Our blood is a window to our health. Doctors examine biomarkers in our blood to determine our health status. These molecules can indicate whether abnormal processes are taking place that could indicate a disease. However, the process behind blood measurements is very 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 is developing clinically certified reference materials (CRMs). These control materials form the basis for reliable and stable clinical measurements. A CRM typically comes in a ‘bottle’, a sample containing a known quantity of what is being measured, as a gold standard for laboratory testing. When labs use these CRMs, they can be confident that their results are correct and accurate.
The JRC has now released a new CRM to support the fight against beta-thalassemia. This genetic blood disorder reduces the production of hemoglobin, the iron-containing protein in red blood cells that transports oxygen throughout the body. It can lead to severe anemia and patients may need lifelong blood transfusions. In extreme cases, untreated beta thalassemia can lead to death.
The disease occurs worldwide, but is more common in Mediterranean countries. In Italy, about 6% of the population carries the gene, in Greece 8.1% and in Cyprus 12%.
Detect beta thalassemia
Beta thalassemia is passed down from parents who may not even know they carry the gene because they may not have any symptoms. However, if both parents are carriers of 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 who plan to have children. If both intended parents are carriers, they can opt for further prenatal screening 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 differ 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 refine existing tests and help eliminate any disagreement between test results, regardless of the brand of test kit used. These materials are the first internationally available CRMs developed to help identify carriers and patients with beta-thalassemia and represent an important step forward in the fight against the disease.
How JRC guarantees reliable blood analysis
The JRC has decades of experience producing clinical CRMs for a variety of purposes, from standard blood tests to detecting chronic diseases such as Alzheimer’s disease and diabetes.
For example, in 2017, the JRC released 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. As a result, the CRM enables earlier 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 disease caused by the ingestion of gluten. This will be the first ever CRM for this disease.