Community awareness needed for painful sickle cell disease

Is your child susceptible to infections or suffering from pain? Does your child tire easily? Does he or she have learning problems? While it’s not likely, your child may have sickle cell disease (SCD).

SCD is the most common genetic condition in the world and the most common condition identified by newborn screening in the United States. There are roughly 40 to 50 children born with SCD in Miami every year.

Sickle cell disease is hereditary, which means that both parents have to be at least carriers of an abnormal hemoglobin (the protein that carries oxygen to the body), and at least one of them has to be a SCD carrier. The most common type of SCD is sickle cell anemia, which occurs when a person makes only abnormal hemoglobin S or sickle hemoglobin. Although SCD can affect anyone, African Americans, people with African ancestry, Hispanics and people from India are most commonly affected.

SCD gained its name as a result of patients’ red blood cells deforming into the shape of a sickle or banana, meaning the cell can break easily. Sickle cells will block blood vessels, causing tissue injury and pain. Pain is the most common symptom associated with SCD. Pain can be acute, sporadic or chronic. Patients have variable pain frequency and severity.

Children with SCD are at risk of infection, which is why penicillin is given to young children up to age 5. Children may be chronically tired depending on the degree of anemia; therefore, it is important that they rest and eat appropriately in order to be as healthy as possible. It is well known that dehydration may provoke sickling — when red cells become deformed — so a child weighing 30 pounds should drink five to eight 8-ounce glasses every day.

Exercise is good, but every SCD patient has different tolerance. Non-contact sports are advised because excessive exercise can lead to dehydration, which is not recommended for SCD patients.

Changes in weather or temperature may trigger unexpected pain. Therefore, it is important that parents are aware of the weather conditions and dress SCD children appropriately.

Another issue is learning. Some children with SCD, especially with sickle cell anemia, have learning problems because chronic anemia and lack of blood flow to the brain may affect memory, learning speed and information processing. However, many children and adults with SCD are able to study, work and carry on normal lives and be successful.

One critical piece of advice for SCD patients is to avoid emotional stress and anxiety. While this is good advice for everyone, it is especially important for people who have SCD. The stress hormone epinephrine helps the attachment of sickle cells to blood vessels, impeding adequate blood flow. So, stress may bring on pain. Relaxation techniques, breathing exercises and other methods of relaxation such as music, prayer and meditation are recommended.

There is treatment for SCD. Penicillin is given to young children to prevent infection by the bacteria pneumococcus, which can lead to pneumonia. There is medication that is safe and effective to decrease pain and other sickle cell-related complications. While prescribed medication requires medical monitoring, many children are candidates to receive it.

SCD can be cured by a bone marrow transplant, which involves receiving bone marrow from a donor — usually a compatible sibling.

Within the last year, research has begun to treat SCD with gene therapy. Gene therapy introduces a normal gene or a hemoglobin that does not allow sickling into the patient’s blood stem cells. This therapy is not yet widely available, but it may lead to a cure in the future, bringing hope to those affected by SCD.

September is Sickle Cell Awareness Month. It is important that the community knows about SCD and advocates for funds that are desperately needed for research, clinical care and to help families in need. With combined awareness and help, we can make SCD a disease of the past.

Ofelia Alvarez, M.D., is a pediatric hematologist/oncologist and medical director of the Pediatric Sickle Cell Program at UHealth – the University of Miami Health System. For more information, visit UHealthSystem.com/patients/pediatrics.

This story was originally published September 20, 2016 at 9:39 AM with the headline "Community awareness needed for painful sickle cell disease."