{"title":"儿童同型血红蛋白莱波尔病：病例报告","authors":"Rimjhim Sonowal , Aditi Das , Atanu Kumar Dutta , Nihar Ranjan Mishra","doi":"10.1016/j.phoj.2024.07.005","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare.</p></div><div><h3>Case report</h3><p>We describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented with a thalassemia intermedia-like presentation. His diagnosis was confirmed by family screening with high-performance liquid chromatography (HPLC) and genetic testing.</p></div><div><h3>Conclusion</h3><p>Homozygous hemoglobin Lepore can present as thalassemia intermedia. It can be a diagnostic dilemma if only patient's HPLC is reported. Genetic testing and family screening aid to identify and confirm this uncommon variant of hemoglobin.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 219-222"},"PeriodicalIF":0.0000,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000603/pdfft?md5=1a40fd5d2d1c2b285d296dae0c25bec3&pid=1-s2.0-S2468124524000603-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Homozygous hemoglobin Lepore disease in a child: A case report\",\"authors\":\"Rimjhim Sonowal , Aditi Das , Atanu Kumar Dutta , Nihar Ranjan Mishra\",\"doi\":\"10.1016/j.phoj.2024.07.005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare.</p></div><div><h3>Case report</h3><p>We describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented with a thalassemia intermedia-like presentation. His diagnosis was confirmed by family screening with high-performance liquid chromatography (HPLC) and genetic testing.</p></div><div><h3>Conclusion</h3><p>Homozygous hemoglobin Lepore can present as thalassemia intermedia. It can be a diagnostic dilemma if only patient's HPLC is reported. Genetic testing and family screening aid to identify and confirm this uncommon variant of hemoglobin.</p></div>\",\"PeriodicalId\":101004,\"journal\":{\"name\":\"Pediatric Hematology Oncology Journal\",\"volume\":\"9 4\",\"pages\":\"Pages 219-222\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2468124524000603/pdfft?md5=1a40fd5d2d1c2b285d296dae0c25bec3&pid=1-s2.0-S2468124524000603-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Hematology Oncology Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2468124524000603\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Hematology Oncology Journal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2468124524000603","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Homozygous hemoglobin Lepore disease in a child: A case report
Background
Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare.
Case report
We describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented with a thalassemia intermedia-like presentation. His diagnosis was confirmed by family screening with high-performance liquid chromatography (HPLC) and genetic testing.
Conclusion
Homozygous hemoglobin Lepore can present as thalassemia intermedia. It can be a diagnostic dilemma if only patient's HPLC is reported. Genetic testing and family screening aid to identify and confirm this uncommon variant of hemoglobin.
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