دورية أكاديمية
Neonatal hemochromatosis with epsilon gamma delta beta-thalassemia: a case report and analysis of serum iron regulators
| العنوان: | Neonatal hemochromatosis with epsilon gamma delta beta-thalassemia: a case report and analysis of serum iron regulators |
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| المؤلفون: | Tsuge, Mitsuru, Kodera, Aya, Sumitomo, Hiromi, Araki, Tooru, Yoshida, Ryuichi, Yasui, Kazuya, Sato, Hiroki, Washio, Yosuke, Washio, Kana, Shigehara, Kenji, Yashiro, Masato, Yagi, Takahito, Tsukahara, Hirokazu |
| المصدر: | BMC Pediatrics |
| بيانات النشر: | BMC |
| سنة النشر: | 2023 |
| المجموعة: | Okayama University Scientific Achievement Repository / 岡山大学学術成果リポジトリ |
| مصطلحات موضوعية: | Neonatal hemochromatosis, Thalassemia, Liver transplantation, Gestational alloimmune liver disease, Case report, Hepcidin, Ineffective erythropoiesis, Growth differentiation factor-15 |
| الوصف: | Background Neonatal hemochromatosis causes acute liver failure during the neonatal period, mostly due to gestational alloimmune liver disease (GALD). Thalassemia causes hemolytic anemia and ineffective erythropoiesis due to mutations in the globin gene. Although neonatal hemochromatosis and thalassemia have completely different causes, the coexistence of these diseases can synergistically exacerbate iron overload. We report that a newborn with epsilon gamma delta beta-thalassemia developed neonatal hemochromatosis, which did not respond to iron chelators and rapidly worsened, requiring living-donor liver transplantation. Case presentation A 1-day-old Japanese boy with hemolytic anemia and targeted red blood cells was diagnosed with epsilon gamma delta beta-thalassemia by genetic testing, and required frequent red blood cell transfusions. At 2 months after birth, exacerbation of jaundice, grayish-white stool, and high serum ferritin levels were observed, and liver biopsy showed iron deposition in hepatocytes and Kupffer cells. Magnetic resonance imaging scans showed findings suggestive of iron deposits in the liver, spleen, pancreas, and bone marrow. The total amount of red blood cell transfusions administered did not meet the criteria for post-transfusion iron overload. Administration of an iron-chelating agent was initiated, but iron overload rapidly progressed to liver failure without improvement in jaundice and liver damage. He underwent living-donor liver transplantation from his mother, after which iron overload disappeared, and no recurrence of iron overload was observed. Immunohistochemical staining for C5b-9 in the liver was positive. Serum hepcidin levels were low and serum growth differentiation factor-15 levels were high prior to living-donor liver transplantation. Conclusions We reported that an infant with epsilon gamma delta beta-thalassemia developed NH due to GALD, and that coexistence of ineffective erythropoiesis in addition to erythrocyte transfusions may have exacerbated iron overload. Low ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1471-2431 |
| العلاقة: | info:pmid/36309641; https://ousar.lib.okayama-u.ac.jp/files/public/6/64131/20221114105548300537/fulltext.pdfTest; https://ousar.lib.okayama-u.ac.jp/64131Test |
| الإتاحة: | https://doi.org/10.1186/s12887-022-03706-3Test https://ousar.lib.okayama-u.ac.jp/files/public/6/64131/20221114105548300537/fulltext.pdfTest https://ousar.lib.okayama-u.ac.jp/64131Test |
| حقوق: | © The Author(s) 2022. |
| رقم الانضمام: | edsbas.4476656F |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14712431 |
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