Diagnosis and Current Treatment Strategies for Adult and Juvenile Hereditary Hemochromatosis

Abstract

Hemochromatosis is a common genetic disorder manifesting as an iron overload state requiring complex processes in diagnosis, treatment, and management of both adult, and pediatric, populations. This review outlines general diagnostic and treatment strategies for hemochromatosis detailing fundamental processes in iron excess, or iron overload, through physiologic function and associated pathological effects. Genetic mutations, as ascribed to hemochromatosis, have significant impact in producing pathophysiology. Understanding basic pathophysiological mechanisms can inform future diagnosis and treatment through advances such as erythrocytophoresis. Linking concepts related to the diagnosis, treatment, and management of adult and juvenile hereditary hemochromatosis with scientific advances may enlighten clinical medicine and future hemochromatosis therapy.