Developing Better Sickle Cell Screening - Chromatography Explores

Sickle cell disease is a disease that can affect anyone, although it is predominantly associated with people of African or Caribbean origin. It affects people all over the world. It is not a disease that can be caught from another person, rather it is a genetic condition - which, although it is serious and lifelong - can be managed with treatment.

In the UK, all pregnant women are offered a screening test if there is a risk that a child could be born with the condition, and all babies are tested upon birth. But this is not always the case in other countries around the world, including Italy. A recent paper published in the International Journal of Neonatal Screening - Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease - has looked at the development of improved screening techniques for the disease in Italian babies. And chromatography plays a role.

Sickle cell disease - brief intro

Sickle cell disease is a condition inherited from both parents. Both parents have to pass the faulty gene onto their offspring. Sickle cell trait is a condition where a person carries one faulty gene for the condition - people with sickle cell trait don’t develop the disease. But, they are at risk of having a child with the disease if their partner is also a carrier of a faulty gene.

People with sickle cell disease produce unusually shaped red blood cells. When these blood cells release the oxygen they carry, they can stick together and block small blood vessels. This can cause severe pain in sufferers, which can be treated with strong painkillers. But the disease can have long term effects on sufferers including stroke, liver and kidney damage - and death. The treatment concentrates on preventing complications.

Detecting Sickle Cell Disease

Whilst the UK has a national screening program for sickle cell disease, that is not the case on Italy - which relies on a regionally organised system. Early detection allows prompt treatment of the condition reducing its impact. The study referenced above describes the technical challenges faced by the team as they set up a pilot screening program.

There are internationally recognised methods used to test for the condition which include capillary electrophoresis and high performance liquid chromatography - a technique discussed in the article, Using Different HPLC Column Chemistries To Maximise Selectivity For Method Development. The team report that the methods used were successful:

‘Our data demonstrate the feasibility of a multicentric SCD screening and indicate the robustness and reliability of the screening system. The data obtained from HPLC analysis were in excellent agreement with the large amount of data present in the literature.’