Hereditary Hemochromatosis
Since this article does not have an abstract, we have provided the first 150 words of the full text.
Excerpt
SELECTED CASE A 44-year-old man had shoulder and finger pain and consulted his local physician. Screening blood tests were obtained as part of the initial evaluation and revealed the following values: hemoglobin, 135 g/L; hematocrit, 0.40; serum iron, 37 μmol/L (209 μg/dL); transferrin, 2.19 g/L; transferrin saturation, 95%; and serum ferritin, 2430 μg/L. Liver function tests revealed the following values: aspartate aminotransferase, 43 U/L; alanine aminotranferase, 68 U/L; and alkaline phosphatase and bilirubin, normal. A liver biopsy was performed and examination of tissue sections revealed fatty metamorphosis and an increase in fibrous tissue in portal areas consistent with early cirrhosis. Large amounts of parenchymal iron were noted on Prussian blue staining, particularly in the periportal area.
The diagnosis based on the test results was hemochromatosis, and a phlebotomy program was initiated. The patient was referred to the National Institutes of Health where on physical examination the absence of frank arthritis
Footnotes
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Reprint requests to National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 (Dr Rouault).
