When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature

摘要

This case report describes a newborn girl born with non-immune hydrops fetalis with bicytopenia and elevated iron indexes. A genetic study which was done revealed a positive result for the H63D homozygous mutation. Iron overload is rare in patients homozygous for the H63D mutation because of its variable penetrance, especially in the neonatal period. The possibility of neonatal hemochromatosis (NH) on top of positive results for hereditary hemochromatosis (HH) was anticipated. Despite all the recommended healthcare measurements being provided for both diagnoses, the child developed liver failure of unspecified etiology and was deceased afterward.