Sickle cell disease demands early diagnosis, interventions
Parkland physician urges more awareness, education
Oluchi Da-silva Akwada is quick to describe the pain she often experiences.
“It feels like needles going into an open sore,” she said. “It is an awful pain; I wouldn’t wish this on my worst enemy.”
But it’s something the Dallas resident has experienced throughout most of her life. Now 23 years old, Da-silva Akwada was diagnosed with sickle cell disease when she was 6 months old. Although she has experienced numerous health problems because of her disease – from removal of her gallbladder to a stroke – the most constant have been episodes of “pain crisis,” a common symptom of sickle cell disease.
“The pain has been mostly in my tummy, but also in other parts of my body,” Da-silva Akwada said. “I’m on pain medication and antibiotics for infections, so we’re trying to control it.”
September is Sickle Cell Awareness Month and an excellent opportunity to learn more about this disease that health experts say is often misunderstood.
Sickle cell disease is an inherited blood disorder that adversely affects hemoglobin within red blood cells. Sickle cell disease affects as many as 100,000 individuals in the United States. Persons with the disease can suffer from a wide range of symptoms and complications such as pain, anemia, organ damage, strokes, pulmonary hypertension and vision problems. Left untreated, it can severely affect a person’s quality of life and even lead to early death.
“It’s important to know that sickle cell disease is not contagious and it is not something that you can develop during your lifetime,” said Alecia Nero, MD, an expert on non-malignant hematology who treats patients in Parkland’s Hematology Oncology Clinic, and also is an Assistant Professor of Internal Medicine at UT Southwestern Medical Center. “Sickle cell is something you inherit from your parents as it is genetically passed on to children based on the type of hemoglobin carried by each parent. It is something you are born with.”
In order for a person to inherit sickle cell disease, both parents must have at least one abnormal sickle cell gene. If both parents have the sickle cell gene, their child has a 25 percent chance of being born with the disease. People with sickle cell trait, which means they are a carrier of only one sickle cell gene with the other gene being normal, will not develop the disease.
While sickle cell is most commonly known as a disease that affects African-Americans – about 1 in 400 African-Americans are born with the disease – it also affects persons of other backgrounds, including those from Central and South America as well as from Mediterranean and South Asian areas.
Hemoglobin, found in red blood cells, is the protein molecule that carries oxygen from the lungs throughout the body.
Normal red blood cells have a generally circular shape, like donuts, and are pliable. Sickled red blood cells are stiffer and are crescent-shaped, which makes it more difficult for them to move throughout the body to deliver oxygen. They also can sometimes clog blood vessels. As a result, blood and the oxygen it delivers can’t get to certain areas of the body.
Many patients with sickle cell disease have anemia as the red blood cells break down much faster than normal blood cells. The anemia leads to fatigue and tiring easily which also affects daily activities.
“It is important for people to know their status,” Dr. Nero said. “Then you can calculate the risk to any future children. For children, early detection is so important that all 50 states now screen infants for sickle cell.
“The earlier sickle cell disease is detected, the sooner you can start interventions such as penicillin and parent/guardian teaching that can be life-saving in these very early years. Infection was the leading cause of death from sickle cell for many years,” Dr. Nero said. “But with early screening and training parents about symptoms to look for, there has been a dramatic drop in the deaths of these babies.”
When Da-silva Akwada, whose family calls her Lulu, was diagnosed with sickle cell disease, her mother was already well aware of the impact it would have on her daughter. Yinka Da-silva Akwada said she’d had a son who also was born with the disease.
“He had so many complications, but most were different from what Lulu has had,” her mother said. Her son died of complications from sickle cell disease at the age of 32 earlier this year.
Da-silva Akwada said that in addition to other treatments, she continues to visit Dr. Nero every three months in the Parkland Hematology Clinic, as well as specialists in other Parkland clinics to help her manage the disease.
Experts say persons with sickle cell disease should drink plenty of water to avoid dehydration, avoid temperature extremes, exercise regularly but avoid over-exertion, and have their doctor review their over-the-counter medicines. A healthy diet and folic acid supplement are also recommended. Patients with sickle cell anemia should be considered for hydroxyurea, the only available medication that treats sickle cell disease. Studies have shown this therapy to decrease disease complications and increase life expectancy in patients with sickle cell anemia.
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