Our blood is a window to our health. Doctors look at biomarkers in our blood to determine our health status. These molecules can indicate if any abnormal processes are taking place, which could indicate a disease. However, the process behind blood measurements is extremely complex and results can vary significantly between different methods and laboratories. This poses a major challenge for diagnosis or therapeutic intervention.
To help standardize blood tests performed by different laboratories, the JRC develops Clinically Certified Reference Materials (CRMs). These control materials form the basis for reliable and stable clinical measurements. A CRM usually comes in a “bottle”, a sample with a known amount of what is being measured, like a gold standard for laboratory testing. When laboratories use these CRMs, they can be confident that their results are correct and accurate.
The JRC has now launched a new CRM to help fight beta-thalassemia. This genetic blood disorder reduces the production of hemoglobin, the iron-containing protein in red blood cells that carry oxygen throughout the body. It can lead to severe anemia and may require patients to receive lifelong blood transfusions. In extreme cases, untreated beta-thalassemia can lead to death.
The disease occurs worldwide but is more prevalent in Mediterranean countries. In Italy, about 6% of the population carries the gene, in Greece 8.1% and in Cyprus 12%.
Detection of beta-thalassemia
Beta-thalassemia is passed on from parents who may not even know they carry the gene because they may not have symptoms. However, if both parents carry the gene, their child may suffer from the disease.
Healthy carriers and patients have higher levels of a specific type of hemoglobin called HbA2. To identify potential carriers, HbA2 tests are used to screen couples planning to have children. If both prospective parents are carriers, they may opt for further prenatal testing or preimplantation genetic testing to see if their child may be affected.
Existing tests are not accurate enough to always identify carriers, and diagnoses may vary depending on the test kit used. The JRC has now developed two new reference materials that manufacturers can use to improve the accuracy of their beta-thalassemia tests. These CRMs improve existing tests and help eliminate any discrepancies between test results, regardless of the brand of test kit used. These materials are the first internationally available CRMs developed to help identify beta-thalassemia carriers and patients, and represent an important step forward in the fight against the disease.
How the JRC guarantees reliable blood analysis
KRC has decades of experience producing clinical CRMs for a variety of purposes, from routine blood tests to the detection of chronic diseases such as Alzheimer’s and diabetes.
For example, in 2017, the JRC launched a CRM for cerebrospinal fluid biomarkers. This fluid is very valuable because it is in direct contact with the brain and can reflect biochemical changes associated with Alzheimer’s disease. Hence, CRM enables early and more accurate detection. The JRC is currently developing two additional CRMs to further improve the detection of Alzheimer’s disease.
In addition, the JRC is developing a CRM for celiac disease, a chronic immune system disorder caused by the ingestion of gluten. This will be the first CRM for this disease.
