By Elio Bonelli

It’s wintertime and many conditions can be exacerbated by the cold and chilling drop in temperatures. One of those conditions is Sickle Cell Disease and thecity.ie had a chat with the founder and CEO of Sickle Cell and Thalassaemia Ireland (SCTI) Lora Ruth Wogu to find out more about the disease.

SCTI is managed by families impacted by Sickle Cell and Thalassaemia, along with dedicated volunteers. Their mission is to promote awareness and offer support to individuals facing Sickle Cell and Thalassaemia challenges, as well as their loved ones, within Ireland. 

What is Sickle Cell Disease? 

“Sickle Cell Disease is a genetic condition that affects red blood cells. It is a condition caused by a mutation in the HBB gene, which provides instructions for making hemoglobin—a protein responsible for carrying oxygen in red blood cells. The mutated gene leads to the production of abnormal hemoglobin known as hemoglobin S (HbS). 

The presence of such a gene leads to the red blood cells becoming solid and rigid which leads to clogging. The cells end up resembling a C shape or sickle, which is where the name sickle cell comes from.” 

What are the symptoms of Sickle Cell Disease? 

“The main symptoms of the condition are pain crises which are periods of intense pain, weakness and fatigue, mental delays, strokes and infections. The weakness and fatigue are caused by anemia which is when the number of red blood cells or levels of hemoglobin within them are much lower than usual. We would also see weakness of the elbow and joints due to the small areas in which the blood vessels are in.” 

Does Sickle Cell Disease affect certain populations? 

“Anyone can get it, not just certain demographics. The condition is more predominant amongst patients with African or Carribean backgrounds, but the disease is not exclusive to just that group.” 

How is Sickle Cell Disease inherited? 

“The disease can only be inherited if both parents have the genetic mutation. If only one parent has the gene, then the child will not get the disease.” 

How many people are affected by Sickle Cell Disease in Ireland? 

“Around 800 people in Ireland are affected by the condition and the vast majority of the patients are based in Dublin.” 

What are the mortality rates of this condition? 

“The mortality rates of Sickle Cell in high-income countries are significantly lower than those in lower-income countries. 

For example, the rate is usually five years in Africa but in the likes of Ireland or the UK, the rate would be 45 – 55 years. I have seen people survive for nearly sixty years with the condition.” 

How is Sickle Cell Disease treated? 

“It is usually treated firstly with folic acid and penicillin, but we mostly treat the disease with blood transfusions and blood exchange. There is a big difference between blood transfusions and blood exchange.  

Blood transfusions involves giving a patient blood to essentially “top up” the patient with good blood cells.  

A blood exchange involves removing some of the patients’ blood and replacing it with a substitute.  

Patients are also treated with Hydroxyurea which is a medication that helps to increase the production of fetal hemoglobin, which can reduce the frequency of pain crises and other complications. It is classified as a chemotherapy drug but is dosed differently to what you would see in a cancer patient.” 

Are there any issues that Sickle Cell Ireland have faced? 

“Yes. We have faced issues with trying to get supplies of blood. There is currently a shortage of blood for our patients and there is not enough pace in securing the supplies that are badly needed.  

There are some children with SCD in Crumlin Children’s hospital who have to stay there beyond the age limit of sixteen for treatment. Otherwise, there are not many treatment options available after they leave the hospital.” 

What about the future? 

“We hope to have our own designated centre as we have had none since we started in 2015. We would also love to see the introduction of gene therapy which was very recently approved in the UK. Gene therapy involves replacing a faulty HBB gene with a normal, functioning one.  

The more treatment options that can become available means that there can be less of a strain on supplies of other treatments like blood transfusions.”