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Primary Hemochromatosis – Symptoms, Diagnosis And Treatment


Primary Hemochromatosis

Primary hemochromatosis is a systemic genetic disease characterized by deposition of iron in parenchymal organs (especially liver, spleen, etc.)  and by the appearance of liver cirrhosis, diabetes mellitus, skin pigmentation, heart disease and hypogonadism. Is also called tanned diabetes, because the liver disease is associated with diabetes and specific pigmentation of the skin.

Primary Hemocromatosis


The etiology of primary hemochromatosis is unknown. It is described a secondary form, which occurs when the body is overload with iron:  red blood cells diseases (sideroblastic anemia, thalassemia major), oral ingestion of iron, liver disease (alcoholic cirrhosis, porphyria cutanea tarda). There may be a secondary iron overload in chronic hemodialysis or blood transfusion.

Storage of iron in liver is correlated with age, hepatotoxicity depends on the concentration of iron in the liver and on the duration of exposure. Liver iron load is progressively and later will appear fibrosis and in the end, cirrhosis.


Symptoms occur most often after 40 years in men, the ratio men / women is 5-8/1.

Classic triad of symptoms of primary hemochromatosis is:

  1. Hepatomegaly. Hepatic manifestations occur early, especially hepatomegaly, which appears in asymptomatic phase of the disease. In terminal stages of primary hemochromatosis, the patient will develop cirrhosis, splenomegaly and jaundice.
  2. Diabetes. At 50% – 60% of cases of primary hemochromatosis, diabetes is the result of iron toxicity over the pancreatic beta-cells.
  3. Skin pigmentation. Occurs in late stages of primary hemochromatosis and especially affects the exposed areas of the skin. It is due to excess of melanin and not due to iron storage in the skin.

Other events associated with primary hemochromatosis are:

  • Cardiac: congestive heart failure, as an expresion of dilated cardiomyopathy;
  • Symmetrical arthropathy, usually affects proximal interphalangeal and metacarpofalngeal joints, spine and knees.
  • Endocrine: gonads failure, decreased libido and amenorrhea.
Primary Hemocromatosis

Primary Hemocromatosis


Diagnosis is mainly based on laboratory exploration. Paraclinical exploration which are used for the diagnosis of primary hemochromatosis are addressed to iron metabolism:

  • Increased transferrin saturation coefficient, over 45%;
  • Increased serum ferritin over 200 ng / ml in men and 250 ng / ml in women;
  • Increasing levels of iron in the blood over 175 mg%.

The excess of iron from the tissues can be tracked by MRI or biopsy.


Primary hemochromatosis has a long-term evolution, survival from the moment of diagnosis, is usually for 5 years. Death ocuurs due to liver failure or due to heart failure, through the complications of diabetes or liver cancer, because there is an increased risk for the development liver cancer. Prognosis is favorable in case of early diagnosis and treatment and is reserved in the advanced stages associated with cirrhosis.


Are excluded foods rich in iron (spinach, liver, etc.)  and alcohol.  Drugs which are containing iron are contraindicated.

Phlebotomy is most efficiently therapy and should be done 1 or 2 sessions per week in order to remove 250 mg iron / session. In symptomatic patients are needed about 70 phlebotomies in 2-3 years.

Primary Hemocromatosis

Primary Hemocromatosis

Criteria for assessment of phlebotomy are:

  • Hematocrit decreased by 5% – 10% below normal;
  • Coefficient of transferrin saturation below 45%;
  • Serum ferritin below 50 ng / ml.

After reaching these goals will be done 2 to 3 phlebotomies per year for maintenance.

Iron chelating agents are indicated in patients with anemic syndromes or chronic kidney failure.