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[34] [35] [36] In premenopausal females, normal range of serum ferritin is between 12 and 150 [34] or 200 [35] ng/mL (330 or 440 pmol/L). [36] In those with hemochromatosis, the serum ferritin level correlates with the degree of iron overload. [7] Ferritin levels are usually monitored serially in those with hemochromatosis to assess response to ...
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]
Studies also revealed that a transferrin saturation (serum iron concentration ÷ total iron binding capacity) over 60 percent in men and over 50 percent in women identified the presence of an abnormality in iron metabolism (hereditary hemochromatosis, heterozygotes and homozygotes) with approximately 95 percent accuracy.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
The ideal is to increase the body's iron deposits, measured as levels of ferritin in serum, with the aim of reaching a ferritin value between 30 and 100 ng/mL. Another clinical study has shown an increase in ferritin levels in those taking iron compared with others receiving a placebo . [ 11 ]
The ferritin levels measured usually have a direct correlation with the total amount of iron stored in the body. However, ferritin levels may be artificially high in cases of anemia of chronic disease, where ferritin is elevated in its capacity as an inflammatory acute phase protein and not as a marker for iron overload. [citation needed]
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]
The goal is to maintain ferritin levels to < 1000 µg/L. [ citation needed ] Currently, two iron chelators are available in the US, deferoxamine for intravenous use and deferasirox for oral use. A third chelating agent is available, deferiprone , but it has limited utility in MDS patients because of a major side effect of neutropenia.
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