Published online 30 January 2009
Haematologica, Vol 94, Issue 3, 395-408 doi:10.3324/haematol.13619
Copyright © 2009 by Ferrata Storti Foundation
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Review Article

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

Achille Iolascon1, Luigia De Falco1, Carole Beaumont2

1 Chair of Medical Genetics, Department of Biochemistry and Medical Biotechnologies, University Federico II, Naples and CEINGE, Advanced Biotechnologies, Naples, Italy and
2 INSERM U773, CRB3; Université Paris Diderot, site Bichat, Paris, France

Correspondence: Achille Iolascon, Chair of Medical Genetics, Dept. of Biochemistry and Biomedical Technologies, Advanced Biotechnologies, CEINGE University Federico II, Naples, Italy. E-mail:iolascon{at}dbbm.unina.it

Microcytic anemia is the most commonly encountered anemia in general medical practice. Nutritional iron deficiency and β thalassemia trait are the primary causes in pediatrics, whereas bleeding disorders and anemia of chronic disease are common in adulthood. Microcytic hypochromic anemia can result from a defect in globin genes, in heme synthesis, in iron availability or in iron acquisition by the erythroid precursors. These microcytic anemia can be sideroblastic or not, a trait which reflects the implications of different gene abnormalities. Iron is a trace element that may act as a redox component and therefore is integral to vital biological processes that require the transfer of electrons as in oxygen transport, oxidative phosphorylation, DNA biosynthesis and xenobiotic metabolism. However, it can also be pro-oxidant and to avoid its toxicity, iron metabolism is strictly controlled and failure of these control systems could induce iron overload or iron deficient anemia. During the past few years, several new discoveries mostly arising from human patients or mouse models have highlighted the implication of iron metabolism components in hereditary microcytic anemia, from intestinal absorption to its final inclusion into heme. In this paper we will review the new information available on the iron acquisition pathway by developing erythrocytes and its regulation, and we will consider only inherited microcytosis due to heme synthesis or to iron metabolism defects. This information could be useful in the diagnosis and classification of these microcytic anemias.

Key words: anemia, microcytosis, iron, red blood cells, heme.




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