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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Fanconi anemia classification

Introduction

Overview

Overview

Fanconi anemia is currently classified by complementation group.

Classification

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

References

  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.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]