Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

ABSTRACT:

Background & aims

Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 encodes a cellular iron exporter expressed in macrophages, enterocytes, and hepatocytes. The aim of the analysis is to determine the penetrance of SLC40A1 mutations and to evaluate in silico tools to predict the functional impairment of ferroportin mutations as an alternative to in vitro studies.

Methods

We conducted a systematic review of the literature and meta-analysis of the biochemica

SUBMITTER: Mayr R 

PROVIDER: S-EPMC2956830 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature