A word on Hemochromatosis. Mainly what does it mean?
Back in Beethoven's time a doctor discovered people dying with bronzed skin and a liver that looked like they had drank too many fifths. He named the condition Hemochromatosis (Actually Haemochromatosis but Americans chopped out the first A. Much of the rest of the world seems to still use it). In modern times this has been further defined as Iron Overload. So hemochromatosis is simply when someone stores too much iron regardless of the reason and is a synonym for Iron Overload.
There are many types of this, but I this site is devoted to what is called Type 1 or Hereditary Hemochromatosis (HH or HHC). This term started being used when it was realized that the condition occurred in families, like Steve McQueen's daughter and John Steinbeck's son. This may be the common name you will see used.
Finally came the mapping of the genome and the scientists named one gene on chromosome 6 the hemochromatosis gene (HFE) because it controls iron homeostasis in the body. So Genetic Hemochromatosis (GH) is really the updated term for HH (though not used as commonly in the US) and means that there is not just a Single Nucleotide Polymorphism (SNP) on the HFE gene, but one of the few that scientists have figured out can lead to Iron Overload. But even then the folks in lab coats don't have it figured out, because only about 50% of the people who are diagnosed with GH actually develop Iron Overload symptoms and many who have other SNPs of the HFE gene (and are therefore diagnosed as NOT having GH!) still do go on to develop Iron Overload. I have also seen this named HFE-HH, meaning HFE gene related hereditary hemochromatosis.
This is why a doctor telling someone they have a negative result on the genetic test and then not running iron labs is potentially dangerous. Other parts of this site will be focused on what doctors currently know and how to help them help you.
It is important to get your iron tested occasionally even if you had a 'negative' GH test and keep a copy of your labs to compare year to year and see if they are continuously elevating. Common GH symptoms like diabetes, heart disease, bipolar disorder, arthritis and many others may end up being treated individually while Iron Overload progressively kills us. These symptoms also can start long before the body is truly in a medical state of Iron Overload, so this precaution could significantly improve and lengthen your life..
There are many types of this, but I this site is devoted to what is called Type 1 or Hereditary Hemochromatosis (HH or HHC). This term started being used when it was realized that the condition occurred in families, like Steve McQueen's daughter and John Steinbeck's son. This may be the common name you will see used.
Finally came the mapping of the genome and the scientists named one gene on chromosome 6 the hemochromatosis gene (HFE) because it controls iron homeostasis in the body. So Genetic Hemochromatosis (GH) is really the updated term for HH (though not used as commonly in the US) and means that there is not just a Single Nucleotide Polymorphism (SNP) on the HFE gene, but one of the few that scientists have figured out can lead to Iron Overload. But even then the folks in lab coats don't have it figured out, because only about 50% of the people who are diagnosed with GH actually develop Iron Overload symptoms and many who have other SNPs of the HFE gene (and are therefore diagnosed as NOT having GH!) still do go on to develop Iron Overload. I have also seen this named HFE-HH, meaning HFE gene related hereditary hemochromatosis.
This is why a doctor telling someone they have a negative result on the genetic test and then not running iron labs is potentially dangerous. Other parts of this site will be focused on what doctors currently know and how to help them help you.
It is important to get your iron tested occasionally even if you had a 'negative' GH test and keep a copy of your labs to compare year to year and see if they are continuously elevating. Common GH symptoms like diabetes, heart disease, bipolar disorder, arthritis and many others may end up being treated individually while Iron Overload progressively kills us. These symptoms also can start long before the body is truly in a medical state of Iron Overload, so this precaution could significantly improve and lengthen your life..