Cloning of the hereditary hemochromatosis gene: Implications for pathogenesis, diagnosis, and screening
A Himmelmann, J Fehr - Journal of Laboratory and Clinical Medicine, 1999 - Elsevier
Hereditary hemochromatosis (HH) is one of the most common genetic disorders affecting
populations of European ancestry. It is characterized by an inappropriately high iron
absorption that leads to iron overload preferentially in the parenchymal organs. Although the
severity of the phenotype can be modified by a number of factors, it is clear that most
homozygotes will eventually become symptomatic. Clinical manifestations are often
nonspecific and easily overlooked. Untreated HH can be associated with substantial …
populations of European ancestry. It is characterized by an inappropriately high iron
absorption that leads to iron overload preferentially in the parenchymal organs. Although the
severity of the phenotype can be modified by a number of factors, it is clear that most
homozygotes will eventually become symptomatic. Clinical manifestations are often
nonspecific and easily overlooked. Untreated HH can be associated with substantial …