All About Sickle Cell Disease

Monday, October 7, 2013

Sickle cell disease affects approximately 90,000 Americans, according to the Centers for Disease Control and Prevention (CDC), and Children’s National Health System serves the second largest sickle cell population here in the Washington, DC, metro area.

Sickle cell disease is an inherited blood disorder that affects red blood cells. These red blood cells, instead of being the normal circular shape, under stress they become crescent shape or sickle shaped,” Children’s National sickle cell specialist Allistair Abraham, MD, said.

Dr. Abraham explained that this stress could range from dehydration, decreased oxygen, or extreme temperature changes. And over time, the sickle shape becomes irreversible, causing a multitude of complications.

“This time of year, we get an influx of patients because of weather changes and respiratory illnesses, influenza, respiratory syncytial virus, and the common cold,” Dr. Abraham said. According to the CDC, sickle cell disease can be diagnosed with a simple blood test during routine newborn screening tests in hospitals. There is not one symptom that describes sickle cell disease, besides the sickle shaped cells, however children with sickle cell disease may experience:
  • Excruciating bone pain
  • Anemia
  • Jaundice
  • Acute chest syndrome
  • Stroke
Sickle cell disease treatment:

The treatment for sickle cell disease depends on what a child’s doctor orders, but some treatments include:
  • Pain medication
  • Hydroxyurea - a medication recently found to help reduce the frequency of pain crises and acute chest syndrome; it may also help decrease the need for frequent blood transfusions
  • Blood transfusions
  • Penicillin
  • Early vaccinations to reduce complications
At Children’s National, we also have a Sickle Cell Transplant Program, where we have been able to  cure sickle cell disease through bone marrow transplantation (BMT).

The first transplant for sickle cell disease happened at Children’s National in 1996 and our specialists have now done about 30 transplants. They started off helping the most severe patients, but now the push is to perform the transplant before the child has a stroke, which can happen in about 10 percent of sickle cell patients.

A child interested in BMT needs to be matched with the right donor within the family, usually brother or sister, but please note that only about 20-30 percent of patients find this right match. Before the BMT procedure, a child with sickle cell disease receives a high dose of chemotherapy to destroy the patient’s bone marrow to make room for new bone marrow to grow. Then, the patient receives an infusion of healthy bone marrow containing blood-forming stem cells. The new bone marrow produces healthy red blood cells and resolves the symptoms of sickle cell disease.

The multidisciplinary team of physicians, nurses, pharmacists, social workers, chaplains, and physical therapists help guide families through the process of BMT. The entire BMT procedure requires hospitalization for about 5-6 weeks. Because the procedure is associated with very serious risks, parents can expect to answer a series of questions before enrolling their child to undergo BMT to cure him or her of sickle cell disease.

“If the transplant goes well, they will only be left with injury from the sickle cell disease itself (stroke, hip replacement) otherwise can lead a normal life – go to college play sports, etc. There are complications of course that can happen, but they’re becoming much less since we’ve been doing the procedure,” Dr. Abraham said.

Parents with questions about sickle cell should ask their child’s pediatrician or check out Children’s National’s Sickle Cell Disease Program.


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