Sickle Cell Disease: ‘A Perfect Storm’

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Jourdan Dunn brings awareness to sickle cell disease. The supermodel’s son Riley was diagnosed with the disease, an inherited, noncontagious blood disorder most common in people of Afro-Carribean or African descent. Jourdan intends to use her status as a famous model to help garner more support for the Sickle Cell Society, which she strongly supports.

 

Sickle cell disease (SCD)—many of us have heard of it. Chances are, many of us also know someone who has it. According to estimates from the Centers for Disease Control and Prevention:

 

•SCD affects 90,000 to 100,000 people in the U.S.

•One in 12 African Americans has SCD.

SCD is most common in people whose family lines come from Africa, South or Central America, the Cari­b­bean islands, Mediterranean countries, India and Saudi Arabia.

What is SCD? Why should we know about it? SCD is genetic; people inherit it from their parents so those who have it are born with it. SCD is a lifelong disease that affects the blood. Regular red blood cells are shaped like a doughnut without a hole in the center. Their shape helps them move easily through blood vessels. Red blood cells have a protein called hemoglobin that carries oxygen throughout the body. In SCD, the body makes sickle-shaped red blood cells that do not move easily through blood vessels. They block blood flow, which causes parts of the body not to get enough oxygen. Without oxygen, body tissue is damaged, which leads to organ damage and possible shutdown.

“The hallmark of this disease is pain,” says Lakshmanan Krishnamurti, MD, professor of pediatrics at the University of Pittsburgh School of Medicine and clinical director of hematology in the Division of Hematology/Oncology at Children’s Hospital of Pittsburgh of UPMC. “Parts of the body aren’t getting enough oxygen, so they’re dying. And this causes pain that can range from mild to severe.”

Because people are born with SCD, all newborns in the U.S. are tested for the disease. Without immediate treatment, many infants used to die from the disease. SCD would destroy their spleens (organs that help the body fight infection).

“The good news is that people with SCD are living longer,” says Dr. Krishnamurti. “SCD care in children is well-established and good. It’s also good in adults. But we need to know more about how to help adults who have bodies damaged for years and years by SCD.”

In Dr. Krishnamurti’s words, SCD is a “perfect storm.” Most people with SCD have pain that never really goes away. Growing up, people with the disease are in pain, but they still have to go to school, make friends, play and learn how to be adults. Children do all this because they can bounce back easily. But, according to Dr. Krishnamurti, when they are expected to transition to adulthood at a certain age, many people with SCD have a hard time. Their bodies are worn down by the disease. Keeping a job may be difficult if a person is out sick or in the hospital a lot. People with SCD may have grown up economically disadvantaged because their parents couldn’t keep jobs due to caring for them. When they become adults, they may not be living with their caretakers anymore, which may affect their health. They face many challenges outside of the disease itself, and the solution isn’t just to find a new medication.

Medical care for adults with SCD is improving. Doctors and hospitals understand more about treating the pain of SCD. One example is through the UPMC Adult Sickle Cell Disease Program. The goal of this program is to help patients manage their disease and improve their quality of life. Almost any other condition that causes pain has something people can see—swelling, bleeding, redness, broken bones or a cut. Because there is no way to measure how much pain a person is in, doctors have to rely on what patients tell them. Doctors are now working with patients on pain management plans that are created just for them.

“UPMC hospitals are prepared to help people with SCD who are having a pain crisis,” says Dr. Krishnamurti. “All you have to do is go to a UPMC emergency room, tell them your name, that you have SCD and that you’re in pain. They’ll know you need to jump to the front of the line. Hospital staff will know exactly how to treat you because your individualized pain management plan is in the system and in the electronic medical record.”

Dr. Krishnamurti sees many reasons to view this as an exciting time in SCD research and treatment. Bone marrow transplants can cure the disease in selected patients with severe SCD who have the right donor. Studies are being done with transplants from donors who aren’t related to the patient. Studies will be done next year with gene therapy, where a patient’s own marrow is mixed with an anti-sickling gene and then transplanted into the patient’s marrow. A drug called hydroxyurea can help modify the disease. Taken daily, the drug helps to make the disease better over time, although it doesn’t give people immediate pain relief. Dr. Krishnamurti received a $2 million grant to develop an online tool for people with SCD that can make it easier for them to find the treatment that best suits them.

It is also possible to have sickle cell trait, which means people don’t have the disease themselves but can transfer it to their children. If people believe they are at risk for passing on SCD, they can talk to their health care providers about getting tested for it and receiving genetic counseling. If people have SCD or a family member with it, Dr. Krishnamurti encourages them to get regular medical treatment and educate themselves as much as they can about SCD so they can help themselves or a loved one. More information on the UPMC Adult Sickle Cell Disease Program is at http://www.upmc.com/ Services/sickle-cell/Pages/ default.aspx.

 

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