Epidemiology and diagnostic testing for hemochromatosis and iron overload

Abstract

Summary Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase in most patients, which can lead to cirrhosis of the liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as the serum ferritin and transferrin saturation are useful to suggest the diagnosis which can be confirmed in most cases with a simple genetic test for the C282Y mutation of the HFE gene. However, these blood tests are often misinterpreted and there are rare patients with iron overload without HFE mutations. A diagnostic approach is presented based on a large referral practice and a population‐based study (HEIRS) which screened for iron overload in 101 168 participants.

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

“…The second clinical comment concerns the autosomal recessive nature of HFE-related hemochromatosis, so that a heterozygous mutation in HFE gene will not lead to hemochromatosis. It has been reported that among HFErelated hemochromatosis, p.C282Y homozygotes accounts for 95%, p.C282Y/H63D compound heterozygotes and p.H63D homozygotes accounts for 4%, 1%, respectively (Adams, 2015). However, the responsibility of the latter two genotypes in causing hemochromatosis remains highly debated (Porto et al, 2016).…”

Inflammatory and oxidative status in European captive black rhinoceroses: a link with Iron Overload Disorder?

“…We hypothesized that transferrin from rhinoceroses was not as pH-sensitive as human transferrin, and that pH variations were not adequate to accurately measure TIBC in this species, leading to underestimated values. Other methods, such as evaluation of unbound iron binding capacity (UIBC) might be more suitable to calculate Transferrin Saturation in rhinoceroses, as reported in humans [41,42].…”

Secondary Hemochromatosis due to Chronic Oral Iron Supplementation

“…The relationship of serum ferritin and total body iron stores has been clearly established. As the ferritin increases, the risk of significant liver disease rises [5]. It may be elevated in the absence of iron overload, however, and competing comorbidities such as alcoholic liver disease, hepatic steatosis, or viral infections may confuse the diagnosis because of the clinical similarities.…”