Sickle Cell and Black Britain

UNDERSTANDING THE CONDITION 100 YEARS ON

By Kemi Johnson

Friday, October 8, 2010.

It is 100 years since ‘peculiar elongated cells’ were first reported by Dr James Herrick. His 1900 publication was the first ever record sickle cell disease, making 2010 a milestone year for sickle cell campaigners.

Dr Phillip Nortey, Chief Executive of the Sickle Cell Society, summed up the journey that campaigners have witnessed: “The centenary of Dr Herrick’s discovery marks an important occasion for our Society. Enormous progress has been made in the last 100 years to improve our understanding of sickle cell disease. However, while life expectancy and quality of life has improved significantly, there is still a huge amount to be done to deal with the lack of awareness and stigma surrounding the condition. There is also urgent need for funding into research to find a cure.”

Today sickle cell is the most common serious genetic condition in England, with an estimated 13,500 people living with the disease and a further 240,000 genetic carriers of the disorder. This makes it more common than cystic fibrosis!

A recent study on the prevalence of the disease has shown just how mainstream it has become, with almost 1.5% of all newborn babies in England found to be carriers of the sickle cell gene. This means they are healthy, but able to pass on the genes and – if their partner is also a carrier – potentially the disease to their own children.

The study also highlighted the wide geographical variation in the frequency of sickle cell disease. As expected, most affected babies are in London and other large urban centres, but sickle cell disease is found in all parts of England. This reflects the fact that Black African and Black Caribbean communities are the most affected.

1 in 8 of all babies recorded as of Black Caribbean ethnic origin is a carrier of the sickle cell gene. Black Caribbean babies make up 10% of all those identified as carriers despite representing only 1% of total number screened

1 in 7 of all babies recorded as of Black African ethnic origin is a carrier of the sickle cell gene. Black African babies make up almost two thirds of all those identified as carriers despite representing only 4% of total number screened.

Understanding what it means to live with sickle cell
There are many different types of sickle cell disease, the most serious form of these being sickle cell anaemia. Sickle cell affects the normal oxygen-carrying capacity of red blood cells – symptoms can include severe anaemia, intense pain, damage to major organs and infections.

Enormous progress has been made in the past 100 years to improve our understanding of the disease. While there is no definitive cure, patients can be supported to manage their pain and monitored to help avoid life threatening complications. As a result people are living longer and healthier lives.

At 77, Hemar Falconer, is the oldest person the Sickle Cell Society knows of living with sickle cell disease in England. She says: “I have lived with sickle cell for many years and have seen huge changes in both care and understanding during this time. However, there is still a huge amount to be done to challenge the lack of awareness among the most at risk communities.”

Awareness is only part of the story. In England we offer the world’s first linked antenatal and newborn screening programme – a model for genetic screening which has attracted interest internationally. The service helps to diagnose more than 350 babies every year and allows parents to understand their own carrier status.

Antenatal screening is designed specifically to ensure that couples expecting a baby are offered an informed choice about their pregnancy. It is also used to improve the quality of life through early diagnosis if a newborn does turn out to have sickle cell. However, despite developments in improving services, in many cases there is still stigma associated with the disease.

Ade Aluko, a 30 year old musician with sickle cell disease says: “There are still too many people who do not understand what sickle cell disease is and how painful it can be for someone living with the condition, as well as the pressure it puts on couples with a sickle cell child.”

Knowing your carrier status is extremely important. If you are a carrier and you have a baby with another person who is also a carrier, there is a 1 in 4 chance in each pregnancy your child could inherit a serious disease. So it’s important that everyone knows their carrier status and understands the risks and the choices open to them.

Screening is offered to everyone in pregnancy, although people can ask for a test at any time in life from their family doctor or by contacting a specialist sickle cell centre.

You can find out more about living with sickle cell and screening at www.sickleandthal.org or http://www.youtube.com/user/haemscreening

Kemi Johnson is with UK’s NHS Sickle Cell and Thalassaemia Screening Programme.