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The typical constellation of findings is indicative: The patients show a postprandial non-responsive and too low and static transferrin level (hypotransferrinemia) with high transferrin saturation (usually > 55 %) and low ferritin value. Multiple tests are obligatory due to physiologically induced fluctuations.
Fasting transferrin saturation is a better test to detect HH. [14] [55] Transferrin saturation greater than 62% is suggestive of homozygosity for mutations in the HFE gene. [56] Ferritin, a protein synthesized by the liver, is the primary form of iron storage within cells and tissues.
Transferrin saturation Ferritin Transferrin receptor Related tests Hb MCV Iron deficiency anemia: Iron overload (hemochromatosis) * Normal Anemia of chronic disease * * Porphyria cutanea tarda (PCT) Normal Thalassemia Sideroblastic anemia * Megaloblastic anemia: Hemolytic anemia * * * * Pregnancy or use of hormonal contraception: Normal
Percent transferrin saturation; Iron deficiency anemia: Low High. The liver produces more transferrin, presumably attempting to maximize use of the little iron that is available. Low, as there is insufficient iron. Anemia of chronic disease: Low, as the body holds iron intracellularly with ferritin. Low.
Serum iron is a medical laboratory test that measures the amount of circulating iron that is bound to transferrin and freely circulate in the blood. Clinicians order this laboratory test when they are concerned about iron deficiency, which can cause anemia and other problems. 65% of the iron in the body is bound up in hemoglobin molecules in red blood cells.
Serum ferritin testing is a low-cost, readily available, and minimally invasive method for assessing body iron stores. However ferritin levels may be elevated due to a variety of other causes including obesity, infection, inflammation (as an acute phase protein), chronic alcohol intake, liver disease, kidney disease, and cancer.
This is in contrast to transfusional iron overload in which iron deposition occurs first in the reticuloendothelial cells and then in parenchymal cells. This explains why ferritin levels remain relative low in Hereditary hemochromatosis, while transferrin saturation is high. [23] [24]
For this reason, low ferritin levels carry more information than those in the normal range. A falsely low blood ferritin (equivalent to a false positive test) is very uncommon, [35] but can result from a hook effect of the measuring tools in extreme cases. [36] Low ferritin may also indicate hypothyroidism, [37] vitamin C deficiency or celiac ...