Anemias raras y fallos medulares hereditarios

Rare anemias and inherited bone marrow failure syndromes are characterized, respectively, by decreased concentrations of hemoglobin or defects in the production of hematopoietic cells leading to single to multiple lineage cytopenias. They are rare and difficult to diagnose due to clinical, cytological and genetic heterogeneity. In this paper, we first address the diagnosis of rare anemias and their causes including marrow failures, erythrocyte defects and disorders of red cell metabolism factors involved in erythrocyte maturation. Finally, we introduce inherited bone marrow failure syndromes and their associated pathologies such as congenital malformations and tumor predisposition, with particular emphasis on the most common diseases: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia and Shwachman-Diamond syndrome.