{"title":"镰状细胞特征、α地中海贫血和G6PD缺乏症患儿一例","authors":"Vinay Krupadev, Joshua Kirbens, Amina Rafique","doi":"10.35248/2684-1266.21.7.129","DOIUrl":null,"url":null,"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.","PeriodicalId":22619,"journal":{"name":"The Journal of Cancer Research","volume":"42 1","pages":"1-2"},"PeriodicalIF":0.0000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Case of Concurrent Sickle Cell Trait, Alpha Thalassemia, and G6PD Deficiency in a Pediatric Patient\",\"authors\":\"Vinay Krupadev, Joshua Kirbens, Amina Rafique\",\"doi\":\"10.35248/2684-1266.21.7.129\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":22619,\"journal\":{\"name\":\"The Journal of Cancer Research\",\"volume\":\"42 1\",\"pages\":\"1-2\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Journal of Cancer Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.35248/2684-1266.21.7.129\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of Cancer Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.35248/2684-1266.21.7.129","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Case of Concurrent Sickle Cell Trait, Alpha Thalassemia, and G6PD Deficiency in a Pediatric Patient
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.