Mendelian inheritance of anemia due to disturbed iron homeostasis

Genetic disorders that affect proteins involved in maintaining iron balance may lead to Mendelian anemias. They may be classified as defects of intestinal iron absorption, iron transport in the circulation, iron uptake and utilization by maturing erythroid cells, iron recycling by macrophages and systemic regulation of iron homeostasis. All these Mendelian anemias are rare disorders, prevalently recessive, characterized by microcytic and hypochromic red blood cells. Advances in our knowledge of iron metabolism and its systemic regulation on one side have facilitated the identification of novel iron related anemias, while on the other the study of the affected patients and of the corresponding animal models have contributed to our understanding of iron trafficking and regulation.