Hemochromatosis is a hereditary disorder characterized by excessive iron absorption. Leveraging our pioneering efforts in hemochromatosis research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of hemochromatosis. As your trusted partner in hemochromatosis diagnostic research, we provide unparalleled support to meet your research needs.

Introduction to Hemochromatosis

Hemochromatosis, or iron overload, is a genetic disorder marked by an abnormal uptake and buildup of iron in various organs, notably the liver, heart, and pancreas. If not addressed, this condition can result in significant health issues. The prevalence of hemochromatosis is relatively high, with approximately 1 in every 300 to 500 individuals affected by this condition. Early diagnosis of hemochromatosis is crucial to prevent organ damage and improve outcomes for affected individuals.

Fig. 1 Pathophysiology of hemochromatosis and anemia of chronic disease. (D'angelo, Guido., 2013)

Pathogenesis of Hemochromatosis

The pathogenesis of hemochromatosis is primarily linked to genetic mutations that disrupt the body's regulation of iron absorption and storage.

Genetic Basis

Hemochromatosis is inherited as an autosomal recessive condition. The predominant genetic mutations linked to hemochromatosis occur in the HFE gene, notably the C282Y and H63D mutations, which govern iron absorption and metabolism.

Iron Accumulation

The genetic mutation causes the intestines to absorb more iron from the diet than is needed for normal body function. Excess iron accumulates in tissues like the liver, heart, pancreas, and joints, causing gradual organ damage.

Diagnostic Development for Hemochromatosis

Accurate diagnosis of hemochromatosis is crucial for timely intervention and management of this condition. In vitro diagnostic (IVD) techniques play a pivotal role in detecting and monitoring hemochromatosis. Here are the key strategies for the development of in vitro diagnostics for Hemochromatosis.

Genetic testing is a cornerstone in the diagnosis of hereditary hemochromatosis, particularly focusing on mutations in the HFE gene. Genetic testing kits can be developed to identify mutations such as C282Y and H63D.

Genetic Testing

Serum iron studies encompass a series of tests that evaluate the levels of iron, transferrin saturation, and ferritin in the blood. Elevated serum ferritin levels are indicative of iron overload, a hallmark of hemochromatosis.

Serum Iron Test

Liver function tests are essential to assess liver damage caused by iron accumulation. The levels of enzymes such as alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are indicative of liver function.

Liver Function Test

Our Services

Our company leads in the provision of diagnostic development services for hemochromatosis, delivering a diverse array of IVD solutions to meet the intricate diagnostic requirements of this condition. Our specialization lies in crafting HFE gene detection reagents/kits and enzyme detection reagents/kits tailored for hemochromatosis, enabling early detection and precise diagnosis of this uncommon genetic disorder. Supported by cutting-edge molecular diagnostic equipment, we aim to optimize and automate the diagnostic workflow for improved efficiency.

IVD Product Development Services

Optional IVD Products

We also provide point-of-care diagnostics and companion diagnostics development services for hemochromatosis. These services enable rapid detection of biomarkers associated with hemochromatosis, facilitating early diagnosis and personalized therapeutic strategies tailored to affected individuals.

If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.