Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin

Neonatal Hemochromatosis (NH) is a rare phenotype of severe fetal/neonatal liver injury that is accompanied by extrahepatic siderosis. Current clinical evidence shows that NH is not a disease per se, but is the consequence of fetal liver injury. Gestational alloimmune liver disease is the cause of n...

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Main Authors: Ehab Mohamed Hantash, Abdulrahman Al Zahrani, Mohamed Abdoun, Syeda Naqvi, Georges E. Nawfal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-07-01
Series:Dr. Sulaiman Al Habib Medical Journal
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Online Access:https://journals.lww.com/10.2991/dsahmj.k.210715.001
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author Ehab Mohamed Hantash
Abdulrahman Al Zahrani
Mohamed Abdoun
Syeda Naqvi
Georges E. Nawfal
author_facet Ehab Mohamed Hantash
Abdulrahman Al Zahrani
Mohamed Abdoun
Syeda Naqvi
Georges E. Nawfal
author_sort Ehab Mohamed Hantash
collection DOAJ
description Neonatal Hemochromatosis (NH) is a rare phenotype of severe fetal/neonatal liver injury that is accompanied by extrahepatic siderosis. Current clinical evidence shows that NH is not a disease per se, but is the consequence of fetal liver injury. Gestational alloimmune liver disease is the cause of nearly all cases of NH. Affected babies may die in utero, or present postnatally with severe acute liver failure or decompensated congenital liver cirrhosis. Diagnosis depends on the demonstration of extrahepatic siderosis by Magnetic Resonance Imaging (MRI), buccal biopsy, or detection of complement C5b-9 complex on hepatocytes from liver biopsy. Prognosis is generally bad without treatment. Treatment with iron chelators and antioxidants is not helpful. The more recent treatment approach of exchange transfusion and Intravenous Immunoglobulin (IVIG) has shown favorable outcomes. In this report, we describe a case of NH that presented with liver cell failure and high serum ferritin. Diagnosis was confirmed by MRI by demonstration of siderosis in the liver and pancreas while sparing the spleen. The infant was successfully treated with a combination of exchange transfusion and IVIG, and discharged at age 30 days in good condition.
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series Dr. Sulaiman Al Habib Medical Journal
spelling doaj-art-b079bca0dbaf436b8531cf9a80c9a1ab2025-08-20T03:36:45ZengWolters Kluwer Medknow PublicationsDr. Sulaiman Al Habib Medical Journal2666-819X2590-33492021-07-01339910310.2991/dsahmj.k.210715.001Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous ImmunoglobulinEhab Mohamed HantashAbdulrahman Al ZahraniMohamed AbdounSyeda NaqviGeorges E. NawfalNeonatal Hemochromatosis (NH) is a rare phenotype of severe fetal/neonatal liver injury that is accompanied by extrahepatic siderosis. Current clinical evidence shows that NH is not a disease per se, but is the consequence of fetal liver injury. Gestational alloimmune liver disease is the cause of nearly all cases of NH. Affected babies may die in utero, or present postnatally with severe acute liver failure or decompensated congenital liver cirrhosis. Diagnosis depends on the demonstration of extrahepatic siderosis by Magnetic Resonance Imaging (MRI), buccal biopsy, or detection of complement C5b-9 complex on hepatocytes from liver biopsy. Prognosis is generally bad without treatment. Treatment with iron chelators and antioxidants is not helpful. The more recent treatment approach of exchange transfusion and Intravenous Immunoglobulin (IVIG) has shown favorable outcomes. In this report, we describe a case of NH that presented with liver cell failure and high serum ferritin. Diagnosis was confirmed by MRI by demonstration of siderosis in the liver and pancreas while sparing the spleen. The infant was successfully treated with a combination of exchange transfusion and IVIG, and discharged at age 30 days in good condition.https://journals.lww.com/10.2991/dsahmj.k.210715.001hemochromatosisliver failuregestational alloimmune liver diseaseimmunoglobulinexchange transfusion
spellingShingle Ehab Mohamed Hantash
Abdulrahman Al Zahrani
Mohamed Abdoun
Syeda Naqvi
Georges E. Nawfal
Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin
Dr. Sulaiman Al Habib Medical Journal
hemochromatosis
liver failure
gestational alloimmune liver disease
immunoglobulin
exchange transfusion
title Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin
title_full Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin
title_fullStr Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin
title_full_unstemmed Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin
title_short Neonatal Hemochromatosis: Treatment with Exchange Transfusion and Intravenous Immunoglobulin
title_sort neonatal hemochromatosis treatment with exchange transfusion and intravenous immunoglobulin
topic hemochromatosis
liver failure
gestational alloimmune liver disease
immunoglobulin
exchange transfusion
url https://journals.lww.com/10.2991/dsahmj.k.210715.001
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AT abdulrahmanalzahrani neonatalhemochromatosistreatmentwithexchangetransfusionandintravenousimmunoglobulin
AT mohamedabdoun neonatalhemochromatosistreatmentwithexchangetransfusionandintravenousimmunoglobulin
AT syedanaqvi neonatalhemochromatosistreatmentwithexchangetransfusionandintravenousimmunoglobulin
AT georgesenawfal neonatalhemochromatosistreatmentwithexchangetransfusionandintravenousimmunoglobulin