Nguyen Thao Minh, Sadiq Sara, Peterson Joshua M, Wang Leonard K, Botiralieva Gulrukh, Chernov Yaroslav, Muthukumar Akila, Lyapichev Kirill A
Department of Pathology, The University of Texas Medical Branch, Galveston, TX.
Division of Hematology and Oncology, Department of Pediatrics, The Universisty of Texas Medical Branch, Galveston, TX.
J Pediatr Hematol Oncol. 2025 Aug 1;47(6):e278-e281. doi: 10.1097/MPH.0000000000003057. Epub 2025 May 29.
Glucose-6-phosphate (G6PD) deficiency is the most prevalent enzyme deficiency and is estimated to affect 400 million people. The patients are usually asymptomatic and diagnosed following hemolytic episodes triggered by oxidative stress. Another type of hemolytic anemia known as dehydrated hereditary stomatocytosis (DHSt) is estimated to affect less than 1 per 1,000,000 people. DHSt is caused by increased cation efflux and dehydration in red blood cells, which leads to decreased flexibility making them more vulnerable to lysis. Compared with G6PD, DHSt has a mild presentation, where most patients (84%) with isolated DHSt exhibit chronic hemolysis. Both diseases, G6PD deficiency and DHSt, are inherited hemolytic anemias and to the best of our knowledge have never been reported to coexist in the same patient. Herein, we present the first case of concurrent G6PD deficiency and DHS in a 4-month-old male. We discuss the clinical presentation and hematopathology findings from this patient as well as provide a comparison literature review. We believe this presentation will add to the current body of knowledge for these conditions and help to guide future investigation and management.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是最常见的酶缺乏症，据估计影响4亿人。患者通常无症状，在由氧化应激引发的溶血发作后被诊断出来。另一种溶血性贫血，称为脱水遗传性口形红细胞增多症（DHSt），据估计每100万人中受影响的人数不到1人。DHSt是由红细胞中阳离子外流增加和脱水引起的，这导致红细胞柔韧性降低，使其更容易破裂。与G6PD相比，DHSt的表现较为轻微，大多数孤立性DHSt患者（84%）表现为慢性溶血。G6PD缺乏症和DHSt这两种疾病都是遗传性溶血性贫血，据我们所知，从未有过在同一患者中共存的报道。在此，我们报告首例4个月大男性同时患有G6PD缺乏症和DHSt的病例。我们讨论了该患者的临床表现和血液病理学发现，并提供了比较文献综述。我们相信，这一病例将丰富目前关于这些病症的知识体系，并有助于指导未来的研究和管理。
