Diagnosis of sickle cell disease

After your baby is born, they’ll undergo several screenings to make sure they’re healthy. One of those screenings before they leave the hospital will be for sickle cell disease.

If the screening detects your child has abnormal genes causing red blood cells to have a sickle or C shape instead of being round, we’re here to help devise an individualized treatment plan. We’ll work with you and your child to find the best way to manage their pain, prevent infections and organ damage, and screen for the risk of stroke.

Signs and symptoms

Many blood disorders are hereditary, meaning a parent can pass them on. If doctors know about an inherited blood condition in your family, they run tests during pregnancy or soon after birth.

Here are some signs of sickle cell disease you can watch for in your child:

• Acute chest syndrome: Sickle cells in your child’s chest may cause pneumonia with fevers, cough and difficulty breathing
• Anemia: The most common feature of sickle cell disease, anemia causes your child to have tiredness, headache, dizziness, shortness of breath, pale skin or chest pain.
• Aplastic anemia: A severe type of anemia caused when an infection temporarily stops your child’s body from making new blood cells. This leads to low levels of blood and extreme fatigue.
• Delayed growth and puberty: Children with anemia caused by sickle cell disease tend to grow more slowly than others their age. They also are more likely to reach puberty later.
• Enlarged spleen: Your child’s spleen becomes enlarged and possibly painful to touch. Most children with sickle cell disease don’t have a working spleen.
• Eye problems: Without enough blood and oxygen to the retina, eye damage can occur and lead to vision impairment and possible blindness. If your child is older than 10, they should be seen annually by an ophthalmologist.
• Fever: One of the first symptoms of an infection, a fever of 101 degrees Fahrenheit (38.3 degrees Celsius) or higher requires immediate attention from a physician. Delaying treatment by even a few hours is dangerous for your child.
• Gallstones: Gallstones may cause your child to have pain in the upper right side of the stomach, nausea, vomiting, or yellowing of the skin or eyes.
• Hand-foot syndrome: Infants with sickle cell disease often have swollen hands or feet.
• Infections: Infections in the bloodstream, lungs or bone are some of the most serious symptoms.
• Pain: Most often pain occurs in the arms, legs, chest, back and abdomen. It can be triggered by an infection, a rapid change in temperature, stress or lack of sleep.
• Priapism: A condition in boys when sickle cells cause a prolonged erection.
• Stroke: Strokes are the most severe complication of sickle cell disease. If you think your child is having a stroke, immediately call 911 so they can be taken to the emergency room. Some of the symptoms that your child might be having a stroke are:
  • Unable to move their hand, arm or leg
  • Limp without pain
  • Severe headache
  • Dizziness
  • Drooling, slurred words or a twisted, hanging mouth
  • Unable to wake up
• Tonsils: Children with sickle cell disease commonly have enlarged tonsils, which can lead to obstructive sleep apnea. Your child may need a tonsillectomy.