Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

To the Editor : We report a 39-year-old man from India with severe hepatic iron overload (grade 3–4) without signs of inflammation or fibrosis on liver biopsy (Fig. 1a), as well as recently diagnosed insulin-dependent diabetes mellitus. He had no risk factors for chronic liver disease. His older brother (44 years) was diagnosed with insulin-dependent diabetes 7 years ago. Laboratory findings showed mild hypochromic anemia with reduced serum iron concentration (34 μg/dl, normal 59–158 μg/dl), high ferritin level (1273 ng/ml,normal 30–400 ng/dl) but low transferrin saturation (11%, normal 16–45%), and complete absence of serum copper and ceruloplasmin (CP). The biochemical liver function tests were normal. Genetic testing for hemochromatosis showed wild-type p.C282Y alleles and the heterozygous