Hemochromatosis or Iron Overload is an inherited medical condition in which there is excessive buildup of iron in the body and the body is unable to remove or excrete surplus iron. This excessive buildup of iron results in severe damage of various organs, joints, and other parts of the body. Hemochromatosis can be a fatal disease if untreated. In this article, we will discuss about the various causes, symptoms, and treatments of Hemochromatosis or Iron Overload.
Facts About Hemochromatosis or Iron Overload
- Inherited Disorder-
- Hemochromatosis is an inherited disorder in which the body stores excessive iron.1, 2
- Genetic Mutation 3
- Hemochromatosis or Iron Overload is the disease caused by genetic mutation. The genetic malfunction causes defaults in iron metabolism resulting in excess iron accumulation in the body.
- Iron Concentration-
- Iron concentration in body is increased following absorption of excessive iron from food.
- Organ Damage-
- The excess iron is stored in liver, heart and pancreas.
- The excess stored iron damages these organs, leading to life-threatening conditions such as diabetes, cancer, heart arrhythmias and cirrhosis.
- The excess iron causes malfunction of the vital organs.
- Disease if not treated appropriately results in severe damage of joints, liver, heart, pancrease and may result in fatal outcome.
- More Common in Caucasians-
- Disease is observed predominantly in Caucasians.3
- Spread of Disease in USA-
- Research has shown that more than a million Americans have abnormal genes that causes hemochromatosis.
- Complications If Untreated-
Causes of Hemochromatosis or Iron Overload
- Genetic Disorder 2
- Hemochromatosis or Iron Overload may be inherited genetic disorder and become symptomatic in early childhood.
- The affected individual inherits one HFE gene from each parent.
- This genetic disorder is usually hereditary and passes down from families.
- Genetic Mutation 3
- One of the causes of Hemochromatosis or Iron Overload is expressed as gene mutation. The normal gene controls the iron metabolism and amount of iron present in the body.
- Amount of iron absorbed depends on hormonal balance, which is closely related to hemoglobin metabolism. Gene mutation overrides the hormonal control of iron absorption.
- Gene mutation may be acquired disease following autoimmune or viral disease.
- Autosomal Recessive Disorder-
- Lab study suggests hemochromatosis may be autosomal recessive inherited disease.4
Risk Factors for Hemochromatosis or Iron Overload
Risk Factors for Hemochromatosis or Iron Overload are As Follows:
- Viral Infection-
- Viral infection may initiate gene mutation.
- Parents with history of hemochromatosis-
- Inheritance or genetic transfer of abnormal genes.
- Family history of following diseases-
- Heart Attacks
- Liver Dysfunction5
- Northern Europe-
- People from Northern Europe are more likely to get Hemochromatosis
- Male Dominance-
- Hemochromatosis is seen more in males than in females
Symptoms and Signs of Hemochromatosis or Iron Overload
Some Of The Common Symptoms Of Hemochromatosis or Iron Overload Are:
Non-Specific Symptoms of Hemochromatosis or Iron Overload-
- Weakness and fatigue.
- Low grade fever.
- Loss of appetite.
Specific Symptoms of Hemochromatosis or Iron Overload-
- Pain in the joints
- Decreased Libido
- Heart Failure
- Irregular Heart Beats
Diagnosis of Hemochromatosis or Iron Overload
Hemochromatosis is quite a difficult disease to accurately diagnose, as some of the symptoms of hemochromatosis resemble symptoms of many other pathological conditions.
- High Blood Sugar- Elevated in diabetes or hemochromatosis.
- White Blood Cell Count- Elevated in infection.
- Liver Function Test- Abnormal liver function test suggesting liver disease or liver damage in hemochromatosis.
- Erythrocyte Sedimentation Rate (ESR)- High ESR with joint pain suggesting possible arthritis or hemochromatosis.
Individuals with Hemochromatosis or Iron Overload do not have any classical signs and symptoms of the disease except for elevated levels of iron in blood, so Hemochromatosis is generally diagnosed in blood tests done to diagnose some other disease condition or as a result of screening done of family members of an affected individual.
- Serum Transferrin Saturation Test: This test gives the amount of iron bound to transferrin protein, which carries iron in the blood.
- Serum Ferritin Test: This test gives us the amount of iron stored in the liver. If the above mentioned Serum Transferrin Saturation Test shows elevated values then this test is performed.
