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 Blood, 1 October 2004, Vol. 104, No. 7, pp. 2176-2177.
Prepublished online as a Blood First Edition Paper on May 11, 2004; DOI 10.1182/blood-2004-01-0400.

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RED CELLS
Brief report

Identification of a novel mutation (C321X) in HJV

Franklin W. Huang, Isabel Rubio-Aliaga, James P. Kushner, Nancy C. Andrews, and Mark D. Fleming

From the Division of Medical Sciences, Harvard University, Boston; the Departments of Pediatrics and Pathology, Children's Hospital Boston and Harvard Medical School; Howard Hughes Medical Institute, Boston; the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA; and the Department of Medicine, University of Utah School of Medicine, Salt Lake City.

Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders. (Blood. 2004;104:2176-2177)


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