Dear Ask The Doctor: Lab data below: Ferritin 22 to 322 std range: 373 ng per ml May 2011 Transferrin saturation 15 to 60 pct std range: 61% May 2011 Iron 41 to 196 std range: 166 IBC unsaturated 100 to 315 std range: 104 TIBC 236 to 404 std range: 270 ALT std range 36: 41 on May 2011, 47 on Dec 2010, 48 on Sept 2010, 29 on March 2010 AST 10 to 40 std range: 24 on May 2011, 26 on Dec 2010, 22 on Sept 2010, 18 on March 2010 I spoke with GI doctor again. He said I could do a HFE gene test next time I need bloodwork; however, he seriously doubts that I have hemochromatosis. Given that I am asian, I'm guessing I'll be negative on HFE test, but couldn't I have non-HFE Hemochromatosis? Is a fasting test result of 60 pct transferrin sat and 370 ferritin diagnostic for hemochromatosis? All the research papers suggest 45 pct transferring sat and 250 ferritin cutoff for screening hemochromatosis, or a more stringent fasting 55pct transferring sat pct and 350 ferritin cutoff for diagnosing hemochromatosis. My GI doctor thought it very unlikely that I have hemochromatosis and he was not concerned at all about the transferrin sat pct and ferritin. However, he did say I can do HFE test next time I need bloodwork but to wait until then. Given my asian ethnicity, I'm guessing the HFE test will probably be negative. Still, if my HFE test is negative, does that mean I don't need to worry anymore, or should I ask for follow up transferrin sat pct test and follow up ferritin test to monitor if those levels remain elevated. Am I worrying too much or should I keep pushing GI Dr for periodic follow up ferritin and TIBC panel even if HFE test is negative to see if transferrin sat pct and ferritin remain high? Are there any other conditions that can cause elevated transferrin and ferritin
Dear Worried: Hemochromatosis occurs when too much iron builds up in the body raising the TIBC and ferritin levels. There are two forms of hemochromatosis: primary and secondary. Primary hemochromatosis is caused by a specific genetic problem that causes too much iron to be absorbed leading to iron overload. Secondary or acquired hemochromatosis can be caused by various conditions such as thalassemia, sideroblastic anemia, hemolytic anemia, myelodysplastic syndrome - a disorder in the production of red blood cells or in case of recipient of large number of blood transfusions. Hemochromatosis may also be seen with chronic malnutrition, alcoholism, liver inflammation or cirrhosis. Thus you may need further evaluation for the identification of the underlying cause and regular up needs to be continued.