THE DISEASE - Hemochromatosis is due to a gene mutation that results in increasing amounts of iron (Fe) being absorbed from food and stored in the body’s organs. It is sometimes referred to as an “iron overload disorder”.
A NOTE FOR BRITTLE DIABETICS
BDF supports the position that all brittle type 1 diabetics should be tested for excess iron. Major reason - About 40% of those diagnosed with Hemochromatosis have also been diagnosed with type 1 diabetes at the same time. The accumulation of excess iron in those organs that can affect blood glucose levels such as the pancreas, thymus, adrenal and pituitary glands may account for blood glucose instability experienced by brittle diabetics.
This is a slow insidious disease often overlooked by physicians. Make sure you call it to your doctor’s attention.
IRON - Iron is an essential mineral found in hemoglobin, the protein in red blood cells that transports oxygen to all parts of the body and in enzymes that control metabolic processes. Too little iron, the body fails to function; too much proves toxic to human organs. This balancing act is complicated by not having a way to purge the excess iron. This excess Fe accumulates over 20+ years until toxic levels are reached in multiple organs.
The normal iron content of the body is 3 to 4 grams. The body loses 1 mg daily from sweat and from shedding skin and intestinal cells. Normally adults absorb 10% (approx. one mg) of the iron contained in food. As a result of this genetic defect the body accumulates 20 + grams of excess Fe by age 50 leading to the signs and symptoms of Hemochromatosis.
SYMPTOMS – People are asymptomatic for years until early stage symptoms begin appearing. These symptoms tend to be non-specific such as joint pain, lack of energy, abdominal pain, menstrual irregularities, lack of sex drive. In the advanced stage, symptoms manifest themselves based on the organ affected. In the case of excess iron in the pancreas, inability to produce insulin leads to type 1 symptoms. Other late stage problems include heart disease, arthritis, cirrhosis, hypothyroidism, adrenal malfunctions, liver and pancreatic cancer, gonadotropism, depression and the bronzing (discoloration) of skin.
Because physicians tend to treat symptoms, hemochromatosis is seriously under-diagnosed or misdiagnosed and is too often overlooked as a CAUSE. Screening for iron is not routinely part of medical care or check-ups. It should be. If treatment is administered before organ damage, late stage complications can be avoided.
Tests that can be run to determine iron levels: ferritin, serum iron, TIBC, transferrin saturation, liver biopsy, and genetic tests for the mutant gene C282Y.
TREATMENT – Phlebotomy or blood-letting is accomplished by donating a half pint of blood each week for several months to years until iron levels are reduced. Excess iron must be removed when the serum ferritin level rises above 300ug/l in men and 200ug/l in women. The goal of phlebotomy is to drop and maintain serum ferritin levels below 50ug/l to prevent organ damage.
HEREDITY - More than 20 different mutations of the HFE gene, which regulates the amount of iron absorbed from food, have been identified. The two most common mutations are C282Y and H63D. By inheriting the defective gene from both parents – a homozygous recessive condition increases iron accumulation fourfold. Those parents who carry one copy of the recessive gene are considered “carriers” and will be asymptomatic for the condition. 25% of their offspring will have the disease.
FREQUENCY – Most people have never heard of Hemochromatosis and yet it is the most common genetic disease in this country with 13% of the population carrying this recessive trait. One in 200 people have the disease. It is most often noted in Caucasians of Northern European descent. Over one million people in the USA have this genetic defect and about 50% will eventually develop further complications. Men are 5x’s more likely to be diagnosed because the long term complications occur at a younger age 30-50. Women are generally diagnosed after 50 following menopause. The reason- women lose iron during menstruating, birthing and breast feeding which slows iron accumulation, delaying symptoms by 15 to 20 years.