Sickle Cell Disease | Symptoms & Causes

What are the symptoms of sickle cell disease?

The severity of the symptoms of sickle cell disease can vary greatly depending on the specific genetic type and even within those of the same type. Each child may experience symptoms differently, and symptoms can be very difficult to predict. Symptoms and complications of sickle disease may include the following.

Anemia

Anemia is the most common feature of all the sickle cell diseases. Anemia may delay normal growth and development and decrease energy and endurance.

Pain crisis (also called vaso-occlusive crisis)

This occurs when the flow of blood is blocked to an area because the sickle-shaped cells have become stuck in the blood vessel. Pain can occur anywhere but most often occurs in the bones of the arms, legs, chest, and spine. Painful swelling of the small bones of the hands and feet (dactylitis) can occur in infants and toddlers. Priapism results from sickling that occurs in the penis. This results in a painful and unwanted erection. Any interruption in blood flow to the body can result in pain, swelling, dysfunction, and possible death of the surrounding tissue not receiving adequate blood and oxygen.

Acute chest syndrome (ACS)

This occurs when sickle-shaped cells stick together and block the flow of oxygen in the vessels in the lungs. It can be life-threatening and is the leading cause of death in children and adults with sickle cell disease. ACS can be triggered by asthma crisis, infection (viral or bacterial), or pain (particularly in the chest) and can progress rapidly to respiratory failure. It resembles pneumonia and includes fever and breathing symptoms such as cough or difficulty catching breath. ACS often occurs suddenly, when the body is under stress from infection, fever, or dehydration, and multiple episodes can cause permanent lung damage.

Bacterial infection and sepsis

In most children with sickle cell disease, by toddlerhood, the spleen becomes scarred and permanently damaged and no longer has full function. The spleen is important in the body’s defense against serious bacterial infections; therefore, children with sickle cell disease are at risk for life-threatening bacterial infections. Fever (>38.5⁰C or 101.5⁰F) is a symptom that must be evaluated immediately to rule out a life-threatening bacterial infection.

Splenic sequestration (pooling)

Sickle cells can block the exit of blood from the spleen resulting in pooling of sickle-shaped cells in the spleen, causing a sudden worsening of the anemia. The spleen becomes enlarged and painful from the increase in trapped blood volume. It can be life threatening if not treated promptly. A severe episode of sequestration requires surgical removal of the spleen.

Stroke

This is a sudden and severe complication that can occur in children with sickle cell disease. Sickle-shaped cells can block the major blood vessels that supply the brain with oxygen. Interruption in the flow of blood and oxygen to the brain can result in devastating damage to the brain. Symptoms of a stroke can include weakness, particularly on one side of the body; slurred speech; seizure; confusion; dizziness or loss of coordination; or a severe headache. Having had one stroke, a child is much more likely to have more strokes and requires preventative therapy with chronic repeated transfusion for life.

Jaundice

Jaundice is a common sign and symptom of sickle cell disease. Sickle red blood cells are destroyed prematurely in the spleen. The recycling of sickle hemoglobin from these cells produces increased levels of the yellow bilirubin protein that discolors the skin and eyes. Chronic high bilirubin levels can lead to gallstone formation.

Other

Any and all major organs are also affected by sickle cell disease. The liver, heart, kidneys, gallbladder, eyes, bones, and joints can suffer damage from the abnormal function of the sickle cells and their inability to flow through the small blood vessels correctly. Problems may include:

  • leg ulcers
  • bone/joint damage
  • kidney damage and loss of body water in the urine
  • eye and retinal damage

What causes sickle cell disease?

The following are the most common ways a child can develop sickle cell disease:

  • If both parents have sickle cell trait, each of their children will have a 25 percent chance of having sickle cell disease.
  • If one parent has sickle cell disease and the other has sickle cell trait, each of their children will have a 50 percent chance of having sickle cell disease and a 50 percent chance of having sickle cell trait.
  • If one parent has sickle cell disease and the other does not, all of their children will have sickle cell trait, but none of them will have sickle cell disease.