Fanconi anemia classification: Difference between revisions
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*'''FA-A''' | *'''FA-A''' | ||
*'''FA-B''' | *'''FA-B''' | ||
*'''FA-C''': This gene 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.<ref name="pmid7662964">{{cite journal| author=Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T et al.| title=Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. | journal=Blood | year= 1995 | volume= 86 | issue= 6 | pages= 2156-60 | pmid=7662964 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7662964 }} </ref> Approximately 8% of people with Fanconi anemia belong to complementation group C. | *'''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.<ref name="pmid7662964">{{cite journal| author=Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T et al.| title=Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. | journal=Blood | year= 1995 | volume= 86 | issue= 6 | pages= 2156-60 | pmid=7662964 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7662964 }} </ref> Approximately 8% of people with Fanconi anemia belong to complementation group C. | ||
*'''FA-D''' | *'''FA-D''' | ||
==References== | ==References== |
Latest revision as of 04:23, 29 April 2019
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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