[Staining for iron].

A primary mitochondrial defect may be pivotal in the pathogenesis of acquired idiopathic sideroblastic anemia (AISA). The mitochondrial respiratory chain is involved in mitochondrial iron uptake and supply of ferrous iron (Fe2+) for heme synthesis. Mitochondrial DNA (mtDNA) comes into play because several subunits of the respiratory chain are encoded by the mitochondrial genome. We have identified heteroplasmic mutations of mtDNA, which may not only impair mitochondrial iron metabolism and heme synthesis, but through impairment of mitochondrial energy production may have much broader implications for MDS pathogenesis. For example, increased apoptosis and genetic instability may be phenomena linked to mitochondrial dysfunction.

Anemia, Sideroblastic↗

PubMed1999

Inborn errors of metabolism: iron.

The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport across membranes are only now being investigated. Relatively few genetic disorders affecting iron metabolism are known and most are rare. This paper briefly describes pyridoxine responsive sideroblastic anaemia, hyperferritinaemia-cataract syndrome, atransferrinaemia and genetic haemochromatosis. Rather than rare, the latter is one of the most common inherited disorders in northern European populations. Mutations in genes regulating membrane iron transport causing simple iron deficiency have not yet been described.

Anemia, Sideroblastic↗