| CASE REPORT |
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| Year : 2015 | Volume
: 4
| Issue : 3 | Page : 174-177 |
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Hereditary hemochromatosis in an Indian origin: A rare case report
RL Geetha, BR Vani, V Srinivasa Murthy, Deepak Kumar, K Geethamala
Department of Pathology, ESIC Medical College and PGIMSR, Bengaluru, Karnataka, India
Correspondence Address:
R L Geetha
Department of Pathology, ESIC Medical College and PGIMSR, Rajajinagar, Bengaluru, Karnataka
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2278-344X.160894
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Hereditary hemochromatosis (HH) is manifested as an iron overload in different organs due to homozygosity of a single autosomal mutation. If untreated it leads to conditions such as liver cirrhosis, type 1 diabetes mellitus, hypogonadotropic hypogonadism, cardiomyopathy, arthritis, and bronze coloring of the skin. Hemochromatosis affects as many as 1 in every 200 people in the United States, but in India the reports of genetic study are rare and virtually unexplored. It is also possible that in India clinical hemochromatosis could be masked by iron deficiency. Patients with HH may be either asymptomatic or symptomatic. When symptomatic, there is a wide range of symptoms and a high index of suspicion based on the symptoms is necessary to diagnose the entity. We report an interesting and rare case of HH in a 35-year-old male of Indian origin, who presented with icterus and fever of acute onset with negative HFE genetic mutations. |
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