Hereditary Hemochromatosis and Polydactyly: A Case Report

Area of Science:

• Genetics
• Internal Medicine
• Hematology

Background:

• Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron absorption due to mutations in hepcidin-regulating genes.
• While prevalent in Western populations, the homozygous HFE H63D mutation variant is less common in the Indian population.

Observation:

• A young male with a family history of polydactyly and hypertension presented with fatigue and joint pain.
• Elevated serum iron, transferrin saturation, and ferritin levels prompted further investigation.
• Clinical presentation and family history suggested a need for genetic evaluation.

Findings:

• Hereditary hemochromatosis genetic mutation analysis revealed the HFE H63D homozygous variant.
• The patient exhibited elevated iron markers consistent with HH.
• End-organ damage assessment was initiated.

Implications:

• This case underscores the importance of considering hereditary hemochromatosis in the differential diagnosis of unexplained fatigue and elevated iron levels, even in populations with lower reported prevalence.
• Early diagnosis and management, including dietary modifications and genetic counseling, are crucial for preventing iron overload complications.
• Screening of at-risk relatives is essential for early detection and intervention.