Pioneering research into sickle cell disease
Above: Professor Swee Thein, who leads the King’s team conducting ground-breaking research into sickle cell disease.
Donations have enabled us to buy specialist research equipment to support the work of King’s College Hospital researchers who are looking into the genetic factors that influence sickle cell disease.
Sickle cell disease
Sickle cell disease (SCD) is the most prevalent inherited blood condition worldwide. In the UK and northern Europe SCD numbers are growing faster than any other serious genetic disease, yet there is still limited understanding and public awareness of the disorder.
SCD causes the red blood cells to behave abnormally, meaning they become hard and sticky and shaped like sickles (crescents). These red blood cells die prematurely, causing symptoms of anaemia like tiredness and breathlessness. The sickle-shaped cells can also clog blood vessels, leading to acute spells of pain called crises that often require hospital admission. These crises begin suddenly and can last from several minutes to several weeks, with the average crisis lasting for seven days. The pain can be excruciating and can affect any body part, often involving the bones and joints, chest and abdomen. Some crises lead onto stroke and acute chest syndrome, complications that can be fatal if not treated in time.
Recurrent crises and severe anaemia starve tissues in organs and bones of oxygen, leading to failure of organs like the kidneys, heart and chest, which causes early death. The average life expectancy of an SCD sufferer is about 50 years old.
The genetic link
Professor Swee Thein is Professor of Molecular Haematology and Consultant Haematologist at Kings College London and is also Clinical Director of the Red Cell Centre at King’s College Hospital. She and her research team discovered two of the three major genetic controls of foetal haemoglobin (HbF), which is one of the major factors influencing the severity of SCD. Patients with high levels of HbF have a milder disease with fewer complications. This discovery contributed to the increased use of a chemotherapy drug called hydroxyurea that increases HbF levels, which can lead to improved quality of life and fewer hospitalisations for patients. The discovery has also regenerated interest in many pharmaceutical companies in developing new agents based on the variants of the genes controlling HbF for treatment of SCD.
King’s is pioneering an initiative called the sickle cell gene bank, the first of its kind in the UK. It is a collection of DNA samples from patients with sickle cell disease that the team are using to study the genetic factors of the disease and to better understand why it is so variable. The team at King’s is currently the only group in the UK doing basic scientific research in the field of SCD, although other groups are doing important clinical research.
Donations have provided the team with specialist equipment to carry out this valuable research, including a freezer and storage system for the samples and a NanoDrop instrument to ensure accurate measurements.
The King’s team is aiming to find ways to predict the severity of the disease in an individual, which could lead to starting more targeted treatment before symptoms occur. The aim of these new treatments would be to reduce the pain and prolong the life expectancy of sickle cell sufferers.
King’s researchers are also looking into the effects of weather and air quality on the complications of sickle cell disease, and are trialling new drugs to treat the condition in conjunction with pharmaceutical companies.
On another front, King’s is also looking to improve non-invasive methods of prenatal diagnosis and is the only centre in the UK undertaking this research. Donations have funded PhD research student Claire Shooter to support the team in this ground-breaking research.
The current method of prenatal diagnosis involves taking a sample of a piece of foetal tissue and carries a 1% risk of miscarriage. The approach that King’s is pioneering would take the much safer approach of testing DNA taken from a sample of a mother’s blood. King’s researchers hope that reducing the risk will encourage more women to have prenatal diagnosis.
With your help, we can continue to support ground-breaking research that is changing the way we diagnose and treat disease. Please make a donation to King’s College Hospital today.