- MRI Scan: To look for excessive iron in the body.
- Testing For Gene Mutation: If elevated levels of iron are identified in the body then testing to look for mutation of the HFE gene is done for confirmatory diagnosis of Hemochromatosis
- Liver Biopsy: This is done if any type of damage is suspected in the liver
- Genetic Test Of Family Members- Apart from this, genetic testing is highly recommended for each and every first-degree relative of an affected individual, although if HFE mutation is identified in only one parent then the children need not be tested because for development of this disease mutation in both parents is required.
Treatment for Hemochromatosis or Iron Overload
A. Iron Control-
a. Iron Chelation Therapy 7
- Excess iron is removed from blood
- The medications used binds iron and excreted through feces or urine.
- Medications prescribed for iron chelation are given as pills or injections.
b. Removal of Blood- 7
- Hemoglobin stored in red blood cells is removed from blood by phlebotomy.
- Phlebotomy is removal of blood.
- Cannula is inserted into the vein and blood is removed periodically.
- The volume of blood removed is 250 to 450 ccs of blood. Volume of the blood removed depends on height and weight of the patient.
- Procedure is repeated every 3 to 4 months.
B. Conservative Treatment of Hemochromatosis or Iron Overload
- Diet Changes-
- Avoid iron containing vegetables and fruits
- Avoid uncooked fish and shellfish
- Avoid Iron Intake-
- Iron pills or iron injections
- Multivitamins that contains iron.
- Avoid Alcohol-
- Alcohol causes liver disease and results in cirrhosis.
C. Treatment of Complications Involving Hemochromatosis or Iron Overload
- Treatment of Diabetes
- Anti-diabetic Pills
- Insulin injection
- Treatment of Irregular Heart Beats
- Anti-arrythmic medication
- Treatment of Liver Disease
- Diet control
- Intravenous fluid
- Vitamin B12, D, E and K supplement.
Complications Of Hemochromatosis or Iron Overload
Some Of The Complications Of Hemochromatosis or Iron Overload Are As Follows:
- Cirrhosis- Liver disease caused by iron deposits in liver
- Diabetes- Iron deposits of pancrease causes decreased secretion of insulin resulting in diabetes.
- Heart Conditions
- Reproductive Issues
- Skin Discoloration
- Foods High in Vitamin D and Iron
- Is Vitamin D Helpful For Joint Pain?
- What is Hypovitaminosis D or Vitamin D Deficiency & How is it Treated?
- Can Vitamin D Deficiency Cause Back Pain
- What Happens if You Don’t Get Enough Vitamin D?
- Iron Deficiency in Teenage Girls: Causes, Symptoms, Treatment
1. Detecting hereditary hemochromatosis.
Nurse Pract. 2000 Jul;25(7):64, 69, 73-6.
2. Genetic and phenotypic expression of hemochromatosis in Canadians.
Borwein ST, Ghent CN, Flanagan PR, Chamberlain MJ, Valberg LS.
Clin Invest Med. 1983;6(3):171-9.
3. Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.
Ristić S1, Lovrecić L, Brajenović-Milić B, Starcević-Cizmarević N, Jazbec SS, Sepcić J, Kapović M, Peterlin B.
Neurosci Lett. 2005 Aug 5;383(3):301-4.
4. Musculoskeletal disease burden of hereditary hemochromatosis.
Sahinbegovic E1, Dallos T, Aigner E, Axmann R, Manger B, Englbrecht M, Schöniger-Hekele M, Karonitsch T, Stamm T, Farkas M, Karger T, Stölzel U, Keysser G, Datz C, Schett G, Zwerina J.
Arthritis Rheum. 2010 Dec;62(12):3792-8.
5. Diagnosis and treatment of hereditary hemochromatosis: an update.
Kanwar P1, Kowdley KV.
Expert Rev Gastroenterol Hepatol. 2013 Aug;7(6):517-30. doi: 10.1586/17474124.2013.816114.
6. Effect of iron overload on glucose metabolism in patients with hereditary hemochromatosis.
Hatunic M1, Finucane FM, Brennan AM, Norris S, Pacini G, Nolan JJ.
Metabolism. 2010 Mar;59(3):380-4. doi: 10.1016/j.metabol.2009.08.006. Epub 2009 Oct 7.
7. A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment.
McDonnell SM1, Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC, Yip R.
Am J Med. 1999 Jun;106(6):619-24