HMA-IRON

We have put up a consortium of four partners from France, Italy, Germany and Spain to work on rare genetic microcytic hypochromic anemias due to defects in iron homeostasis or iron acquisition by erythroid precursors. The participants of this project have a long-standing interest in iron metabolism and related genetic disorders. The specific objectives of the project are 1. to recruit new patients with rare congenital microcytic anemias related to iron disorders in order to define new clinical entities, to delineate the clinical and biological phenotypes of these rare anemias and to provide therapeutical guidelines 2. to identify causative genes underlying the anemia by different strategies including sequencing of candidate genes, positional cloning or global siRNA screening. Thereby, we expect to discover new genes important for iron acquisition by erythroid cells. Combined with the previous clinical definitions, this will allow genotype/phenotype studies of these rare anemias 3. to perform functional studies on known candidate genes involved in rare inherited microcytic anemias, or on the newly identified genes, to improve our understanding of their role in iron metabolism.