How does sickle cell disease affect the body?

Signs and symptoms

SCD as a condition is in constant movement, and thus symptoms vary in severity from one person to another and typically change over time too. It is difficult, even for medical professionals, to gauge when symptoms will start and how severe they are likely to be.

Common symptoms include:

• Pain: One of the primary results of a lack of sufficient blood flow and oxygen in the body is pain. Pain typically presents as ‘periodic episodes’ (known as sickle cell crisis) and is experienced as a result of restricted flow in the smaller blood vessels, particularly in the abdomen, chest, bones and joints. Pain (crisis) typically varies in intensity and can last anywhere between a few hours to several days at a time. Some sufferers will have a dozen or more crises in an annual period, and others will experience just a handful of episodes. Hospitalisation may be necessary in the case of a severe crisis episode. Chronic pain can lead to joint and bone damage, as well as ulcers (tissue damage). Pain in both the hands and feet is also known as hand-foot syndrome.
• Painful swelling: With reduced blood flow, the hands and feet in particular will be adversely affected. The result will be swelling in these areas which can be quite painful.
• Anaemia (chronic): The abnormal shape of sickle cells means that they are easily broken apart in the body. When this happens, they effectively ‘die’. This reduces the number of RBCs in the body even further, meaning that even less oxygen can be carried through the blood. Normally, RBCs are active for approximately 120 days before naturally being replaced in the body. Sickle cells die off within 10 to 20 days. A shortage of RBCs in the body is known as ‘anaemia’. A lack of oxygen throughout the body will result in symptoms of fatigue, low energy and lethargy. Babies suffering from the condition will also become quite fussy and irritable when tired.
• Infections: Organs that typically help fend off infections in the body, such as the spleen will incur a degree of damage over time. This makes a sufferer more prone to frequent infections such as pneumonia. Preventative measures (vaccinations and penicillin antibiotics) are therefore encouraged by medical professionals as a way to make a person (especially infants and young children) less vulnerable.
• Problems with vision: Damage to the retina occurs due to the lack of oxygen reaching the tiny blood vessels that support eye function. Normal visual image processes are impaired, causing problems with vision.
• Delayed growth: Oxygen carries essential nutrients to various areas of the body in order to maintain a healthy growth rate. When sickle cells become stuck, restricting blood flow, delayed growth occurs. This is of particular concern during the early stages of life – infancy and childhood – and delays the natural growth process of puberty (sexual maturation) during a person’s teenage years.

What other signs should you look out for?

Typically, signs will likely be picked up fairly quickly by a medical doctor in a new-born baby (between 4 and 6 months), but parents can also be on the look-out for other signs causing a little one great distress. In some instances, you may need to seek emergency care if any of the below are noted in a baby or young child:

• Episodes of severe pain which cannot be explained. Typical areas include the chest, abdomen, joints or bones.
• Swelling in the abdominal area, hands and feet. These areas will also be quite tender to the touch.
• Frequent infections with fever
• Yellowing of the skin and whites of the eyes (jaundice) or pale skin and nail beds
• Bed-wetting (associated with impaired kidney function)
• Shortness of breath (particularly when active)
• Signs of stroke (weakness in the facial area, arms, and legs, one-sided paralysis, inability to walk or talk, sudden problems with vision, confusion, unexplained numbness and headache). This is life-threatening and requires immediate medical assistance.
• Pulmonary hypertension (high blood pressure in the lungs) is a high risk of severe anaemia and can be life-threatening.