Iron Metabolism-related Haemochromatosis Research Service
Hemochromatosis is defined as a systemic iron overload of genetic origin, caused by reduced concentrations of the iron-regulating hormone ferroregulin or reduced ferroregulin-iron transporter protein binding. The primary treatment is phlebotomy, and iron chelators may also be used in some patients. Protheragen offers a wide range of research services related to hemochromatosis to assist our clients with relevant drug development and pathology studies.
Pathology of Hemochromatosis
Hemochromatosis is defined as a systemic iron overload of genetic origin, caused by reduced concentrations of the iron-regulating hormone ferritin or reduced ferritin-iron transporter protein binding. The most common form of hemochromatosis is due to a pure mutation in HFE, which encodes the hereditary hemochromatosis protein. Non-HFE forms of hemochromatosis caused by mutations in HAMP, HJV or TFR2 are much rarer.
| Category | Pathogenic Mechanism |
|---|---|
| Haemochromatosis Type 2B | This form of hemochromatosis is inherited in a recessive manner and is caused by pure or compound heterozygous mutations in the coding sequence of the HAMP gene. |
| Haemochromatosis Type 2A | Pureton mutations in HJV cause type 2A hemochromatosis, and these mutations impair the upregulation of HAMP transcription in response to increased cellular iron stores by limiting the activity of the BMPR-HJV-SMAD pathway. |
| Haemochromatosis Type 3 | Mutations in TFR2 can also lead to haemochromatosis, corresponding to haemochromatosis type 3. The phenotype is usually intermediate between HFE-associated, HJV-associated and HAMP-related haemochromatosis. |
Hemochromatosis Clinical Manifestations
Patients with hemochromatosis suffer from an inappropriate increase in intestinal iron absorption, resulting in excessive iron storage in substantial cells of the liver, heart and pancreas, leading to degenerative and diffuse fibrosis, metabolic and functional malfunction of tissues and organs. The main clinical features are skin pigmentation, cirrhosis of the liver, and secondary diabetes mellitus.
Iron homeostasis in humans and its derangement in hemochromatosis[1].
Hemochromatosis Diagnostic Program
- Peripheral Blood Tests
- Serum Iron (SI) Level Test
- Serum Ferritin
- Transferrin Saturation Test
- Genetic Testing
- Liver Tissue Examination
There is no effective curative therapy, and commonly used treatments include removal of excess iron from the body and supportive therapy for damaged organs. Once identified, patients with this disease should be treated immediately to reduce the body iron load as soon as possible to bring the body iron level to normal or near-normal levels, which is the best way to prolong survival and reverse tissue damage.
Our Services
Protheragen has been working on iron homeostasis related diseases for many years and has a complete protein assay platform and equipment to provide diverse solutions for hemochromatosis research according to the different needs of our clients. We will customize our technical solutions to meet the specific needs of our customers to solve all the problems found in their research on this disease.
Hemochromatosis Animal Model Construction
We establish animal models of hemochromatosis by mutating HFE in mice, and regularly observe hemoglobin content, red blood cell count, hematocrit, and measure serum iron, serum ferritin, ferritin saturation, and total iron binding capacity to help our clients study the mechanisms involved in hemochromatosis.
Hemochromatosis Genetic Assay
Hemochromatosis is an autosomal recessive genetic disorder. We provide HFE mutations (C282Y, H63D) associated with hemochromatosis through our well-established sequencing platform, helping our clients to investigate the genetic and pathogenic mechanisms of the disease.
Iron Metabolism Detection in Hemochromatosis
We offer a wide range of iron metabolism assays and testing services to help our clients investigate the relationship and potential mechanisms of iron metabolism and hemochromatosis, laying the foundation for subsequent drug development and treatment.
- Transferrin Saturation Levels
- Serum Ferritin
- Liver Iron Concentration
Why Choose US?
Protheragen has a professional team and advanced equipment, and the whole process is operated by experienced technicians to provide our customers with iron metabolism related diseases research services. If you have any needs, please contact us.
Reference
- Mettananda S, et al. α-Globin as a molecular target in the treatment of β-thalassemia[J]. Blood, The Journal of the American Society of Hematology, 2015, 125(24): 3694-3701.