Thanks to the generous support of donors, the Charity has funded specialist equipment to be used by King’s researchers looking into the factors that cause sickle cell disease.


Combating a growing problem

More people suffer from sickle cell disease (SCD) than from any other inherited blood condition in the world. The number of UK cases is growing faster than any other serious genetic disease – but there is still limited understanding of the disorder.

 

What is SCD? It causes some red blood cells to become hard, sticky and crescent-shaped – like sickles. These cells die prematurely, causing tiredness and excruciating pain, sometimes so severe that such an episode can cause a stroke or acute chest syndrome. The average life expectancy of a sufferer is about 50.

 

Professor Swee Thein, clinical director of the red cell centre at King’s College Hospital, leads a ground-breaking research team that discovered two of the three major genetic controls of foetal haemoglobin (HbF), one of the leading factors in the severity of SCD.


Professor Swee Thein

The sickle cell gene bank

 

King’s is pioneering an initiative called the sickle cell gene bank, the first of its kind in the UK. This is a collection of DNA samples from patients that Professor Thein’s team use to study genetic factors of the disease. This is the only team in the UK doing basic scientific research in the field of SCD.

 

Donations have provided specialist equipment for the team to carry out this research, including a freezer and storage system for the samples and a NanoDrop instrument to ensure accurate measurements.

 

This equipment will help the team to find ways of predicting the severity of the disease, which could lead to more targeted treatment before symptoms occur. The overall aim is to reduce pain and prolong life expectancy for SCD sufferers.

 

Researchers are also looking into the effects of weather and air quality on SCD, and are trialling new drugs to treat the conditions.

 

Donations have funded Claire Shooter, a PhD research student supporting the team in ground-breaking work looking at improving non-invasive methods of prenatal diagnosis.