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| Iron Overload and Hemochromatosis
E-Newsletter No. 51Disease of significant iron overload, accumulation of excessive iron in body tissues. Genetic and Non-Genetic Causes
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).
Signs of gonadal failure
Anenorrhea, early menopause
Loss of libido, impotence
Shortness of breath, Dyspnea
LFTs (liver function tests)
Chronic abdominal pain
Severe fatigue, Hypopituitarism
Liver cirrhosis, Liver cancer
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
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:
Recommended laboratory tests for the workup of a patient you suggest may have hemochromatosis are:
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|
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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