Sickle Cell Disease : 5 Common Signs and When to See a Doctor

Sickle Cell Disease : 5 Common Signs and When to See a Doctor

Sickle cell disease (SCD) is a group of inherited red blood cell disorders.

Whilst it is a lifelong condition, advances in monitoring and treatment have significantly improved the quality of life and life expectancy for those affected.

What is Sickle Cell Disease?

SCD is a haemoglobinopathy, a condition where a mutation in the HBB gene on chromosome 11 causes red blood cells to become rigid and C-shaped (like a “sickle”) instead of round and flexible.

These sickle-shaped cells do two things:

• Haemolysis: They break down prematurely, leading to chronic anemia.

• Vaso-occlusion: They get stuck in small blood vessels, blocking blood flow and oxygen to organs.

Epidemiology and Ethnic Groups Affected

SCD is most prevalent in populations from regions where malaria was historically common, as the sickle cell trait offers a natural evolutionary advantage against malaria.

• African Ancestry: Approximately 1 in 13 Black or African American babies is born with the sickle cell trait.

• Global Presence: It also affects people of Hispanic, South Asian, Middle Eastern, and Mediterranean descent.

• UK Context: There are approximately 15,000 people living with SCD in the UK, making it the fastest-growing genetic condition in the country.

Inheritance: How SCD is Passed Down

SCD follows an autosomal recessive inheritance pattern.

• • If a child inherits one sickle gene, they have the Sickle Cell Trait (SCT). They are “carriers” and usually do not show symptoms, but they can pass the gene to their children.

  • If both parents have the trait, there is a 25% chance with each pregnancy that the child will have SCD.

5 Common Signs of Sickle Cell Disease

Symptoms usually begin around 6 to 9 months of age and vary in severity among individuals.

1. Pain Crises (Vaso-occlusive Crises): The hallmark of SCD. These are sudden episodes of severe pain that can occur anywhere in the body, most commonly in the back, chest, arms, and legs.

2. Anaemia: Because sickle cells die much faster than normal cells (roughly 10–20 days vs. 120 days), the body cannot replace them quickly enough. This leads to chronic fatigue, weakness, and paleness.

3. Dactylitis (Hand-Foot Syndrome): Often the first sign in infants, this involves painful swelling of the hands and feet caused by blocked blood flow.

4. Frequent Infections: Sickle cells can damage the spleen, which helps fight infection. This makes individuals—especially children—more vulnerable to serious bacterial infections.

5. Jaundice: The rapid breakdown of red blood cells releases bilirubin, which can cause a yellowing of the skin and the whites of the eyes.

Monitoring and Management

Managing SCD requires a proactive, multidisciplinary approach to prevent complications.

• Regular Screenings: Annual reviews typically include blood tests (CBC), urine tests to check kidney function, and retinal exams to check for eye damage.

• Stroke Prevention: Children between ages 2 and 16 should receive a Transcranial Doppler (TCD) ultrasound annually to measure blood flow in the brain and assess stroke risk.

• Vaccinations: Keeping up to date with immunizations and taking daily prophylactic penicillin is vital to prevent life-threatening infections.

Treatment Options

While a bone marrow or stem cell transplant and newer gene therapies offer potential cures, most treatments focus on managing symptoms:

• Medications: Hydroxyurea is a common daily medicine that helps the body produce more fetal hemoglobin, reducing the frequency of pain crises. Newer drugs like Crizanlizumab are also now available.

• Pain Relief: Mild pain may be managed with hydration and over-the-counter anti-inflammatories, while severe crises often require hospital-grade opioids.

• Blood Transfusions: Used to treat severe anemia or to prevent stroke and acute chest syndrome.

When to See a Doctor

Seek emergency medical care immediately if you or someone with SCD experiences:

• A fever over 38.5°C (101.3°F).

• Chest pain, shortness of breath, or a severe cough.

• Sudden weakness, numbness (especially on one side), or difficulty speaking.

• A painful erection that lasts more than 4 hours (priapism).

• Sudden swelling in the abdomen or severe lethargy.

References

UK Sources

• NHS England: Sickle Cell Disease – Overview and Treatment

• NICE (National Institute for Health and Care Excellence): Sickle Cell Disease Management Guidelines

US Sources

• Centers for Disease Control and Prevention (CDC): What is Sickle Cell Disease?

• Mayo Clinic: Sickle Cell Anemia – Symptoms and Causes