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Iron Overload and Hemochromatosis

E-Newsletter No. 51

Disease of significant iron overload, accumulation of excessive iron in body tissues. Genetic and Non-Genetic Causes

  • Early symptoms (Sx) are nonspecific (i.e., weakness, fatigue, and arthralgia.)
  • Advanced stages of hemochromatosis can include liver cancer, liver cirrhosis, arthritis, diabetes, and heart failure.
  • Early diagnosis and treatment can prevent the serious complications of hemochromatosis.

In the U.S., it is estimated that 1 of 10 people carry the gene mutation that can lead to iron overloading and possible disease. 1 in 6 can have elevated Transferrin Saturation (TS).

Early Sx
Weight loss
Abdominal pain
Progressive Disease Sx
Signs of gonadal failure
Anenorrhea, early menopause
Loss of libido, impotence
Shortness of breath, Dyspnea
Advanced Disease Sx
LFT’s (liver function tests)
Chronic abdominal pain
Severe fatigue, Hypopituitarism
Cardiomyopathy, arrythmia
Liver cirrhosis, Liver cancer
Heart failure
Grey or Bronze Skin pigmentation

Goal: Reduce Ferritin (Fasting) level to ~20mg/ml (25-50mg/ml) lifetime. Liver biopsy only of SF>1000mg/ml
Monitor before every additional 1 or 2 treatments before SF<100mg/ml

Clinical course can be affected by excess iron in the diet, alcohol use, Vitamin C intake, infections, iron lost thru blood donations, and menstruation, and other environmental factors (e.q., alcohol use may worsen the disease, whereas iron loss thru phlebotomy or menstruation may lessen the severity).

Diagnosis: Elevated tranferrin Saturation and Serum Ferritin
Treatment: Phlebotomy; 250mg/1unit of whole blood, once or twice weekly until excess Fe is removed as indicated by monitoring Hemoglobin(Hgb) and Serum Ferritin Concentration

Monitor SF every 4-8 weeks:
200mgFe=500ml bloodx15phlebotomies=3g Fe

Biochemical Tests include:

  • Serum Iron (SI)
  • Total Iron Binding Capacity (TIBC)
  • Unsaturated Iron Binding Capacity (UIBC)
  • Transferrin Saturation (TS)
  • Serum Ferritin (SF)

Recommended laboratory tests for the workup of a patient you suggest may have hemochromatosis are:

  • Fasting transferrin Saturation Test (TS)
  • SI and either TIBC or UIBC are usually used to calculate TS.
  • TS=(SI/TIBC´100)
  • TS=(SI/SI+UIBC´100)
  • Serum Ferritin Test

Note: Due to patient compliance issues, a TS value obtained from a non-fasting blood draw can be used to screen a patient for iron overload. Non-fasting TS values greater than 60% indicate iron overload. Non-fasting values between 45% and 60% are considered evidence of borderline elevation. A repeat TS from a fasting blood draw should be drawn.

Interpreting the results of a fasting transferrin saturation (TS) test:

Transferrin Saturation % Interpretation Action
<16% Low Consider iron deficiency
16-45% Normal Reassure patient that he or she does not have iron overload, return to usual care*
>45% Elevated Proceed with serum Ferritin tests and additional work up as warranted
  • Factors that falsely elevate TS values: Vitamin C, dietary supplements containing iron, medicinal iron, estrogen preparations. Patients should be advised to avoid these products for 24 hours prior to the fasting blood draw.
    The placebos in some oral contraceptive packages may contain iron and also should be avoided for 24 hours prior to the fasting blood draw.
  • Colds, inflammation, liver disease and malignancies can falsely lower TS values.
  • Pathologic blood loss or a history of frequent blood donations should be considered reasons for normal iron status in patients who have symptoms consistent with chemochromatosis.

Note: Patients with nonalcoholic steatohepatitis can exhibit normal TS but may exhibit elevated SF.

SF should be checked every two years in normal patients. Serum Ferritin test results>200 for premenopausal and >300 for postmenopausal females, and >300 for males in the absence of other causes cancer, inflammatory or injections processes warrants iron removal via phlebotomy and confirmation of hemochromatosis.

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