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Hereditary Hemochromatosis (LabFacets)

Source: www.labcorp.com
Topic: Hemochromatosis
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Sort Desciption: Hereditary hemochromatosis (HH) is an autosomal. recessive iron storage disorder. ... hereditary hemochromatosis can be caused by a variety of genetic ...

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Introduction Hereditary hemochromatosis (HH) is an autosomal recessive iron storage disorder. Despite sufficient stores of iron in the body, people with HH absorb more iron than is necessary, leading to an iron overload that is damaging to most tissues. Common early symptoms include abdominal pain, weakness, lethargy, and weight loss. Males usually develop symptoms in their 40s and females after menopause. 1 Because of the nonspecificity of the early clinical symptoms, HH is often misdiagnosed. Without proper treatment, the excess iron storage associated with HH can lead to progressive skin pigmentation, cirrhosis, diabetes, arthritis, hypopituitarism, cardiac disease, and death. 1 Fortunately, early identification and treatment of patients with HH helps to prevent these complications, and patient life expectancy approaches normal. Hereditary hemo-chromatosis is typically treated by therapeutic phlebotomy to remove excess iron from the blood and maintain iron stores at normal levels. Hereditary hemochromatosis is the most common genetic disease in Caucasian populations of northern European descent. 2 Approximately 1 in 300 individuals in this population is affected and 1 in 9 is a carrier. 1 Couples who are both carriers usually have a 1 in 4 risk of having a child with HH. Due to the high frequency of HH mutations in the population, children of affected individuals have a 1 in 18 chance of also being affected. 1 Diagnosis of Hereditary Hemochromatosis The diagnosis of HH in patients with clinical symptoms consistent with HH or iron overload is usually based on the measurement of iron levels in serum or tissue. This is commonly achieved through the measurement of serum transferrin-iron saturation. If an adult has a serum transferrin-iron saturation of >45%, HH should be suspected. 1 Confirmatory testing options include histologic assessment of iron stores via liver biopsy and DNA testing for the genetic mutations associated ...

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