Any one of you could have Hemochromatosis – It’s not exclusive to me!
Someone messaged me yesterday asking if this is a very rare condition as they had never heard of it. Well, the answer is both yes and no.
Yes, because its rarity is due to it not being publically highlighted, not being taken at all seriously and therefore demands no real awareness.
I now truly believe that this was a definite contributory factor in causing my Sister Patsy’s death. She only died in 2003 and yet even though she was under a liver specialist, and had a liver biopsy, this gene was not found or indeed even looked for. And, yes she was a drinker heavy at times, but that is not in question. The fact is if she had been diagnosed with this HFE gene earlier it could have saved her life. I have both the HFE and CY282Y so it is 99% certain that she would have also had it.
And. No, because this is a genetic disorder, which unfortunately goes mainly undiagnosed. Here is an extract and excellent symptom analogy from www.haemochromatosis.org
Haemochromatosis (iron overload) is the most common genetic disorder. Approximately 1 in 200 to 300 humans have this disorder (1-5). Most doctors still think it is a rare disorder (1). About 10% of the population carries the gene that causes iron overload. When someone inherits this gene from both parents, he or she may(6) absorb to much iron from their normal diet. This iron will be stored in the liver and several other tissues in the body and can cause a great number of symptoms. These symptoms, as a cause of Haemochromatosis, can be found in babies and small children, but it is most common above the age of 40. Unfortunately, when symptoms are found at this age, it is considered a "late diagnosis" and the damage has been done. Early screening and diagnosis could help patients completely avoid organ damage and premature death.
One or more of the following complaints can point to Haemochromatosis. * Chronic fatigue * Increased susceptibility for infections * Liver function abnormalities * Arthritis (pain, swelling and morning stiffness of certain joints, often the hands) * Diabetes * Loss of libido (less desire in sex) and impotence * Infertility * Swollen stomach (or uncomfortable, heavy feeling, mostly on the right side of the belly) * Heart complaints * Shortness of breath with physical effort * Skin pigmentation (bronze or grey coloured skin) * Loss of weight * Decrease in body hair * Early menopause * Porphyria Cutanea Tarda
Every doctor should consider Haemochromatosis in his diagnose when there is no direct cause found for one of the above complaints (2, p. 158-9), 3, 7-9).