Haemoglobin is a substance in red blood cells that carries the oxygen throughout the body. It’s often made of various globin or polypeptide chains, where the heme molecules contain iron. Those chains combine and make the haemoglobin. Usually, there are two beta and two alpha globin chains.
However, haemoglobinopathies are recessive and inherited genetic conditions that affect the haemoglobin in the blood. They’re caused by a mutation (genetic change) within the haemoglobin.
Many of those unusual genes are insignificant, but there could be a genetic relevance to haemoglobinopathies that combine with other variants to cause significant illness or death. Children could develop thalassaemia and sickle cell disease or could be a carrier.
Overall, neonatal testing is a great way to check for haemoglobinopathies. This will help parents understand that their children may have severe health problems early and later in life. Likewise, it will give them the ability to prepare for the special needs these kids might require at birth and beyond.
The Test Available
GeneSys is a neonatal screen for haemoglobin variants. It was created in 2008 and is the first system offering a fully automated approach to newborn screening. Likewise, it can positively identify all the major haemoglobin variants in infants. Labs can now run confirmatory tests altogether and compile any positive results they receive.
Federal law in the US requires newborn babies to be screened for haemoglobinopathies. This means that roughly four million babies in the US get tested for genetic blood disorders, which could have long-term implications. However, many other countries are starting to screen for these variants, which will likely help parents now and in the future.
Trinity Biotech created the GeneSys screening test. It develops and manufactures various diagnostic systems, sending them to laboratories, hospitals, and anywhere else they might be required or needed. It’s crucial to test babies for haemoglobinopathies, and this is the best system for that at this time.
Neonatal testing is crucial to ensure that babies are born healthy and safe. Learn more about haemoglobinopathies and the tests available.
