What is Hemochromatosis? Hemochromatosis is an iron disorder in which the body ordinarily loads too much iron. Excess iron is deposited in your organs, especially liver, heart, and pancreas. Too much iron can lead to life-threatening situations, such as liver disease, heart problems, and diabetes.
The most significant causes are hereditary hemochromatosis (HHC), a genetic disorder, and transfusional iron overload, which can happen from repeated blood transfusions.
Symptoms of Hemochromatosis
A person with hemochromatosis may notify one or more of the symptoms:
- Abdominal pain
- Joint pain
- Increased Sensitivity to Heat or Cold
- Fatigue
- Skin conditions- including rash and itching
- Weakness
- Heart flutters
- Irregular heartbeat
- Restlessness, Difficulty Concentrating or Focusing
- Loss of sex drive
- Impotence
Causes of Hemochromatosis
The causes can be identified between primary cases (hereditary or genetically confirmed) and less common secondary cases got during life. People of Irish, Scottish, Welsh, Cornish, Breton, English, and Scandinavian origin have an individually high incidence of whom about 10% are carriers of the C282Y mutation on the HFE gene connected with HLA-A3 and 1% have the condition.
Diagnosing of Hemochromatosis
There are 3 tests(serum ferritin, Total iron binding capacity, and serum iron) that together make up the Iron Panel Test. These tests need to be taken as a panel, not independently, to receive a comprehensive and accurate assessment of a potential Hemochromatosis diagnosis-
SERUM IRON (SI)
This test is best attended after fasting for at least three hours. Additionally, iron or vitamin C supplements should be discontinued at least three days before taking the test.
SERUM FERRITIN (SF)
This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal. For adults, the ideal range is 50-150 ng/ml.
TOTAL IRON BINDING CAPACITY (TIBC)
This test indicates how thoroughly your body can bind to iron. Serum iron divided by TIBC x 100% provides you data about the transferrin-iron saturation percentage (TS%). TS% is normally 25-35%; people with iron overload, the TS% is very high.
Genetic Tests
The gene is referred to as the HFE gene. Hereditary hemochromatosis is associated in most patients with two mutations of the HFE gene; C282Y and H63D. Currently, most investigators consider detection of these genes diagnoses hereditary hemochromatosis.
In the past, liver biopsy was widely used to diagnose hemochromatosis.
Hemochromatosis Treatment
The usual effective strategy for hemochromatosis is to the withdrawal of blood from the forearm veins. One unit of blood, which carries 250 mg of iron, ordinarily is withdrawn every one to two weeks. Once ferritin levels are under 50 ng/ml and transferrin saturation are under 50%, the frequency of phlebotomies are declined to every two to three months.
Diet Recommendations for Hemochromatosis
- Ingestion of high doses of vitamin C in individuals with iron overload leads to fatal abnormal heart rhythms. Avoid vitamin C supplementation until patients are adequately treated.
- Avoiding supplements that contain iron
- limiting the number of alcoholic beverages, Alcohol should be avoided since alcohol consumption increases the risk of developing cirrhosis and liver cancer.
- Raw seafood should be avoided since people with hemochromatosis, that flourish in the iron-rich environment.
- Eating only moderate amounts of iron-rich foods, such as red meat and organ meat.
Complication of Hemochromatosis
Not everyone with hemochromatosis will exhibit these symptoms.
Undiagnosed and untreated hemochromatosis enhances the chance of diseases and conditions such as:
- Arthritis (osteoarthritis, osteoporosis)
- Diabetes mellitus
- Irregular heartbeat
- Cirrhosis of the liver
- Impotence
- Infertility
- Gallbladder disease
- Depression
- Hypothyroidism
- Hypogonadism
Mismanaged iron in the brain has been people with neurodegenerative disorders: Alzheimer’s, multiple sclerosis, early onset Parkinson’s, epilepsy, and Huntington’s disease.
