BACKGROUND:
Hereditary hemochromatosis (HH), is an autosomal recessive disorder with iron overload in several organs, especially within the liver. The monoallelic genetic disorder-hereditary hemochromatosis, was first described by Trousseau in 1889 as a triad of glycosuria, cirrhosis, and hyperpigmentation of the skin. The term hemochromatosis was first employed by Von Recklinghausen in 18893. HH is usually because of two histone family E1 (HFE1), gene mutations-C282Y, and H63D4.The HFE gene is present within the human leukocyte antigen (HLA) class 1 region on chromosome 6 between the genes coding for HLA-A and HLA-B. Two mutations within the HFE gene are described. The first mutation is at C282Y,consisting of substitution of tyrosine for cysteine at amino acid position 282. The second mutation is at H63D in which amino acid is substituted for histidine in position 63. Either C282Y or H63D is found in most patients with HH5. Secondary hemochromatosis is caused by disorders of erythropoiesis and treatment of the diseases with blood transfusions6. Hereditary hemochromatosis is characterized by abnormal iron absorption from the diet leading to progressive iron overload, causing tissue damage in several organs, particularly the liver7.HFE gene mutations are strongly associated with predisposition to HH and are also implicated in other disorders such as rheumatoid arthritis, type 2 DM, porphyria cutanea tarda, and coronary heart condition. Considerable ethnic variation is observed within the distribution of HFE mutations. We hereby report a case of a heterozygous hemochromatosis who presented with a yellow discoloration of her urine followed by yellow discoloration of her eyes associated with headache, nausea, and vomiting8.