Hemochromatosis complete mutation analysis, 2 mutations in 2 exons: $149.00

Disease Characteristic
Hemochromatosis is a disease that causes the body to absorb excessive iron from the diet. The surfeit iron is stored in the body's tissues and organs, particularly the heart, liver, pancreas, and joints. Since humans cannot increase excretion of iron, the extra iron accumulates over time and eventually damages the tissue.

How Common is Hemochromatosis?
Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects Caucasians (whites).    

Penetrance
Pooled data from several studies showed that homozygote C282Y/ C282Y have the greatest penetrance followed by compound heterozygote C282Y/H63D. However, even some homozygotes do not develop significant iron overload.
    
Genes and Mutations (Genotype-Phenotype Relationships)
The proteins produced by hemochromatosis genes play an important role in regulating the absorption, transport, and storage of iron. Mutations in gene HFE disrupt their normal activities. As a result, iron accumulates in the body, which can damage tissues and organs. We identify the mutations C282Y and H63D in the HFE gene, which may cause hemochromatosis.

Phenotypes                        
Early symptoms are:
Fatigue, joint pain, abdominal pain, impotence, and loss of sex drive.

Later signs and symptoms include:
Arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.

Criteria for Genetic Testing
        
            Family History
            Iron overload in body
            Liver problems and iron/ferritin abnormalitiy
            Confirm hereditary hemochromatosis