Article
Rare anemias due to genetic iron metabolism defects.
Mutation research. Reviews in mutation research - 1 Jan 2000
Brissot Pierre, Bernard Delphine G, Brissot Eolia, Loréal Olivier, Troadec Marie-Bérengère
Abstract excerpt
Anemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in the blood. It can be due to multiple causes, either acquired or genetic. Alterations of genes involved in iron metabolism may be responsible, usually at a young age, for rare forms of chronic and often severe congenital anemia. These diseases encompass a variety of sideroblastic anemias, characterized by the presence of...
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