A. Abedi, Serhat Çelik, Zeynep Dilan Özçelik Yılmaz, Z. Güven, L. Kaynar
{"title":"遗传性高铁蛋白血症伴缺铁性白内障综合征:病例报告","authors":"A. Abedi, Serhat Çelik, Zeynep Dilan Özçelik Yılmaz, Z. Güven, L. Kaynar","doi":"10.51271/jchor-0024","DOIUrl":null,"url":null,"abstract":"Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. HHCS is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. In this case report, we aimed to present a young female patient with a history of cataracts in herself and her family members. Our patient had the dilemma of iron deficiency anemia and hyperferritinemia. As in our patient, patients with HHCS apply to many outpatient clinics and have difficulty in diagnosis. For this reason, we prepared our case to raise awareness.","PeriodicalId":171029,"journal":{"name":"Journal of Current Hematology & Oncology Research","volume":"819 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hereditary hyperferritinemia cataract syndrome with iron deficiency : a case report\",\"authors\":\"A. Abedi, Serhat Çelik, Zeynep Dilan Özçelik Yılmaz, Z. Güven, L. Kaynar\",\"doi\":\"10.51271/jchor-0024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. HHCS is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. In this case report, we aimed to present a young female patient with a history of cataracts in herself and her family members. Our patient had the dilemma of iron deficiency anemia and hyperferritinemia. As in our patient, patients with HHCS apply to many outpatient clinics and have difficulty in diagnosis. For this reason, we prepared our case to raise awareness.\",\"PeriodicalId\":171029,\"journal\":{\"name\":\"Journal of Current Hematology & Oncology Research\",\"volume\":\"819 \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-11-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Current Hematology & Oncology Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.51271/jchor-0024\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Current Hematology & Oncology Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.51271/jchor-0024","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Hereditary hyperferritinemia cataract syndrome with iron deficiency : a case report
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. HHCS is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. In this case report, we aimed to present a young female patient with a history of cataracts in herself and her family members. Our patient had the dilemma of iron deficiency anemia and hyperferritinemia. As in our patient, patients with HHCS apply to many outpatient clinics and have difficulty in diagnosis. For this reason, we prepared our case to raise awareness.