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Fanconi’s Anaemia Pathway

This image is a scaled-down version of the actual pathway image. It does not contain any links to the protein information pages.


A number of inherited (constitutional/genetic) disorders are characterized by BM (Bone Marrow) failure usually in association with one or more somatic abnormality. The BM failure may involve all or a single lineage; in some cases it may be initially associated with a single peripheral cytopenia and then progress to pancytopenia. Scientifically, they constitute an exciting group of disorders and the two syndromes that are frequently associated with generalized BM failure are FA (Fanconi’s Anemia, named for Swiss pediatrician, Guido Fanconi) and DC (Dyskeratosis Congenita) (Ref.1). FA is a rare autosomal recessive chromosome instability disorder clinically characterized by developmental defects, progressive BM failure, progressive AA (Aplastic Anemia), diverse congenital anomalies and an increased predisposition to malignancy, especially AML (Acute Myeloid Leukemia) [...]


1.Inherited aplastic anaemia.
Dokal I.
Hematol J. 2003; 4(1): 3-9.
2.Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm.
Huck K, Hanenberg H, Gudowius S, Fenk R, Kalb R, Neveling K, Betz B, Niederacher D, Haas R, Gobel U, Kobbe G, Schindler D.
Br J Haematol. 2006 Apr;133(2):188-97.
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