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Blood, 15 June 2004, Vol. 103, No. 12, pp. 4669-4671.
Prepublished online as a Blood First Edition Paper on February 24, 2004; DOI 10.1182/blood-2004-01-0072.
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RED CELLS
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
Pauline L. Lee,
Ernest Beutler,
Sreenivas V. Rao, and
James C. Barton
From the Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA; Carolina Health Care, Florence, SC; and Southern Iron Disorders Center, Birmingham, AL.
Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest that it be designated HJV. We sequenced this gene in members of 2 previously reported kinships that manifest typical juvenile hemochromatosis. In one kinship, 2 previously undescribed mutations of HJV were identified, c.238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis. (Blood. 2004;103:4669-4671)
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