Fanconi anemia classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]
Overview
Fanconi anemia is currently classified by complementation group.
Classification
Fanconi anemia is a heterogenous disease from a genetic standpoint. Fanconi anemia is currently classified by complementation group. The four subtypes of Fanconi anemia can be discerned by somatic cell hybridization studies.[1] This concept is based on the fact that at least four different genes function in concert to support normal hematopoiesis in healthy persons.[1] The four subclasses of Fanconi anemia are:
- FA-A
- FA-B
- FA-C: This class of Fanconi anemia is characterized by a gene that encodes for a protein with unknown function, though it is known to localize to the cytoplasm. Six variants have been found in FA-C, and these are associated with disease.[1] Approximately 8% of people with Fanconi anemia belong to complementation group C.
- FA-D