Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Hereditary hemochromatosis is an inherited condition where an excess of iron is absorbed from the diet, causing its accumulation in vital organs and subsequent organ damage. Very few cases of hereditary hemochromatosis have been reported, and reports of genetic studies are rare. Genetic mutations and environmental factors regulate iron absorption, which modulates the manifestation of disease. Case presentation- A 30-year-old male presented to the Endocrinology outpatient clinic with a complaint of decreased facial and axillary hair and reduced sexual desire since puberty. The patient was diagnosed with hypogonadotropic Hypogonadism, and magnetic resonance imaging suggested Pituitary hemosiderosis. Mutation analysis revealed the presence of an HFE2 gene mutation, indicating Hereditary Haemochromatosis type 2A. Conclusion- Early diagnosis and timely phlebotomy are the key to preventing end-organ damage.
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414544978
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