It has been very helpful in separating alcoholics from patients with hereditary hemochromatosis. The prevalence of alcoholism in hemochromatosis has been overemphasized and comes from studies that were likely 'contaminated' with patients with alcoholic siderosis. A male homozygote of this age would usually have more significant iron loading. Because of the close proximity of the hemochromatosis gene to the HLA locus on chromosome 6, HLA typing can be used as a surrogate genetic test. The major use of HLA typing is within families as illustrated in this case.
Liver biopsy with hepatic iron concentration shows much less iron and a low hepatic iron index.
It was not required in this case. MRI scanning can detect abnormalities in patients with moderate to severe iron overload but does not alleviate the need for liver biopsy in the investigation of the homozygote. This is a useful approach in the evaluation of a young asymptomatic patient with a slight elevation of ferritin and no family history of hemochromatosis. Patients with thalassemia present early in life with microcytic anemia, abnormal blood smear and progressively develop iron overload which is exacerbated by transfusions. Other iron loading anemias such as sideroblastic anemia are suspected with the initial complete blood count and blood smear and may be confirmed by bone marrow examination.