Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators
Abstract 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...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-10-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-022-03706-3 |
| _version_ | 1811257186325626880 |
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| author | Mitsuru Tsuge Aya Kodera Hiromi Sumitomo Tooru Araki Ryuichi Yoshida Kazuya Yasui Hiroki Sato Yosuke Washio Kana Washio Kenji Shigehara Masato Yashiro Takahito Yagi Hirokazu Tsukahara |
| author_facet | Mitsuru Tsuge Aya Kodera Hiromi Sumitomo Tooru Araki Ryuichi Yoshida Kazuya Yasui Hiroki Sato Yosuke Washio Kana Washio Kenji Shigehara Masato Yashiro Takahito Yagi Hirokazu Tsukahara |
| author_sort | Mitsuru Tsuge |
| collection | DOAJ |
| description | Abstract 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 εγδβ-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 εγδβ-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 εγδβ-thalassemia developed NH due to GALD, and that coexistence of ineffective erythropoiesis in addition to erythrocyte transfusions may have exacerbated iron overload. Low serum hepcidin levels, in this case, might have been caused by decreased hepcidin production arising from fetal liver damage due to neonatal hemochromatosis and increased hepcidin-inhibiting hematopoietic mediators due to the ineffective hematopoiesis observed in thalassemia. |
| first_indexed | 2024-04-12T17:53:29Z |
| format | Article |
| id | doaj.art-264b96d47af24090b285efe21d91f640 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-12T17:53:29Z |
| publishDate | 2022-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-264b96d47af24090b285efe21d91f6402022-12-22T03:22:26ZengBMCBMC Pediatrics1471-24312022-10-012211710.1186/s12887-022-03706-3Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulatorsMitsuru Tsuge0Aya Kodera1Hiromi Sumitomo2Tooru Araki3Ryuichi Yoshida4Kazuya Yasui5Hiroki Sato6Yosuke Washio7Kana Washio8Kenji Shigehara9Masato Yashiro10Takahito Yagi11Hirokazu Tsukahara12Department of Pediatric Acute Disease, Okayama University Academic Field of Medicine, Dentistry, and Pharmaceutical SciencesDepartment of Pediatrics, Fukuyama City HospitalDepartment of Pediatrics, Matsuyama Red Cross HospitalDepartment of Pediatrics, National Hospital Organization Fukuyama Medical CenterDepartment of Gastroenterological Surgery, Okayama University HospitalDepartment of Gastroenterological Surgery, Okayama University HospitalDepartment of Gastroenterological Surgery, Okayama University HospitalDepartment of Pediatric Acute Disease, Okayama University Academic Field of Medicine, Dentistry, and Pharmaceutical SciencesDepartment of Pediatrics, Okayama University HospitalDepartment of Pediatrics, Okayama University HospitalDepartment of Pediatrics, Okayama University HospitalDepartment of Gastroenterological Surgery, Okayama University HospitalDepartment of Pediatrics, Okayama University Academic Field of Medicine, Dentistry, and Pharmaceutical SciencesAbstract 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 εγδβ-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 εγδβ-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 εγδβ-thalassemia developed NH due to GALD, and that coexistence of ineffective erythropoiesis in addition to erythrocyte transfusions may have exacerbated iron overload. Low serum hepcidin levels, in this case, might have been caused by decreased hepcidin production arising from fetal liver damage due to neonatal hemochromatosis and increased hepcidin-inhibiting hematopoietic mediators due to the ineffective hematopoiesis observed in thalassemia.https://doi.org/10.1186/s12887-022-03706-3Neonatal hemochromatosisThalassemiaLiver transplantationGestational alloimmune liver diseaseCase reportHepcidin |
| spellingShingle | Mitsuru Tsuge Aya Kodera Hiromi Sumitomo Tooru Araki Ryuichi Yoshida Kazuya Yasui Hiroki Sato Yosuke Washio Kana Washio Kenji Shigehara Masato Yashiro Takahito Yagi Hirokazu Tsukahara Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators BMC Pediatrics Neonatal hemochromatosis Thalassemia Liver transplantation Gestational alloimmune liver disease Case report Hepcidin |
| title | Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators |
| title_full | Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators |
| title_fullStr | Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators |
| title_full_unstemmed | Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators |
| title_short | Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators |
| title_sort | neonatal hemochromatosis with εγδβ thalassemia a case report and analysis of serum iron regulators |
| topic | Neonatal hemochromatosis Thalassemia Liver transplantation Gestational alloimmune liver disease Case report Hepcidin |
| url | https://doi.org/10.1186/s12887-022-03706-3 |
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