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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

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...

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Detalles Bibliográficos
Autores principales: Roy, Noémi B. A., Babbs, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519365/
https://www.ncbi.nlm.nih.gov/pubmed/30836435
http://dx.doi.org/10.1111/bjh.15817
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author Roy, Noémi B. A.
Babbs, Christian
author_facet Roy, Noémi B. A.
Babbs, Christian
author_sort Roy, Noémi B. A.
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description 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.
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spelling pubmed-65193652019-05-23 The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I Roy, Noémi B. A. Babbs, Christian Br J Haematol Reviews 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. John Wiley and Sons Inc. 2019-03-05 2019-05 /pmc/articles/PMC6519365/ /pubmed/30836435 http://dx.doi.org/10.1111/bjh.15817 Text en © 2019 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Reviews
Roy, Noémi B. A.
Babbs, Christian
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
title The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
title_full The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
title_fullStr The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
title_full_unstemmed The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
title_short The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
title_sort pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type i
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519365/
https://www.ncbi.nlm.nih.gov/pubmed/30836435
http://dx.doi.org/10.1111/bjh.15817
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