Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia

Aplastic anemia (AA) is a rare disorder characterized by pancytopenia and bone marrow failure. The majority of severe aplastic anemia (SAA) cases are acquired immune-mediated, or sometimes triggered by known environmental or toxic exposures (Miano and Dufour 2015). Inherited forms of bone marrow failure do exist, such as Fanconi anemia (FA) which is the most common. FA is due to pathogenic germline variants in one of 22 FA/BRCA DNA repair pathway genes (so far 20 autosomal recessive, one X-linked, one autosomal dominant), resulting in defects in DNA damage repair, specifically the inability to repair inter-strand cross links (Nalepa and Clapp 2018).

Source: Biology of Blood and Marrow Transplantation - January 22, 2020 Category: Hematology Authors: Lisa J. McReynolds, Youjin Wang, Ashley S. Thompson, Bari J. Ballew, Jung Kim, Blanche P. Alter, Belynda Hicks, Bin Zhu, Kristine Jones, Stephen R. Spellman, Tao Wang, Stephanie J. Lee, Sharon A. Savage, Shahinaz M. Gadalla Source Type: research