Fanconi’s anemia-false is-
**Question:** Fanconi's anemia-false is-
A. Disorder affecting DNA repair
B. Connective tissue disease
C. Autoimmune disorder
D. Leukemia
**Core Concept:**
Fanconi's anemia is a rare genetic disorder characterized by progressive bone marrow failure, increased chromosomal breaks, and an increased risk of cancer, particularly acute myeloid leukemia (AML). This condition is associated with defects in DNA repair pathways, particularly the Fanconi Anemia/BRCA pathway.
**Why the Correct Answer is Right:**
Fanconi's anemia is classified as a "false-negative" condition, meaning that it is characterized by a normal blood cell count or mild symptoms at the early stages. This makes it difficult to diagnose solely based on clinical features. However, the correct answer (A) refers to disorders affecting DNA repair, which is the fundamental pathophysiology of Fanconi's anemia. In this case, the condition involves defects in the Fanconi Anemia/BRCA pathway, leading to increased chromosomal breaks and bone marrow dysfunction.
**Why Each Wrong Option is Incorrect:**
A. Disorder affecting DNA repair (correct)
B. Connective tissue disease (incorrect) - Fanconi's anemia is not a connective tissue disorder but a genetic disorder affecting DNA repair.
C. Autoimmune disorder (incorrect) - Fanconi's anemia is not an autoimmune disorder; it is a genetic disorder.
D. Leukemia (incorrect) - While Fanconi's anemia increases the risk of leukemia, specifically AML, it is not the disease itself.
**Clinical Pearl:**
It is essential to consider genetic disorders like Fanconi's anemia when assessing patients with unexplained bone marrow failure or chromosomal abnormalities, especially in the presence of a family history of similar disorders. Early diagnosis and genetic counseling can be beneficial for affected individuals and their families.
**Correct Answer:**
A. Disorder affecting DNA repair (Fanconi's anemia)