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Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators.

Mitsuru TsugeAya KoderaHiromi SumitomoTooru ArakiRyuichi YoshidaKazuya YasuiHiroki SatoYosuke WashioKana WashioKenji ShigeharaMasato YashiroTakahito YagiHirokazu Tsukahara
Published in: BMC pediatrics (2022)
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.
Keyphrases
  • iron deficiency
  • sickle cell disease
  • bone marrow
  • oxidative stress
  • room temperature