Introduction Ferritin is commonly used to estimate iron stores – but its strength also can diagnose rarer and more severe pathologies and then guide the emergency treatment
Material and method A little girl of 45 days is admitted for pallor, fatigue and failure to gain weight. Laboratory tests reveal a rapidly worsening hepatitis with growing signs of liver failure. Her Alpha -fetoprotein is 64,000 IU while serum ferritin > 2000 ng/ml. The most likely diagnosis, neonatal hemochromatosis, required to initiate combination therapy with vitamin E and N- acetylcysteine, NAC. After 2 months of treatment, there are no more stigmata of liver failure; AFP is 3200 IU and ferritin = 632 ng/ml.
Results and discussion This case illustrate, among others, the outstanding interests of ferritin dosage in such situations with high morbidity/mortality, requiring a battery of specialised explorations that are not always accessible in ressource limited areas.
In fact, iron overload is characteristic of this immune-mediated condition with specific MRI findings in salivary glands and liver.
Gathering laboratory results to history and clinical examination would improve the sensibility and specificity of ferritinemia for this highly dangerous disease and allow decisive therapeutic decisions.
Conclusion In addition to its "traditional" interest in deficits or iron overload, ferritin may offer some beneficial major diagnostic benefits for life threatening cases like perinatal hemochromatosis.