Sickle cell disease is a genetic red blood cell disorder that affects many individuals in many countries including Anguilla. June 19th was World Sickle Cell Day. The day is used in many countries to raise awareness of sickle cell disorder. Sickle cell disease varies between individuals from mild to serious. Most people with it lead happy and normal lives once they are properly managed.
What is sickle cell disease?
Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. That is, it is a disorder that gets passed down from parents to children. The most serious type is called sickle cell anaemia.
People with sickle cell disease produce unusually shaped red blood cells that can cause problems because they do not live as long as healthy blood cells – and can block blood vessels.
Sickle cell disease is particularly common in people with an African or Caribbean family background.
What causes sickle cell disease?
Sickle cell disease is an inherited condition. Genes are passed from parents to children to cause it. This affects haemoglobin in the red blood cells. Sickle cell anaemia, which is severe, happens if you inherit two copies of the sickle cell gene — one from each parent. If both parents have the gene, there is a 1 in 4 chance of each child they have being born with sickle cell disease. Sickle cell trait happens if you have one copy plus one normal gene. That means you are probably healthy, but you could pass the trait to your children. Getting a sickle cell gene and a different abnormal gene can cause mild to severe disease.
Who gets sickle cell disease?
Individuals of Caribbean and African descent are at the highest risk of getting sickle cell disease. You may also be at risk if your ethnicity is Hispanic, Mediterranean, Middle Eastern, Asian, or Indian.
What are some signs and symptoms of sickle cell disease?
People born with sickle cell disease tend to have problems from early childhood, although some children have few symptoms and lead normal lives most of the time. Periodic episodes of pain, called pain crises, are the major and most frequent sickle cell symptoms. Affected individuals may also have anaemia which leaves them very tired. Other symptoms are swollen hands and feet, dark urine, yellow eyes, pale skin or nail beds, and a swollen belly. Stroke symptoms like facial weakness or slurred speech also occur. Individuals are also prone to have frequent infections.
Screening and testing for sickle cell disease
There are several tests available for detecting this disease. All pregnant women in Anguilla are screened for sickle cell disease during pregnancy. Testing can be done at all ages to detect this disorder, or to see if you are a carrier of the gene that causes it.
Treatments for sickle cell disease
People with sickle cell disease need treatment throughout their lives. This is usually delivered by a team of different health professionals. Individuals with this long term chronic disorder are encouraged to look after their own health – using self care measures such as by avoiding triggers and managing pain.
A number of treatments for sickle cell disease are available. These include the following:
• drinking plenty of fluids and staying warm to prevent painful episodes
• painkillers are often required, such as paracetamol or ibuprofen (Sometimes treatment with stronger painkillers in hospital may be necessary.)
• daily antibiotics – and having regular vaccinations to reduce your chances of getting an infection
• various medications like hydroxycarbamide (hydroxyurea) are used to reduce symptoms
• regular blood transfusions if symptoms continue or get worse – or there are signs of damage caused by sickle cell disease
• an emergency blood transfusion if severe anaemia develops
The only cure for sickle cell disease is a stem cell or bone marrow transplant, but they are not done very often because of the serious risks involved.
Complications of Sickle Cell Disease
In some individuals with sickle cell disease, especially those who are not properly managed, the disease can lead to strokes, high blood pressure in your lungs, organ damage, leg ulcers, blindness, and gallstones. Sickle cell can also cause acute chest syndrome – a potentially deadly condition that involves chest pain, fever, cough, and a hard time breathing. Men with sickle cell may get long-lasting, painful erections (priapism), or become impotent. Women can have complicated pregnancies.
Conclusion
Sickle cell disease is a lifelong condition that can be managed successfully in many individuals. With a healthy lifestyle, and new medications, individuals with this inherited condition can live longer and have a better quality of life. With good control of the disease, some people go years without symptoms. It is important for individuals with sickle cell disorder to have regular medical checkups and to follow treatment and medication prescribed by their doctor.
Ask Your Dr is a health education column and is not a substitute for medical advice from your physician. The reader should consult his or her physician for specific information concerning specific medical conditions. While all reasonable efforts have been made to ensure that all information presented is accurate, as research and development in the medical field are ongoing, it is possible that new findings may supersede some data presented.
Dr Brett Hodge MB BS DGO MRCOG is an obstetrician/Gynaecologist and Family Doctor with over thirty-eight years in clinical practice. Dr Brett Hodge has a medical practice in The Johnson Building in The Valley (Tel: 264 497 5828).
