D46.0-2/D46.4-7/D46.9
DESCRIPTION
A group of disorders characterised by refractory cytopaenias due to bone marrow failure. There is a risk of disease progression to acute leukaemia.
Investigations
- Evidence of cytopenia, with normal B12 and folate levels, and often substantial morphological dysplasia on the blood smear.
- Bone marrow examination confirms dysplasia of the blood elements and the presence of cytogenetic abnormalities.
TREATMENT
Transfusion should ideally be with leucodepleted red cells to delay immunisation, as these patients require frequent transfusions.
Bone marrow transplantation can be curative in selected patients.
If neutropenic and febrile, see Febrile neutropenia.
REFERRAL
All patients for further investigation and management.