Home > D. Systemic pathology > Genetic and developmental anomalies > aceruloplasminemia
aceruloplasminemia
MIM.604290 3q23-q24
Tuesday 5 August 2008
Aceruloplasminemia involves a loss of plasma ferroxidase activity, which (like the loss of ferroportin activity) impairs cellular iron efflux, sometimes provoking hypochromic microcytic anemia.
Iron accumulates in various organs, including the liver, but brain involvement predominates, and the presentation almost invariably involves neurologic abnormalities.
Aceruloplasminemia differs from Wilson disease, in which hypoceruloplasminemia, when present, is secondary to a copper-transport defect in the liver.
As for atransferrinemia or hypotransferrinemia, it dramatically impairs plasma iron transport and the delivery of iron to the bone marrow.
Its main feature is severe anemia; iron overload in the tissues results from compensatory increases in intestinal iron absorption.
Excess tissue iron has also been attributed to a mutation in the regulatory region of H ferritin, but this single observation awaits validation.
Finally, there is the combination of massive hepatic iron loading and perinatal liver failure that is often referred to as "neonatal hemochromatosis" and is usually fatal.
Its hereditary nature is uncertain, although familial cases have been described.
Etiology
Aceruloplasminemia is caused by mutation in the gene encoding ceruloplasmin ( CP ) (MIM.117700).