Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia
Background: Hypotransferrinemia is a rare cause of anemia presenting in early childhood. The clinical scenario may mimic iron deficiency anemia at onset with no response to multiple courses of hematinics. Secondary complications may be due to iron overload in the liver and other organs. Case report:...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-03-01
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| Series: | Pediatric Hematology Oncology Journal |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468124523003558 |
| _version_ | 1797244908891799552 |
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| author | Shrikiran Aroor Suneel C. Mundkur Sandeep Kumar Koushik Handattu Praveen C. Samuel |
| author_facet | Shrikiran Aroor Suneel C. Mundkur Sandeep Kumar Koushik Handattu Praveen C. Samuel |
| author_sort | Shrikiran Aroor |
| collection | DOAJ |
| description | Background: Hypotransferrinemia is a rare cause of anemia presenting in early childhood. The clinical scenario may mimic iron deficiency anemia at onset with no response to multiple courses of hematinics. Secondary complications may be due to iron overload in the liver and other organs. Case report: We report a rare case of congenital hypotransferrinemia in an adolescent girl who presented with microcytic hypochromic anemia refractory to iron therapy in infancy. During long-term follow-up, she developed cardiac failure due to secondary hemochromatosis, which was managed successfully with chelation therapy. Conclusion: Hypotransferrinemia should be considered as a differential diagnosis of microcytic hypochromic anemia refractory to iron therapy in infancy. Regular follow-up and monitoring are essential to look for evidence of iron overload and optimize chelation therapy to prevent complications. |
| first_indexed | 2024-03-08T08:26:22Z |
| format | Article |
| id | doaj.art-4d2b35b5b6ee4cc0a92c312a663517df |
| institution | Directory Open Access Journal |
| issn | 2468-1245 |
| language | English |
| last_indexed | 2024-04-24T19:18:29Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatric Hematology Oncology Journal |
| spelling | doaj.art-4d2b35b5b6ee4cc0a92c312a663517df2024-03-26T04:26:55ZengElsevierPediatric Hematology Oncology Journal2468-12452024-03-01913739Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemiaShrikiran Aroor0Suneel C. Mundkur1Sandeep Kumar2Koushik Handattu3Praveen C. Samuel4Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, IndiaCorresponding author.; Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, IndiaDepartment of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, IndiaDepartment of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, IndiaDepartment of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, IndiaBackground: Hypotransferrinemia is a rare cause of anemia presenting in early childhood. The clinical scenario may mimic iron deficiency anemia at onset with no response to multiple courses of hematinics. Secondary complications may be due to iron overload in the liver and other organs. Case report: We report a rare case of congenital hypotransferrinemia in an adolescent girl who presented with microcytic hypochromic anemia refractory to iron therapy in infancy. During long-term follow-up, she developed cardiac failure due to secondary hemochromatosis, which was managed successfully with chelation therapy. Conclusion: Hypotransferrinemia should be considered as a differential diagnosis of microcytic hypochromic anemia refractory to iron therapy in infancy. Regular follow-up and monitoring are essential to look for evidence of iron overload and optimize chelation therapy to prevent complications.http://www.sciencedirect.com/science/article/pii/S2468124523003558Congenital hypotransferrinemiaSecondary hemochromatosisRefractory microcytic hypochromic anemiaAdolescent |
| spellingShingle | Shrikiran Aroor Suneel C. Mundkur Sandeep Kumar Koushik Handattu Praveen C. Samuel Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia Pediatric Hematology Oncology Journal Congenital hypotransferrinemia Secondary hemochromatosis Refractory microcytic hypochromic anemia Adolescent |
| title | Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia |
| title_full | Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia |
| title_fullStr | Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia |
| title_full_unstemmed | Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia |
| title_short | Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia |
| title_sort | refractory microcytic hypochromic anemia with type i diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia |
| topic | Congenital hypotransferrinemia Secondary hemochromatosis Refractory microcytic hypochromic anemia Adolescent |
| url | http://www.sciencedirect.com/science/article/pii/S2468124523003558 |
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