Fanconi anemia classification

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

References

↑ ^1.0 ^1.1 ^1.2 Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T; et al. (1995). “Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype”. Blood. 86 (6): 2156–60. PMID 7662964.

[pmid7662964-1] 1.0 ^1.1 ^1.2 Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T; et al. (1995). “Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype”. Blood. 86 (6): 2156–60. PMID 7662964.

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