Rare anemias and hereditary bone marrow failure

Joan Lluis Vives Corrons, Maria del Mar Mañú Pereira, Juan Pablo Trujillo, Jordi Surrallés, Julián Sevilla

Research output: Contribution to journalArticleResearchpeer-review

Abstract

© 2018 CSIC. 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.
Original languageEnglish
Article numbera463
JournalArbor
Volume194
Issue number789
DOIs
Publication statusPublished - 1 Jul 2018

Keywords

  • Congenital dyskeratosis
  • Diamond-Blackfan anemia
  • Erythrocyte
  • Fanconi anemia
  • Ferropenic anemia
  • Hemoglobin
  • Rare anemias
  • Shwachman-Diamond syndrome
  • Thalassemia

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