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Fanconi’s Anaemia Pathway

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Description

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’sAnemia, named for Swiss pediatrician, Guido Fanconi) and DC (DyskeratosisCongenita) (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) and squamous [...]

References:

1.Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA.
Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Review.
2.Genetic predispositions to childhood leukemia.
Stieglitz E, Loh ML.
Ther Adv Hematol. 2013 Aug;4(4):270-90. doi: 10.1177/2040620713498161.
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