Genomics Services
     
 
 
Hereditary Hemochromatosis
Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism. The disease is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues. Iron overload can cause hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, arthropathy, and Cardiomyopathy. The majority of HH patients have mutations in the HFE gene. There are three common mutations that are clinically relevant for most of the cases of Hereditary Hemochromatosis. Clinically significant iron overload also can occur in the absence of known HFE mutations, so a negative HFE test does not exclude a diagnosis of iron overload or hemochromatosis.

Sample Type

Blood Sample: 5 ml blood in EDTA Vacutainer at 2-8°C
 
 
 
Beta Thalassemia   |   Sickle Cell Anemia   |   MTHFR (Methylenetetrahydrofolate reductase)
Lactose Intolerance   |   Cystic Fibrosis (CFTR Mutation)
Biotinidase Deficiency   |   Hereditary Hemochromatosis
 
 
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