Sickle cell disease explained: symptoms, crises and care

What sickle cell disease is

Red blood cells normally look like soft, round discs that bend easily to squeeze through tiny blood vessels. In sickle cell disease, a change in the gene that makes haemoglobin — the substance that carries oxygen — causes some cells to become stiff and curved, like a crescent or sickle. These misshapen cells do not flow smoothly; they can clump together and block small blood vessels, and they break down faster than normal, causing anaemia. To have the condition, a person inherits an affected gene from both parents. Those who inherit just one copy have sickle cell trait, are usually healthy, and can pass the gene on.

Symptoms and crises

The most well-known feature is a painful episode, often called a sickle cell crisis, which happens when sickled cells block blood flow and starve part of the body of oxygen. Pain can strike the bones, chest, tummy or joints and ranges from mild to severe. Because the cells break down quickly, people are often anaemic, leading to tiredness and breathlessness. Other problems include a higher risk of serious infections, delayed growth in children, and complications affecting the lungs, spleen, eyes, kidneys and, rarely, the brain. A crisis can be triggered by cold, dehydration, infection, stress or over-exertion, though sometimes there is no obvious cause.

Diagnosis and monitoring

In the UK, sickle cell disease is usually detected early through newborn blood spot screening, and blood tests confirm the diagnosis. Pregnant women and their partners may also be offered screening. People with the condition are cared for by specialist teams and reviewed regularly to monitor their blood counts, check organ health, and watch for complications. Children may have special scans to assess the risk of stroke. Regular review also allows vaccinations and preventive medicines to be kept up to date. This ongoing monitoring is central to modern care, because catching and preventing complications early makes a real difference to long-term health.

Everyday management

Much of living well with sickle cell disease is about preventing crises. That means staying warm, drinking plenty of fluids, avoiding sudden temperature changes and extreme exertion, and treating infections quickly. To reduce infection risk, people are offered extra vaccinations and often take preventive antibiotics, especially in childhood. A medicine called hydroxycarbamide is commonly used to reduce the frequency of painful crises and other complications. Mild pain may be managed at home with simple pain relief and warmth, but severe pain, fever or breathing difficulty needs urgent hospital care. Living with a lifelong, unpredictable condition can also affect mood, so emotional support is an important part of care.

Complications and newer treatments

Because blocked vessels and rapid cell breakdown affect the whole body, complications can include stroke, lung problems, leg ulcers, gallstones and damage to organs over time. Regular specialist care aims to prevent or catch these early. Blood transfusions are used for some complications, and a stem cell (bone marrow) transplant can potentially cure the condition in selected people, though it carries significant risks. Research into new therapies, including approaches that alter the underlying gene fault, is advancing and offers real hope for the future. With comprehensive care, most people with sickle cell disease in the UK now live into adulthood and lead full lives, supported by their specialist team.