Hereditary hemochromatosis poses a challenge to diagnosis given its wide range of symptoms and associated vague signs. Protheragen seeks to harness the latest technologies and know-how in the industry to develop IVD solutions that qualitatively and quantitatively capture the relevant biomarkers of hereditary hemochromatosis. We bolster the design of high-quality assays and tools that are intended for the early detection and effective management of hereditary hemochromatosis.
Overview of Hereditary Hemochromatosis
Hereditary hemochromatosis is a metabolic disease marked by excessive absorption of dietary iron and its resulting overload in the body. It is thought that this condition stems from mutations in the HFE gene, particularly the C282Y and H63D mutations. Failure to acknowledge and manage such a condition will result in excessive iron deposits into vital organs like the liver, heart, and pancreas. This poses a high risk for cirrhosis of the liver, diabetes, cardiomyopathy, and even arthritis.
Fig. 1 Mechanisms of intestinal iron absorption. (Crawford, Darrell HG, et al., 2023)
Diagnostic Biomarkers for Hereditary Hemochromatosis
The precise diagnosis of hereditary hemochromatosis depends on a medical history review, genetic testing, and assessment of specific iron metabolism biomarkers. The verification of iron overload and hereditary haemochromatosis relies heavily on these biomarkers. The following are the primary diagnostic biomarkers:
Serum Ferritin
Serum ferritin serves as an indicator for the body’s stored iron levels. Serum ferritin levels greater than normal reflect the main sign of iron overload, and are most often one of the earliest indicators of hemochromatosis. However, inflammation also influences the ferritin levels and these are often used in combination with other tests.
Transferrin
Transferrin saturation assesses the fraction of the iron binding sites on transferrin occupied by iron. In hereditary hemochromatosis, transferrin saturation is usually high (>45%), which implies that there is an excess supply of iron to the tissues. This marker is very sensitive for diagnosing iron overload at an early stage.
HFE Gene
Mutation analysis of the HFE gene, specifically the C282Y and H63D mutations, is critical in the conclusive diagnosis of hereditary haemochromatosis. These mutations establish the underlying genetic factor of the disease and serve to distinguish hereditary haemochromatosis from numerous other secondary iron overload conditions.
IVD Kits for Hereditary Hemochromatosis
It is particularly important to develop in vitro diagnostic (IVD) kits for hereditary hemochromatosis since the disease usually presents with nonspecific symptoms that make it difficult to diagnose only through medical examination. Modern IVD technologies provide healthcare practitioners with appropriate simplification of accurate tools for the early diagnosis of hereditary hemochromatosis for subsequent timely management and better therapeutic outcomes.
| Kit |
Application |
Detection Method |
| HFE Gene Mutation Detection Kit |
Identification of common HFE gene mutations, such as C282Y and H63D. |
Real-time PCR |
| Serum Ferritin Assay Kit |
Measurement of serum ferritin levels to assess iron storage. |
ELISA |
| Iron and TIBC Assay Kit |
Determination of serum iron and total iron-binding capacity (TIBC) to calculate transferrin saturation. |
Colorimetric Assay |
Our Services
Protheragen specializes in developing IVD solutions for unique metabolic disorders, such as crafting cutting-edge gene and metabolite testing kits that detect DNA and metabolism anomalies. Moreover, our commitment towards developing additional diagnostic devices for hereditary hemochromatosis remains steadfast.
Featured IVD Kit Development Services
- HFE Gene Mutation Detection Kit
- Serum Ferritin Assay Kit
- Transferrin Saturation (TSAT) Assay Kit
- Serum Iron Assay Kit
- Hepcidin Assay Kit
- Point-of-Care (POC) Testing Kit
- Iron Overload Prediction Kit
- More
IVD Product Development Services
Also, our services encompass point-of-care testing (POCT) and companion diagnostic development specific for hereditary hemochromatosis. These services help in the quick identification and individualized therapeutics the diseases. For service inquiries, please get in touch for the information and estimates relevant to our offered services.
Reference
- Crawford, Darrell HG, et al. "Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver." Hepatology International 17.3 (2023): 522-541.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
