What is sickle cell disease?
Sickle cell disease is a group of inherited blood disorders that causes red blood cells to become stiff and sticky. While normal red blood cells are shaped like the letter O and are smooth and flexible, sickle cells are often shaped like the letter C and tend to cluster together. These clusters can create blockages in the blood vessels, leading to pain and organ damage.
Sickle cell disease primarily affects people of African descent and Hispanics of Caribbean ancestry. It also occurs in those of Indian and Middle-Eastern descent.
Symptoms
Sickle cell disease is a condition a baby is born with. Most babies don’t have any symptoms for about six months. Because all babies are tested for sickle cell disease at birth, you will find out if your baby has sickle disease before you notice any symptoms.
The symptoms of sickle cell disease can vary greatly depending on the child’s specific type of disease. Symptoms and complications may include:
- severe anemia
- chronic pain
- frequent infections
- heart problems
- stroke
- jaundice, a yellowish tone to the skin or whites of the eyes
- eye problems
- leg ulcers
Diagnosis
All newborns in the U.S. are tested shortly after birth to determine if they have sickle cell disease or are a carrier of sickle cell trait. If your child is diagnosed with sickle cell disease, genetic testing can help identify your child’s unique genetic variations of the disease.
Treatment
The only cure for sickle cell disease is stem cell transplant, which involves the transplantation of normal blood stem cells from another person (donor) to your child.
Other treatments focus on relieving symptoms or preventing complications. They may include medications or blood transfusions.
Learn more about Pediatric Hematology, Oncology and Stem Cell Transplant services at Boston Children’s Health Physicians.
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