Abstract：
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.
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.
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.
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.
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.
摘要：
新生儿血色素沉着症会在新生儿期引起急性肝功能衰竭，主要是由于妊娠同种免疫性肝病（GALD）。地中海贫血引起溶血性贫血和由于珠蛋白基因突变而导致的无效红细胞生成。虽然新生儿血色素沉着病和地中海贫血有完全不同的病因，这些疾病的共存可以协同加剧铁过载。我们报告说，患有εγδβ地中海贫血的新生儿发展为新生儿血色素沉着病，对铁螯合剂没有反应并迅速恶化，需要活体肝移植.
一名患有溶血性贫血和靶向红细胞的1天大的日本男孩通过基因检测被诊断为εγδβ地中海贫血，需要频繁的红细胞输血.出生后2个月，黄疸加重，灰白色凳子,并观察到高血清铁蛋白水平，肝活检显示肝细胞和枯否细胞中铁沉积。磁共振成像扫描显示肝脏中的铁沉积物，脾,脾胰腺,还有骨髓.给予的红细胞输血总量不符合输血后铁超负荷的标准。开始服用铁螯合剂，但是铁超负荷迅速发展为肝功能衰竭，而黄疸和肝功能损害没有改善。他接受了母亲的活体肝移植,之后铁过载消失了，并且没有观察到铁过载的复发。肝脏中C5b-9的免疫组织化学染色为阳性。在活体肝移植之前，血清hepcidin水平较低，血清生长分化因子15水平较高。
我们报道了患有εγδβ-地中海贫血的婴儿由于GALD而发展为NH，除红细胞输注外，无效红细胞生成的共存可能加剧了铁超负荷。低血清铁调素水平，在这种情况下,可能是由于新生儿血色素沉着症引起的胎儿肝损伤引起的铁调素产生减少，以及由于在地中海贫血中观察到的无效造血而导致的铁调素抑制造血介质增加。
一名患有溶血性贫血和靶向红细胞的1天大的日本男孩通过基因检测被诊断为εγδβ地中海贫血，需要频繁的红细胞输血.出生后2个月，黄疸加重，灰白色凳子,并观察到高血清铁蛋白水平，肝活检显示肝细胞和枯否细胞中铁沉积。磁共振成像扫描显示肝脏中的铁沉积物，脾,脾胰腺,还有骨髓.给予的红细胞输血总量不符合输血后铁超负荷的标准。开始服用铁螯合剂，但是铁超负荷迅速发展为肝功能衰竭，而黄疸和肝功能损害没有改善。他接受了母亲的活体肝移植,之后铁过载消失了，并且没有观察到铁过载的复发。肝脏中C5b-9的免疫组织化学染色为阳性。在活体肝移植之前，血清hepcidin水平较低，血清生长分化因子15水平较高。
我们报道了患有εγδβ-地中海贫血的婴儿由于GALD而发展为NH，除红细胞输注外，无效红细胞生成的共存可能加剧了铁超负荷。低血清铁调素水平，在这种情况下,可能是由于新生儿血色素沉着症引起的胎儿肝损伤引起的铁调素产生减少，以及由于在地中海贫血中观察到的无效造血而导致的铁调素抑制造血介质增加。
