The life expectancy of men born with sickle cell anaemia is until their late 40s and that of women until their mid-50s. This is for those who make it to adulthood.
Sickle cell anaemia is part of a group of inherited disorders called sickle cell disease. It changes the shape of red blood cells, which are responsible for carrying oxygen throughout the body.
Typically, red blood cells are round and flexible, allowing them to move smoothly through blood vessels. In sickle cell anaemia, however, some red blood cells take on a crescent or sickle shape, becoming stiff and sticky. This can slow down or block blood flow.
Current treatment focuses on pain management and preventing complications, though new therapies may offer a potential cure. The sickle shape of these red blood cells, which resembles the tool used to cut wheat, is the source of the disease's name.
Sickle cell disease (SCD) can lead to a variety of symptoms, often appearing within the first few months of life. However, early treatment can help many children experience minimal or no symptoms.
Symptoms Found in Sickle Cell Patients
Painful Crises: Pain episodes, known as sickle cell crises, are common and often intense, resulting from blockages in blood vessels. This pain may last for days or even weeks and typically occurs in areas like the limbs or back. The frequency of these painful episodes varies widely; some individuals may experience them weekly, while others might have fewer than one annually. Common triggers include cold or windy weather, dehydration, stress, or intense physical activity, although the cause is not always identifiable.
Frequent Infections: People with SCD are more susceptible to infections, especially as young children. These infections can be mild, like a cold, but may also become severe and life-threatening, such as meningitis. Vaccinations and daily antibiotics help reduce this risk.
Anaemia: Nearly all individuals with SCD experience anaemia due to low haemoglobin levels, which affects oxygen transport in the body. This typically has few symptoms, but if worsened by infections like parvovirus (slapped cheek syndrome), it can lead to a sudden drop in red blood cells, causing symptoms like headache, rapid heartbeat, dizziness, and fainting. Treatment may include blood transfusions.
SCD can also lead to a range of other issues, such as:
- Delayed growth in childhood and delayed puberty
- Gallstones, causing abdominal pain and jaundice
- Bone and joint pain
- Priapism, or prolonged, painful erections lasting hours
- Leg ulcers or open sores on the lower legs
- Stroke or transient ischemic attacks (TIAs) from interrupted blood flow to the brain
- Acute chest syndrome, a severe lung issue causing fever, cough, chest pain, and trouble breathing
- Enlarged spleen, which can cause shortness of breath, rapid heartbeat, abdominal pain, swelling, and anaemia
- Vision problems like floaters, blurred or patchy vision, reduced night vision, and sometimes sudden vision loss
- Pulmonary hypertension (high blood pressure in lung arteries)
- Kidney or urinary issues, including blood in the urine and bedwetting.
Complications of Sickle Cell Anaemia
Pain is the most common issue linked to sickle cell disease. Sickled cells can obstruct blood flow by getting stuck in blood vessels, leading to pain. This can result in an acute pain crisis, also known as a sickle cell crisis, vaso-occlusive crisis (VOC), or vaso-occlusive episode (VOE). These episodes of pain vary in intensity, may begin suddenly, and can last for varying durations. Pain crises most frequently impact areas such as the chest, back, legs, and arms. Chronic pain, which persists for over six months, may also occur.
Anaemia: Sickle cell disease leads to the early breakdown of red blood cells, resulting in anemia—a condition where there arent enough healthy red blood cells to carry oxygen throughout the body. Anaemia can cause severe fatigue, jaundice, irritability, dizziness, and lightheadedness.
Acute chest syndrome: Acute chest syndrome is a serious, potentially life-threatening condition. It can damage the lungs, make breathing difficult, and reduce oxygen levels in the body. This complication arises when sickled cells block blood flow to the lungs.
Blood clots: The abnormal shape of sickled cells increases the risk of blood clots. This raises the chances of developing deep vein thrombosis (DVT), which can lead to a pulmonary embolism (PE) if a clot travels to the lungs.
Stroke: When sickled cells obstruct blood flow to the brain, the oxygen supply is reduced, potentially leading to a stroke. Around 10% of individuals with sickle cell disease experience a clinical stroke, with sickle cell anaemia patients being at higher risk.
Vision problems: Sickled cells can block blood vessels in the eyes, particularly in the retina. This blockage may go unnoticed until sudden vision loss occurs, which can cause permanent blindness.
Priapism: Blocked blood flow in the penis due to sickled cells can lead to a painful, persistent erection (priapism). This condition, aside from causing pain, can lead to permanent damage and erectile dysfunction. If priapism lasts over four hours, it is a medical emergency.
Organ damage and failure: Individuals with sickle cell disease may experience complications in the heart, lungs, kidneys, and other organs due to inadequate blood and oxygen supply. Over time, this can lead to multi-organ failure.
Preventive Measures For Intending Parents
Sickle cell disease is a genetic condition and can't be prevented, but if you're pregnant, consider speaking with a healthcare provider about genetic testing or counselling. For those living with sickle cell disease, effective management is key.
- Take your child to regular check-ups with their healthcare provider.
- Ensure your child receives all recommended vaccines.
- Encourage regular exercise and a heart-healthy diet.
- During pain crises, help your child stay hydrated and provide nonsteroidal anti-inflammatory drugs (NSAIDs).
- If the pain is unmanageable at home, seek hospital care for stronger medication.
Sickle cell disease can reduce life expectancy, but new treatments are enhancing both lifespan and quality of life. With optimal care, people with sickle cell disease can live beyond their 50s. Although there is a potential cure through stem cell transplants, these are not widely available and carry significant risks. Early diagnosis and treatment, however, can minimize symptoms and lower the risk of complications, allowing for a full and active life with continued care.