New certified clinical reference materials show promise in fight against beta-thalassemia

The European Commission’s Joint Research Centre (JRC) has released two new CRMs certified for their content of a specific type of haemoglobin called HbA2. HbA2 tests are used to identity patients and carriers of the genetic disorder beta-thalassemia. These CRMs can help to improve the accuracy of the HbA2 tests.

Beta-thalassemia is a genetic blood disorder that causes a reduced production of haemoglobin, the iron-containing protein in red blood cells carrying oxygen throughout the body. It can lead to severe anaemia and may require patients to receive lifelong blood transfusions. In extreme cases, untreated beta-thalassemia may lead to death.?

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

Healthy carriers and patients have higher levels of a specific type of haemoglobin 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.?

In collaboration with the scientists from the IFCC working group on the standardisation of HbA2, the JRC has developed two new reference materials: ERM?-DA485/IFCC and ERM?-DA486/IFCC. These CRMs are blood haemolysate materials certified for the amount-of-substance fraction of HbA2 versus total haemoglobin, produced within the scope of ISO 17034 accreditation. Homogeneity and stability of the three materials were carefully assessed and the materials were characterised by a reference method through an interlaboratory comparison.?

These CRMs can be used by the manufacturers to improve the accuracy of their existing HbA2 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.