Research improves diagnosis of genetic blood disorder beta-thalassemia

Doctors examine biomarkers in blood to determine health status. These molecules can indicate if any abnormal processes are taking place, which could point to a disease. However, the process behind blood measurements is highly complex and the results can vary considerably between different methods and laboratories. This poses a major challenge for diagnosis or therapeutic intervention.

To help standardize blood tests carried out by laboratories, the JRC develops clinical 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 with a known quantity of what is being measured, like a gold standard for laboratory tests. When laboratories use these CRMs, they can be confident that their results are correct and precise.

The JRC has now released a new CRM to aid the fight against beta-thalassemia. This genetic blood disorder reduces the production of hemoglobin, the iron-containing protein in red blood cells carrying 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 may lead to death.

The disease occurs worldwide but is more prevalent in Mediterranean countries. In Italy, around 6% of the population carries the gene, in Greece 8.1%, and in Cyprus 12%.

Detecting 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 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 that plan to have children. If both prospective 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 can differ depending on the testing 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 fine tune the existing tests and help eliminate any disagreement between test results, regardless of the brand of testing kit used. These materials are the first internationally available CRMs developed to help identify carriers and patients with beta-thalassemia and are an important step forward in the fight against the disease.

How JRC guarantees reliable blood analysis

The JRC has decades of experience in producing clinical CRMs for a variety of purposes, from standard blood tests to detecting chronic diseases, such as Alzheimer's 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 such, 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 disorder triggered by gluten ingestion. This will be the very first CRM for this disease.

Provided by European Commission, Joint Research Centre (JRC)