Partly true. The disorder is called hereditary hemochromatosis and it is an autosomal recessive disorder. Meaning it is passed from parent to offspring, people can be carriers of the gene, and you have to have 2 copies of the gene to have the disorder: one from the father and one from the mother. Hemochromatosis is an iron overload which can have other causes than hereditary hemochromatosis though.
Primary is genetic. Primary hemochromatosis is a group of genetic diseases in which iron accumulates excessively in the body. One of these is very common, the rest are uncommon. Secondary hemochromatosis results from iron accumulating in the body as a result of transfusions or very excessive iron ingestion / administration rather than a specific genetic mutation.
It is true. The full name is, indeed, hereditary hemochromatosis. The most common form in the western world is mediated by the inheritance of 2 abnormal copies of a gene called hfe. So you need one abnormal copy from mom and one from dad. Single copy carriers do not have hemochromatosis.
How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?
Blood tests. Iron and TIBC (total iron binding capacity) can be used to detect iron overload (iron/tibc >45 increases suspicion). Hemochromatosis, one cause for iron overload, can be detected by a gene study. As a general rule, patients with hemochromatosis are referred to gastroenterologist for a liver biopsy, as iron overload can do significant damage to the liver. Read more...
Hematologist. You will need to see a hematologist for further evaluation and treatment of hemochromatosis. Some blood test -including iron level and genetic mutation analysis would be done. If confirmed that you have genetic mutation for hemochromatosis and high iron level- imaging of the liver with MRI would be done. Your hematologist will d/w you-regarding the treatment. Read more...