Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

Fanconi Anemia is classified as an autosomal recessive genetic disorder. This means that an individual must inherit two copies of the mutated gene—one from each parent—to exhibit the characteristics of the disease. Carriers, who possess only one copy of the mutated gene, typically do not show symptoms but when two carriers have children, there is a 25% chance that their offspring will have the disorder.

This classification is important in understanding the inheritance patterns and risks associated with the genetic disorder. Autosomal recessive disorders often arise from mutations in genes that are crucial for DNA repair mechanisms. In the case of Fanconi Anemia, defective DNA repair can lead to increased sensitivity to DNA cross-linking agents, potential bone marrow failure, and a heightened risk of malignancies.

The other classifications, such as dominant traits or X-linked conditions, apply to different mechanisms of genetic inheritance and do not appropriately describe Fanconi Anemia's profile. Dominant conditions require only one mutated allele for expression, while X-linked disorders involve genes on the X chromosome and typically affect males more significantly than females. Chromosomal disorders refer to disorders caused by abnormalities in chromosome number or structure, which is not the underlying mechanism in Fanconi Anemia.