# Diagnosing Fanconi Anemia: A Rare Case Report From Rural India

## TL;DR

This paper reports a rare case of Fanconi anemia from rural India, highlighting its diagnostic challenges and clinical features.

## Contribution

The paper presents a new case report of Fanconi anemia from a rural Indian setting.

## Key findings

- Fanconi anemia was diagnosed using a Chromosomal Breakage Study with mitomycin C or diepoxybutane.
- The case exhibited typical clinical features of Fanconi anemia, including congenital malformations and pancytopenia.

## Abstract

Fanconi anemia is a rare but most prevalent form of inherited aplastic anemia, predominantly transmitted in an autosomal recessive manner, except for one X-linked variant. It arises from mutations in the genes across 16 different complementation groups that are crucial for DNA stability. It is marked by a wide range of congenital malformations, progressive pancytopenia, and an increased risk of both hematological malignancies and solid tumors. The congenital abnormalities associated with it can affect various organ systems, including the skeletal system, with significant variability among patients. One similar case has been reported here, which had the typical clinical features of FA. Due to varied phenotypic presentation, diagnosing FA can be challenging. A Chromosomal Breakage Study using mitomycin C (MMC) or diepoxybutane (DEB) is a distinctive cellular marker that aids in the diagnosis.