A Case Report on Hemochromatosis Presenting with Diabetes Mellitus and Secondary Amenorrhea

Debleena Paul*, Uma Kaimal Saikia, Ashok Krishna Bhuyan and Abhamoni Baro Agarwal

Hemochromatosis is an iron storage disorder characterized by excessive iron absorption and deposition, leading to tissue damage and organ failure. Here we report a case of a 35-year-old female with a 6-year history of diabetes mellitus and secondary amenorrhea, along with chronic liver dysfunction and severe anemia requiring frequent blood transfusions. Clinical evaluation revealed severe pallor, hepatosplenomegaly, and hypogonadism. Laboratory findings indicated severe anemia (hemoglobin 4.8 g/dL), elevated serum ferritin (>1000 ng/ml), and high transferrin saturation (82.02%). Hormonal assays confirmed secondary hypogonadism with low FSH and LH levels. Imaging and liver biopsy demonstrated iron overload, and genetic testing identified SLC40A1 mutation, confirming hereditary hemochromatosis type 4, alongside beta-thalassemia minor. The patient was managed with deferasirox for iron chelation, insulin therapy for diabetes, and hormone replacement for hypogonadism. This case highlights the importance of considering hemochromatosis in patients with diabetes, liver dysfunction, and hypogonadism, especially in the context of anemia and frequent transfusions. Early diagnosis and treatment are crucial to prevent complications and improve outcomes. Genetic testing and liver biopsy play key roles in confirming the diagnosis, particularly in non-HFE hemochromatosis. This report underscores the need for a high index of suspicion in similar clinical presentations to ensure timely intervention.

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Published on: Feb 4, 2025 Pages: 1-4

Full Text PDF Full Text HTML DOI: 10.17352/ahcrr.000048
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