Inherited Bone Marrow Failure Syndromes with Pancytopaenia - European Medical Journal


Inherited Bone Marrow Failure Syndromes with Pancytopaenia

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*Sophia Delicou,1 Marianna Bellia,1 Theoni Kanellopoulou,1 Chryssanthi Kontaxi,1 Apostolos Zografakis,2 Konstantinos Maragkos1

The authors declare no potential conflict of interest.

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Bone marrow failure (BMF) is characterised by a reduction in the effective production of mature erythrocytes, granulocytes, and platelets by the bone marrow that leads to peripheral blood pancytopaenia. In some conditions, only one or two cell lines may be affected. The BMF syndromes include a group of disorders than can be either inherited or acquired. The inherited BMF syndromes include: Fanconi anaemia, dyskeratosis congenita, Diamond-Blackfan anaemia, and other genetic disorders. The most common cause of acquired BMF is aplastic anaemia.

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