Neonatal hemochromatosis

Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins

“…18 His treatment was complicated by at least 2 episodes of bacterial sepsis ascribed to the deferoxamine therapy. 1 He ultimately recovered enough be discharged from the hospital at 3 months of age, at which time his ␣-fetoprotein (AFP) was 120 630 ng/mL and international normalized ratio (INR) was 1.79. At his 1-year follow-up, he had normal growth and development and his liver function had returned to normal (as shown in Table 1), although he had some residual hepatosplenomegaly.…”

“…The accepted level of abnormality of ferritin warranting consideration of NH is 800 ng/mL. 1,22,23 The normal pattern of changing expression of AFP in the nearterm infant requires careful consideration of gestational age when interpreting test results. 24,25 Normal values for term neonates are Յ20 000 ng/mL, whereas to be considered as clearly abnormal, values must exceed 84 000 ng/mL in term infants and 200 000 ng/mL in 32-weeks-gestation premature infants.…”

“…17,20,29 In addition, the use of the cocktail is not without risk, particularly the risk of sepsis with deferoxamine. 1 Fully 50% of newborns we have treated with this cocktail have developed bacterial sepsis. Thus, we suggest that its use be reserved for infants with significantly impaired liver function (ie, INR Ͼ 1.8, persistent hypoglycemia) and that infants with evidence of NH but no hepatic dysfunction receive vitamin E alone.…”

“…1 The diagnosis is established by demonstrating siderosis of extrahepatic tissues, most prominently epithelia of the exocrine pancreas, thyroid follicles, and oral mucosal ("minor salivary") glands. [2][3][4] The mechanisms of liver injury and diffuse siderosis are not fully understood.…”

Of mice and men: genetic determinants of iron status

“…Neonatal haemochromatosis is a unique and rare form of Fe overload, characterised by early liver failure in association with Fe deposition in a variety of organs (Knisely, 1992). The onset of the disorder normally presents itself in the third trimester of pregnancy, perinatally or in early infancy.…”