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Hemochromatosis (also called iron overload) is the condition in which excess iron is accumulated in various organs of the body resulting in the dysfunction of the organs. The most common organs affected are the liver, heart, pancreas, pituitary, joints, and skin. The most important causes include hereditary hemochromatosis and iron overload due to repetitive transfusion of blood products for other disorders likethalassemia. Symptoms appear in middle age, with hepatic fibrosis being the first sequelae, followed by heart disease, joint pains, and diabetes. This disease causes severe organ complications; hence early diagnosis and treatment are crucial. 


Primary or Hereditary hemochromatosis is caused by genetic mutations due to increased intestinal absorption of iron and continuing iron deposition in the organs.

Secondary hemochromatosis is caused by multiple blood transfusions for severe anemias caused by other diseases like beta-thalassaemia major, sickle cell anemia, etc. It can also be a result of chronic hemolysis. It is mostly attributed to disease of improper blood production, e.g., thalassemia, sickle cell anemia, hereditary spherocytosis, pyruvate kinase deficiency, and X-linked sideroblastic anemia.

Some other causes may include iron supplement transfusion and excess intake of iron in the diet. 


Hemochromatosis can be classified as;

1-Primary Hemochromatosis: It is a genetic disorder caused by mutations of genes and is one of the common diseases affecting the liver inherited from parents. The disorder shows its first signs in middle age and is due to the problems of iron metabolism leading to increased absorption of iron from the intestines. Not all people with the mutation experience symptoms.

2-Secondary hemochromatosis: It most commonly occurs due to the problems of blood production and the treatment of such diseases by recurrent blood transfusion. Once the red blood cells enter the body, they are degraded, and the released iron gets accumulated in the organs.  


Hereditary hemochromatosis is a common disease in white people and affects 1 in 200-500 people in the United States. Most of which belong to the North European region. It is more common in men than women, with a ratio of 1.8:1. The average age of disease is beyond 40 years in men and after 50 years of age in women. 

Risk Factors

The following risk factors can increase your chances of having the disorder.

·         Race: White people from Northern Europe.

·         Male gender

·         Family history

·         Alcohol abuse

Signs And Symptoms

You may feel signs and symptoms related to the organs that are most commonly affected; the liver, heart, and endocrine glands. The symptoms mostly appear in middle age.

·         Feeling unusually tired

·         Irregular heartbeat (cardiomyopathy and arrhythmias)

·         Joint pains (arthritis)

·         Diabetes

·         Darkening of skin

·         Loss of sexual drive

·         Weight loss

·         Jaundice and liver problems (liver cirrhosis)


The diagnosis is made based on the signs and symptoms which might be elicited by your doctor by obtaining a thorough history and performing a physical examination. Some people may not show any symptoms, and they may be diagnosed accidentally on routine blood tests.

Your doctor may advise the following tests;

·         Blood tests: To check for iron levels, transferrin saturation, and ferritin levels.

·         Genetic testing: It is a vital test to identify the mutations and diagnose the disorder

·         Imaging: Chest radiography may be done to evaluate the heart

·         Biopsy: A piece of tissue can be taken from the skin or liver to sent for analysis in the lab 

Differential Diagnosis

Due to the wide range of symptoms, hemochromatosis can resemble the following diseases, which need to be kept in mind while making a diagnosis;

·         Rheumatoid arthritis

·         Biliary cirrhosis

·         Alcoholic liver disease,

·         Ineffective erythropoiesis

·         Porphyria cutanea tarda

·         Beta Thalassemia

·         Hemolytic Anemia


If you feel you are having symptoms of hemochromatosis or any of your family members is diagnosed with the disorder, you should contact your healthcare provider as early diagnosis is key to proper cure before permanent damage is done. The disorder is treated by the following;

Phlebotomy: It is a procedure in which blood and unwanted substances are taken out of the body. It is the most important treatment for hereditary hemochromatosis through which excess iron is taken away from the body.

Chelation therapy: A chelating agent is a substance that attaches the unwanted substances and takes them out of the body with it. Chelating agents used to attach and take away iron from the body are Deferoxamine, Deferasirox, Deferiprone, Iron-binding dendrimers, etc.

Surgery: Surgical procedures might be needed to treat complications. For example, a liver transplant is the only cure for end-stage liver disease. If the joints are damaged beyond repair, surgical arthroplasty is recommended. 


Early diagnosis and commencement of treatment can guarantee a good prognosis. The most important determinant is the presence of fibrosis at the time of diagnosis. In people without liver fibrosis, a normal life span is possible, along with the treatment with phlebotomy.

It may lead to death due to the complications of cirrhosis, diabetes, cardiac disease, and possible liver cancer if left untreated. 

Lifestyle Modifications

You may need to take the following precautions to decrease the amount of damage possible due to the disorder;

·         You must not take iron supplements or multivitamins as they may increase your iron levels.

·         Do not take Vitamin C supplements as it may increase the absorption of iron.

·         You must cut back on alcohol as it increases the risk of liver damage in people with hereditary hemochromatosis.

·         Do not eat raw fish and shellfish as they can cause bacterial infections in people with hereditary hemochromatosis.

Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 20, 2023. 


Hemochromatosis - NIDDK (nih.gov)


Hemochromatosis | NEJM


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