Hemochromatosis

Hemochromatosis is an inherited disorder of congenital iron metabolism, which is caused by the presence of two chromosomal mutations in chromosome 6. Hemochromatosis patients absorb more iron than the body needs. When the body is unable to get rid of excess iron, the excess iron gradually deposits on tissues and organs. Eventually, iron overload causes dysfunction and failure in many organs, especially the endocrine parts of the heart, liver and pancreas. Complications include arthritis, diabetes, liver cirrhosis, arrhythmia and heart failure. A high-iron diet, heavy blood transfusion, or systemic diseases that result in excessive iron accumulation in the body may lead to hemochromatosis.

Diagnosis of Hemochromatosis

The methods of hemoglobin diagnosis include:

• Blood test. It mainly detects the content of serum transferrin saturation and serum ferritin, which are two key factors of iron overload. The above two results of the patient are abnormally increased. Since many other conditions can also cause an increase in ferritin, it may be necessary to repeat the test to obtain more accurate results. People with abnormal iron tests should also undergo genetic tests to confirm the diagnosis.
• Liver function test. Help to identify liver damage.
• Magnetic resonance imaging (MRI). MRI is a fast, non-invasive method that can detect the degree of iron overload in the liver.
• Genetic diagnosis. If the iron content in the blood is high, genetic mutation tests for DNA are recommended. Available genetic tests include C282Y, H63D and S65C for genotype clinical diagnosis and first-degree relative screening.
• Liver biopsy. Check the liver tissue samples for the presence of iron and evidence of liver damage, especially scars or cirrhosis.

Advantages of Our Products

Creative Biogene provides genotyping test kits for point mutations related to hemochromatosis. The test kits detect the C282Y, H63D and S65C mutations in the HFE gene and perform genotyping. The kits contain all the necessary reagents required for analysis, and the operation is simple and convenient. The components in the kits are optimized by experiments to ensure higher detection sensitivity.

Creative Biogene has a professional team of experts who developed quality hemochromatosis diagnostic products. We will uphold the belief of pursuing high quality and the spirit of professionalism to provide you with our optimal products. You can choose us without hesitation.

Please contact us for more details.

Reference

1. Cardoso S P., et al. (2011). "Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay." Tissue Antigens. 78.3: 171-177.