Congenital microcytic anemias due to iron metabolism disturbances

Haema 2016; 7(3): 278-283

by Antonis Kattamis1, Helen Atmatzidou2, Mary Moraki2, Dimitra Kyriakopoulou2

1Associate. Professor of Pediatric Haematology-Oncology,
2Scientific assistant First Department of Pediatrics, University of Athens, ‘Aghia Sofia’ Children’s Hospital, Athens, Greece

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Abstract

Congenital microcytic anemias caused by disorders of iron metabolism consist a large group of hereditary disorders with significant clinical heterogeneity. These anemias can be distinguished as nosideroblastic and sideroblastic. These disorders are quite rare, but it should be taken into account in the differential diagnosis of patients with persistent microcytic anemia, which either do not respond to appropriate treatment or is associated with signs of iron accumulation, suggestive of inability to utilize existing iron. The occurrence of signs or symptoms from other organs like the skin, liver, nervous system and endocrine glands needs to be taken into consideration . The understanding of pathogenetic mechanism underlying these clinical entities is expanding and is contributing to more efficacious treatment.