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Aplastic anaemia and pure red cell aplasia 

Chapter:
Aplastic anaemia and pure red cell aplasia
Author(s):

Judith C.W. Marsh

, Austin Kulasekararaj

, and Ghulam J. Mufti

DOI:
10.1093/med/9780199204854.003.220311_update_001

August 28, 2014: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

Update:

This chapter has been completely rewritten (Nov 2012), to reflect in particular an increased awareness of inherited forms of AA/bone marrow failure (BMF) disorders, better understanding of the immunological changes that occur in acquired, immune-mediated AA showing the important role of CD4+ T-cells in the pathogenesis, improved clinical outcomes following haemopoietic stem cell transplantation (HSCT) for severe AA, updated information on the clinical investigation of pure red cell aplasia (PRCA), and recent changes in treatment approach to acquired PRCA, and recent advances in detection of molecular and genetic changes that are found in inherited BMF disorders.

Updated on 30 May 2013. The previous version of this content can be found here.
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date: 28 April 2017

Aplastic anaemia (AA)

Aplastic anaemia (AA) is a rare bone marrow failure (BMF) disorder characterized by pancytopenia and a hypocellular bone marrow. AA is commonly acquired, immune-mediated and idiopathic in nature.

Activate auto-reactive, cytotxic CD8+ T-cells are present but recent work has shown that CD4+ T-cells appear to be more important in the pathogenesis of acquired AA. The immune nature of acquired AA provides the rationale for one of the treatment options, namely immunosuppressive therapy.

First line treatment of acquired AA is either immunosuppressive therapy (IST) with antithymocyte globulin (ATG) and ciclosporin or allogeneic haemopoietic stem cell transplantation (HSCT). Both modalities offer excellent survival. Patients treated with IST are at later risk of relapse and clonal evolution to myelodysplastic syndrome (MDS) and acute myeloid leukaemia, so require long term follow up. HSCT if successful is curative, but risks include graft rejection, infections and graft versus host disease (GVHD); recent changes to the transplant conditioning regimen have reduced the GVHD risk.

There is increasing awareness of inherited AA which may present not only in childhood with somatic anomalies, but also in adulthood. Adults with later onset inherited AA often lack the somatic anomalies seen in children resulting frequently in delayed diagnosis and/or misdiagnosis as acquired AA.

The inherited forms of AA include Fanconi anaemia, a disorder of DNA repair, dyskeratosis congenita, a disorder of telomere maintenance, and Shwachman-Diamond syndrome, one of the so-called ribosomopathies characterized by defective ribosomal biogenesis.

Pure red cell aplasia (PRCA)

Pure red cell aplasia (PRCA) is a form of BMF characterized by severe anaemia with reticulocytopenia and reduced erythroid progenitors in the bone marrow. PRCA most commonly is an acquired disorder and immune mediated, and often occurs in association with a wide range of conditions.

Diamond Blackfan anaemia (DBA), an inherited form of PRCA, is another example of a ribosomopathy, and is caused by mutations in one of many ribosomal protein genes, resulting in haploinsufficiency.

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