Introduction to Hereditary Hemochromatosis
Incidence of Hereditary Hemochromatosis
Surprisingly, most people have never heard about hereditary hemochromatosis even though it is one of the most common genetic disorders in the United States. Lack of appreciation for the frequency of this genetic disorder often leads to underdiagnosis or misdiagnosis of the condition. The U.S. Centers for Disease Control and Prevention reports that most patients visit three doctors before being correctly diagnosed with hereditary hemochromatosis.
Although both men and women can inherit the genetic mutation that causes hereditary hemochromatosis, symptoms of the disorder are more commonly observed in males than in females. The average age at diagnosis for men is between the ages of 40 and 60. Women are often diagnosed in the postmenopausal years since in the course of menstruating, blood iron levels may have been naturally depleted so that evidence of iron overload may have been masked. It has been estimated that approximately 0.5% of the U.S. Caucasian population (1 out of 200 people), especially those of northern and western European descent, carry two copies of the HFE gene and are at risk for developing this disorder. Approximately 1 in 8 to 12 people is thought to be a carrier for the mutated C282Y gene. Hereditary hemochromatosis is the most commonly inherited liver disease in Europe but is rarely found in indigenous populations of Africa, Asia, or the Pacific Islands.
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