New aspects of copper and iron metabolism in the myelodysplastic syndromes.

BACKGROUND: Myelodysplastic syndrome (MDS) is an iron overload condition. Copper deficiency itself might induce dysplastic changes and iron overload. The relationship between the iron and copper metabolism is analyzed in MDS patients.

METHODS: Copper, iron and ceruloplasmin levels were established, and transferrin saturation determination and HFE mutation analysis were performed in 32 MDS patients.

RESULTS: Eleven of 32 MDS patients were copper deficient. A decreased copper level occurred together with a significantly elevated iron level and transferrin saturation and in 45% HFE gene mutation. In the normal copper group, twice as many patients had a decreased rather than an elevated iron content and carried the wild-type HFE gene rather than the mutant.

CONCLUSIONS: Copper deficiency is a frequent finding in MDS. It is desirable to include copper level determination in the initial workup of MDS.