 80.1–99.8), indirect hyperbilirubinemia (indirect bilirubin at 6.35 mg/dL), an undetectable haptoglobin, and a high level of lactate dehydrogenase (1464 IU/L, range: 120–246). These features were suggestive of a hemolytic crisis. A blood smear was performed, showing no schizocytes but revealing hemighost red blood cells (Figure 1), suggesting a glucose-6-phosphate dehydrogenase (G6PD) deficiency. Other causes of hemolysis were excluded, including deficiencies and thrombotic microangiopathy.

The patient had no personal or family history of a hemolytic crisis. The G6PD activity was low, but the patient had received red blood cell transfusions. The graft donor came from the Middle East. After a few days, the G6PD deficiency was confirmed by the donor medical team, but this information was not transmitted before the allogeneic stem cell transplantation.

G6PD deficiency, also known as favism, is an X-linked hereditary disease commonly found in African, Asian, Mediterranean, and Middle Eastern regions. It is the most common human enzyme defect, affecting more than 500 million people worldwide. Hemolysis mainly occurs after infection or exposure to oxidant drugs. Rasburicase is known to be a strong trigger of hemolysis in G6PD-deficient patients.

To our knowledge, this represents the first documented instance of a hemolytic crisis arising from acquired G6PD deficiency subsequent to an allogeneic stem cell transplantation. G6PD deficiency may be transmitted either from a symptomatic donor, regardless of gender, or from an asymptomatic heterozygous female donor following lyonization. The case report highlights the difficulty of establishing a diagnosis of a congenital disease, especially in a low-prevalence country. It underscores the importance of a correct donor evaluation and the necessity of good communication between the patient/donor transplant teams.

Dr. Vô Quentin: data collection, writing, and editing of the manuscript. Dr. Beshir Alaa: data collection. Dr. Collinge Elodie: critical feedback and manuscript revision. Dr. Khourssaji Mehdi: biological analysis and clinical photography. All authors read and approved the final manuscript.

The authors declare no conflict of interest.

The authors received no specific funding for this work.

The authors have confirmed ethical approval statement is not needed for this submission.

The authors have confirmed patient consent statement is not needed for this submission.

The authors have confirmed clinical trial registration is not needed for this submission.

Abstract Image

异体干细胞移植后获得性葡萄糖-6-磷酸脱氢酶缺乏症
一名 29 岁的白种男子接受了急性髓性白血病治疗。他接受了非亲缘供体的异体干细胞移植。移植六个月后,他的病情复发,于是进行了挽救性化疗,包括阿扎胞苷和韦尼替克。为了增强阿扎胞苷的效果,还添加了维生素C。为预防肿瘤溶解综合征,还服用了拉布替卡酶和别嘌呤醇。在阿扎胞苷治疗的第三天,他的血检显示血红蛋白水平为 6.8 g/dL(范围:13.在阿扎胞苷治疗的第三天,他的血检结果显示血红蛋白水平为 6.8 g/dL(范围:13.3-17.6),平均血球容积为 110.6 fL(范围:80.1-99.8),间接高胆红素血症(间接胆红素为 6.35 mg/dL),检测不到隐血红蛋白,乳酸脱氢酶水平较高(1464 IU/L,范围:120-246)。这些特征都提示发生了溶血危象。进行了血液涂片检查,结果显示没有裂殖细胞,但发现了血红蛋白红细胞(图 1),提示患者缺乏葡萄糖-6-磷酸脱氢酶(G6PD)。患者没有溶血危象的个人或家族病史。患者的G6PD活性较低,但曾接受过红细胞输血。移植供体来自中东。几天后,G6PD 缺乏症得到了供体医疗团队的确认,但在异体干细胞移植前,这一信息并没有被告知。G6PD 缺乏症又称 "Favism",是一种 X 连锁遗传病,常见于非洲、亚洲、地中海和中东地区。它是最常见的人类酶缺陷,全球有超过 5 亿人患有此病。溶血主要发生在感染或接触氧化药物之后。据我们所知,这是在同种异体干细胞移植后,因获得性G6PD缺乏症而引发溶血危机的首例记录在案的病例。G6PD缺乏症既可能由无症状的供体(无论性别)传染,也可能由无症状的杂合子女性供体在淋巴细胞化后传染。该病例报告凸显了确诊先天性疾病的难度,尤其是在发病率较低的国家。它强调了正确评估供体的重要性以及患者/供体移植团队之间良好沟通的必要性。贝希尔-阿拉(Beshir Alaa)博士:数据收集。Collinge Elodie博士:重要反馈和手稿修改。Khourssaji Mehdi 博士:生物分析和临床摄影。所有作者均已阅读并批准最终稿件。作者声明无利益冲突。作者未因此项工作获得任何特定资助。作者已确认本次提交的稿件无需伦理批准声明。作者已确认本次提交的稿件无需患者同意声明。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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