Hemochromatosis and Iron Metabolism

Hereditary hemochromatosis Hereditary hemochromatosis (HH) is characterized by abnormal iron absorption from the diet resulting in progressive iron overload, causing tissue damage of several organs, particularly the liver (1). Historically HH has been regarded as an extremely rare inborn error of metabolism causing "bronze diabetes", liver cirrhosis and hepatocellular carcinoma due to heavy iron overload in the liver and pancreas. Doctors have therefore rarely suspected that patients presenting with fatigue and abnormal liver tests may in fact may have hemochromatosis . Physicians should now consider HH as "a disorder". To the classical three " A"s , asthenia, arthropathy and ALT elevations (2) may be added "arrhythmia". Abnormal pigmentation may also be seen, especially in cases with concomitant porphyria cutanea tarda (3). Absence of symptoms is nonetheless common, particularly in young subjects, due to variable phenotypic expression of the disease and variations of lifetime accumulation of iron stores. Early detection, in conjunction with routine check-ups or screening procedures, is of utmost importance because an effective therapy is available through phlebotomy (4,5). The diagnosis which previously required extended family studies and HLA-typing has become very simple provided it has been considered. Diagnostic tests using modern DNA technology have become readily available and inexpensive as we have entered into the new millennium.