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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]
The diagnosis of haemochromatosis is often made following the incidental finding on routine blood screening of elevated serum liver enzymes or elevation of the transferrin saturation or elevated serum ferritin. Arthropathy with stiff joints, diabetes, or fatigue, may be the presenting complaint.
[7] [8] Risk factors for the development of arthritis in those with hemochromatosis include elevated iron levels (ferritin greater than 1000 or transferrin saturation greater than 50%) for an extended period of time, increasing age and concurrent advanced liver fibrosis. [7] skin: melanoderma (darkening or 'bronzing' of the skin). [8] [9]
Transferrin saturation (TS), measured as a percentage, is a medical laboratory value. It is the value of serum iron divided by the total iron-binding capacity [1] of the available transferrin, the main protein that binds iron in the blood, this value tells a clinician how much serum iron is bound. For instance, a value of 15% means that 15% of ...
Elevated serum ferritin, an indicator of blood iron levels, and transferrin saturation, which is involved with absorption of iron from the gut, are very common. [2] [3] Transferrin saturation may approach or reach 100%, where a normal value would lie between 16% and 45%. If transferrin saturation is normal, juvenile hemochromatosis can be ruled ...
Transferrin and TIBC 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.
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.
Serum Iron: high; increased ferritin levels; decreased total iron-binding capacity; high transferrin saturation; Hematocrit of about 20-30%; The mean corpuscular volume or MCV is usually normal or low for congenital causes of sideroblastic anemia but normal or high for acquired forms.