A Case of Concurrent Sickle Cell Trait, Alpha Thalassemia, and G6PD Deficiency in a Pediatric Patient

Vinay Krupadev, Joshua Kirbens, Amina Rafique
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Abstract

Objective: The aim of this study is to highlight the hospital course of a pediatric patient with concurrent sickle cell trait, alpha thalassemia, and G6PD deficiency. Methods: The patient’s direct bilirubin remained less than 0.2 mg/dl throughout his hospitalization but his total bilirubin peaked at 18.7 mg/dl at 84 hours of life. While the patient’s bilirubin levels decreased after this, the decline was not as rapid as anticipated so a peripheral smear was performed which showed spherocytosis. Hemoglobin electrophoresis was also conducted just prior to discharge after the patient’s hyperbilirubinemia had resolved. Results: The results of the patient’s hemoglobin electrophoresis revealed that the patient was a sickle cell trait carrier and also showed evidence of trace Hb Barts consistent with alpha thalassemia. In addition, given the patient’s peripheral smear showing spherocytosis, G6PD levels were also assessed and found to be low consistent with mild to moderate G6PD deficiency. The patient’s family was educated about precautions to take to reduce the risk of excessive oxidative stress that could precipitate acute hemolytic anemia episodes in the future. Conclusion: The concurrent presentation of sickle cell trait, alpha thalassemia, and G6PD deficiency is rare and it is theorized that each trait respectively confers an evolutionary advantage against malaria.
镰状细胞特征、α地中海贫血和G6PD缺乏症患儿一例
目的:本研究的目的是强调合并镰状细胞特征、α地中海贫血和G6PD缺乏症的儿科患者的住院过程。方法:患者的直接胆红素在住院期间保持在0.2 mg/dl以下,但总胆红素在84小时时达到18.7 mg/dl的峰值。虽然患者的胆红素水平在此之后下降,但下降速度没有预期的那么快,因此进行了外周涂片检查,显示球形红细胞增多。在患者高胆红素血症消退后,在出院前进行血红蛋白电泳。结果:患者血红蛋白电泳结果显示患者为镰状细胞特征携带者,同时显示微量Hb Barts与α地中海贫血一致。此外,考虑到患者的外周涂片显示球形细胞增多,也评估了G6PD水平,发现低与轻度至中度G6PD缺乏症一致。患者家属接受了预防措施的教育,以减少未来可能引发急性溶血性贫血发作的过度氧化应激风险。结论:镰状细胞性状、α地中海贫血和G6PD缺乏症同时出现的情况很少见,从理论上讲,这两种性状分别赋予了抗疟疾的进化优势。
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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