Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by ... Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (606464). HFE2 is genetically heterogeneous (see HFE2A, 602390).
Papanikolaou et al. (2002) reported a single inbred pedigree with juvenile hemochromatosis that was not linked to 1q. The 2 affected daughters of third-cousin parents had a typical JH phenotype.
Roetto et al. (2003) studied 2 families with juvenile hemochromatosis not linked to 1q, including the one studied by Papanikolaou et al. (2002). Using microsatellite markers encompassing a region of 2.7 cM on 19q13 in one family, they ... Roetto et al. (2003) studied 2 families with juvenile hemochromatosis not linked to 1q, including the one studied by Papanikolaou et al. (2002). Using microsatellite markers encompassing a region of 2.7 cM on 19q13 in one family, they identified a region of homozygosity in both probands. They then sequenced the coding region of the HAMP gene (606464), exon-intron boundaries, and 5- and 3-prime untranslated regions in this family and a second family (one studied by Camaschella et al. (1997)) and identified 2 mutations (606464.0001, 606464.0002). All affected individuals were less than 30 years at onset of clinical symptoms and had severe iron overload with liver fibrosis or cirrhosis and hypogonadism, meeting the diagnostic criteria for juvenile hereditary hemochromatosis (De Gobbi et al., 2002). One affected individual also had cardiomyopathy.