# Hereditary Hemochromatosis and Polydactyly: A Case Report

## TL;DR

A young male with a family history of polydactyly was diagnosed with hereditary hemochromatosis due to the H63D homozygous mutation, leading to elevated iron levels and joint pain.

## Contribution

This case report highlights the rare occurrence of H63D homozygous mutation in a patient with a polydactyly family history.

## Key findings

- The patient had elevated serum iron, transferrin saturation, and ferritin levels.
- HFE genetic testing confirmed the H63D homozygous mutation.
- The patient and relatives underwent genetic counseling and screening.

## Abstract

Hereditary hemochromatosis is a genetic disorder caused by mutations in genes regulating hepcidin, leading to increased iron absorption and progressive accumulation in the body. It is commonly encountered in the Western population, but prevalence in the Indian population, especially of the H63D homozygous mutation variant, is on the lower end. Herein is a case of a young male with a paternal hereditary trait of polydactyly, on regular follow-up for anti-hypertensives, who presented with fatigue and multiple large joint pains. Unexplained fatigue, along with a significant family history, warranted further evaluation. Serum iron levels, transferrin saturation, and ferritin levels were elevated. Hence, the patient was referred to the hematology department, for which HFE genetic mutation analysis was done, and a H63D homozygous mutant was noted. Target end-organ damage was assessed. The patient was monitored and advised to reduce iron intake. Genetic counseling was also done, along with screening of first- and second-degree relatives.