Bone Marrow Failure


Bone marrow failure implies loss of blood cell production due to primary failure of haematopoiesis in the absence of malignant infiltration. Aplastic anaemia, acquired or congenital, is the typical syndrome with loss of bone marrow cellularity but there is overlap with myelodysplastic syndromes.

Keywords: aplastic anaemia; myelodysplasia; fanconi anaemia; congenital cytopenias

Figure 1.

The bone marrow in aplastic anaemia (a) aspirate with fragment of open, lacy structure. (b) Trephine. Fat cells replace most haematopoietic tissue but some islands (hot spots) remain (arrow).

Figure 2.

Immunosuppressive treatment of severe aplastic anaemia (Bacigalupo et al.). (a) Survival curves showing the effect of age. Data from the European Group for Blood and Marrow Transplantation Registry. (b) Relapse or clonal evolution after successful immunosuppressive treatment, leading to return to transfusion requirement. (Schrezenmeier et al., ).

Figure 3.

Outcome of HLA‐identical sibling stem cell transplant for aplastic anaemia, showing effect of age on survival. Data from the European Group for Blood and Marrow Transplantation, SAA Working Party (Bacigalupo et al.).

Figure 4.

Probability of survival after allogeneic stem cell transplants for Fanconi anaemia by donor type and age (1994–1999). Data from the International Bone Marrow Transplant Registry IBMTR, with permission.

Figure 5.

Diagram to indicate overlap syndromes in bone marrow failure. AA, aplastic anaemia; MDS, myelodysplastic syndromes; AML, acute myeloid leukaemia; MPD, myeloproliferative disorders; PNH, paroxysmal nocturnal haemoglobinuria. The numbers and symbols refer to some of the cytogenetic abnormalities which may appear in different clinical manifestations.



Bacigalupo A, Brand R, Oneto R et al. (2000) Treatment of acquired severe aplastic anaemia: bone marrow transplantation compared with immunosuppressive therapy – The European Group for Blood and Marrow Transplantation experience. Seminars in Hematology 37: 69–80.

Bennett JM, Catovsky D, Daniel MT et al. (1982) FAB co‐operative group. Proposal for the classification of the myelodysplastic syndromes. British Journal of Haematology 51: 189–199.

de Planque MM, Kluin‐Nelemans HC, van Krieken HJM et al. (1988) Evolution of acquired aplastic anaemia to myelodysplasia and subsequent leukaemia in adults. British Journal of Haematology 73: 121–126.

Faivre L, Guardiola P, Lewis C et al. (2000) The European Fanconi Anaemia Research Group. Association of complementation Group and mutation type with clinical outcome in Fanconi anaemia. Blood 96: 4064–4069.

Heimpel H (2000) Epidemiology and etiology of aplastic anemia. In: Schrezenmeier Hand Bacigalupo A (eds) Aplastic Anemia: Pathophysiology and Treatment, pp. 97–116. Cambridge: Cambridge University Press.

Marsh JCW, Chang J, Testa NG et al. (1991) In vitro assessment of marrow ‘stem cell’ and stromal function in aplastic anaemia. British Journal of Haematology 78: 258–267.

Schrezenmeier H, Marin P, Raghavachar A et al. (1993) Relapse of aplastic anaemia after immunosuppressive treatment: a report from the European Bone Marrow Transplantation Group SAA Working Party. British Journal of Haematology 34: 371–377.

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Young NS and Maciejewski J (1997) The pathophysiology of acquired aplastic anemia. New England Journal of Medicine 336: 1365–1372.

Further Reading

Ades L, Mary JY and Robin M (2004) Long‐term outcome after bone marrow transplantation for severe aplastic anemia. Blood 103: 2490–2497.

Barrett J, Saunthararajah Y and Molldrem J (2000) Myelodysplastic syndrome and aplastic anemia: distinct entities or diseases linked by a common pathophysiology?. Seminars in Hematology 37: 15–29.

Charles RJ, Sabo KM, Kidd PG and Abkowitz JL (1996) The pathophysiology of pure red cell aplasia: implications for therapy. Blood 87: 4831–4838.

Killick SB and Marsh JC (2000) Aplastic anaemia: management. Blood Reviews 14: 157–171.

Marsh JC, Ball SE, Darbyshire P et al. British Committee for Standards in Haematology (2003) Guidelines for the diagnosis and management of acquired aplastic anaemia. British Journal of Haematology 123: 782–801.

Schrezenmeier Hand Bacigalupo A (eds) (2000) Aplastic Anaemia, Pathophysiology and Treatment. Cambridge: Cambridge University Press.

Socie G, Rosenfeld S, Frickhofen N, Gluckman E and Tichelli A (2000) Late clonal diseases of treated aplastic anaemia. Seminars in Hematology 37: 91–101.

Storb R, Leisenning W, Anasetti C et al. (1997) Long term follow up of allogeneic marrow transplants in patients with aplastic anaemia conditioned with cyclophosphamide with antithymocyte globulin. Blood 89: 3890–3901.

Young NS and Alter BP (1994) Aplastic Anaemia Acquired and Inherited. Philadelphia: WB Saunders.

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How to Cite close
Gordon‐Smith, Edward C(Jan 2006) Bone Marrow Failure. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0002152]