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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
Author(s) -
Roy Noémi B. A.,
Babbs Christian
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15817
Subject(s) - ineffective erythropoiesis , pathogenesis , erythropoiesis , medicine , disease , bone marrow , allele , bioinformatics , genetic testing , immunology , intensive care medicine , anemia , genetics , biology , gene
Summary Congenital dyserythropoietic anaemia type I (CDA‐I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA‐I is caused by bi‐allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative mutations have been documented. The diagnostic pathway is reviewed and the utility of genetic testing in reducing the time taken to reach an accurate molecular diagnosis and avoiding bone marrow aspiration, where possible, is described. The management of CDA‐I patients is discussed, highlighting both general and specific measures which impact on disease progression. The use of interferon alpha and careful management of iron overload are reviewed and suggest the most favourable outcomes are achieved when CDA‐I patients are managed with a holistic and multidisciplinary approach. Finally, the current understanding of the molecular and cellular pathogenesis of CDA‐I is presented, highlighting critical questions likely to lead to improved therapy for this disease.