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Diagnosis is based upon identification of symptoms, medical history, family history, and laboratory tests. Blood tests may show high levels of ferritin and low, normal, or high levels of transferrin saturation, depending on the form of hemochromatosis. The diagnosis must be confirmed by genetic testing for SLC40A1 mutations. [14]
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.
Ferritin genes are highly conserved between species. All vertebrate ferritin genes have three introns and four exons. [8] In human ferritin, introns are present between amino acid residues 14 and 15, 34 and 35, and 82 and 83; in addition, there are one to two hundred untranslated bases at either end of the combined exons. [9]
Iron can be stored in ferritin as ferric iron due to the ferroxidase activity of the ferritin heavy chain. [28] Dysfunctional ferritin may accumulate as hemosiderin, which can be problematic in cases of iron overload. [29] The ferritin storage iron pool is much larger than the labile iron pool, ranging in concentration from 0.7 mM to 3.6 mM. [25]
Low, as the body holds iron intracellularly with ferritin. Low. The body produces less transferrin (but more ferritin), presumably to keep iron away from pathogens that require it for their metabolism. This is mainly regulated by increased hepcidin production. Normal Pregnancy or use of hormonal contraception, but without iron deficiency Normal ...
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.
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.
Patients with IRIDA have very low serum iron and transferrin saturation, but their serum ferritin is normal or high. The anemia is usually moderate in severity and presents later in childhood. [22] Hypochromic anemia is also caused by thalassemia and congenital disorders like Benjamin anemia. [23]