Sickle Cell Disease 101: Commonly Asked Questions

September 22, 2014

Body

Sickle Cell This blog was co-written by Dr. Alex George, Co-Director of Texas Children’s Sickle Cell Center. Did you know September is National Sickle Cell Awareness Month? At Texas Children’s Sickle Cell Center we see close to 1,000 children each year. And with every family that comes in, we receive a lot of important questions, which is why I wanted to take the time to answer some of the most commonly asked questions surrounding sickle cell disease: What is sickle cell disease? Sickle cell disease is an inherited blood disorder in which the red blood cells can become crescent shaped like a moon or sickle. Red blood cells should be shaped like a disc that looks like a doughnut with the hole filled. This doughnut shape allows red blood cells to flow freely and survive longer in the blood vessels. Sickle shaped red blood cells do not survive as long as normal red blood cells. They can also clog the blood vessels, blocking blood flow to an organ or tissue. A combination of a low blood count (anemia) and blood vessel blockage is responsible for the complications of sickle cell disease. Are there different types of sickle cell disease? Yes, there are four common types of sickle cell disease. The most common form is hemoglobin SS. The second most common form is hemoglobin SC. The other two types of the disease are sickle beta-zero thalassemia and sickle beta-plus thalassemia. Hemoglobin SS and sickle beta-zero thalassemia are considered the most severe types, and are sometimes referred to as sickle cell anemia.  How common is it? An estimated 80,000 to 100,000 people in the United States have sickle cell disease, making it the most common single-gene genetic disease in this country. Texas has among the largest populations of patients with sickle cell disease of all the states. One in every 500 African-Americans and one in every 3,600 Hispanic Americans have sickle cell disease.  It is important to note that although these are the two most common groups affected, sickle cell disease can be found in any race and/or ethnic group.  How is it diagnosed? In the U.S., sickle cell disease is diagnosed through a newborn screening process. In the state of Texas, this testing is performed twice: once shortly after birth and then again at one week of age. The results of these tests go directly to the physician identified by the child’s parents, with the recommendation the child be referred to a specialized center, like Texas Children’s Sickle Cell Center. This screening allows us to diagnose and identify children with sickle cell disease before complications occur. What kind of challenges might patients face? Anemia, or low blood levels, occurs in all forms of sickle cell disease. Some children may only have mild anemia, but others will have severe anemia. The anemia can cause a child to feel fatigued or tired, and can affect physical and mental growth as well. The most common and well known complication is pain crisis. Pain crises occur when sickle cells block blood flow to a portion of a bone, and they can require visits to the sickle cell clinic, emergency room or even require admission to the hospital for treatment. Additionally, patients can develop a variety of problems with virtually all organs of the body as they get older. It is important to be aware that sickle cell disease is a chronic condition and, like high blood pressure or diabetes, can cause ongoing damage to the body even when the patient does not feel ill. What is the treatment plan/what are some treatment options? At Texas Children’s Sickle Cell Center, our first treatment approach is to prescribe an antibiotic called penicillin. Taking penicillin twice daily for at least the first 5 years of life has been shown to significantly reduce serious infections and death in young children with severe forms of sickle cell disease. Immunizations are also important to prevent infections. Blood transfusions can be used to treat certain types of sickle cell disease complications. Additionally, a small number of children may require blood transfusion monthly to prevent stroke. Hydroxyurea (a medication taken by mouth) has been proven to reduce painful crises, acute chest syndrome (a pneumonia-like lung complication), need for transfusion, and hospitalizations in children and adults with sickle cell disease. It has also been shown to prolong life and improve the quality of life in adult patients. Bone marrow transplantation, also called stem cell transplant, is the only curative therapy for sickle cell disease. This therapy has significant risks and should be carefully balanced with the benefit to an individual patient. The most successful transplants come from a matched (full) sibling, limiting the number of patients eligible for transplant. Why is it important for a child with sickle cell disease to be seen by a pediatric hematologist? Children with sickle cell disease should be followed by a pediatric hematologist — a specialist who sees children with blood disorders — at least every six months. This allows the child to be screened for potential complications, as well as for the family to be provided information about the disease.  Depending on disease severity and treatment options, some children may need to come more frequently. A lot has changed in the care of children with sickle cell disease, especially in the last 10 years.  A pediatric hematologist will work with a child’s primary care doctor to screen for potential complications and provide education on sickle cell disease and associated complications, as well as on treatment options for the child. Additionally, our clinic is multidisciplinary — meaning that we have a team of people to help parents and caregivers take care of their child. Our team includes patient care coordinators, social workers, child life specialists, psychologists and pulmonologists. This team approach allows us to take better care of children and families. What kinds of medical advances/research have helped patients with this condition? Currently, there is a lot of amazing research taking place across the U.S. and here at Texas Children’s Sickle Cell Center to understand this disease better and to develop additional treatments.  The success of hydroxyurea therapy has greatly improved the quality of life for many people with sickle cell disease. Hydroxyurea therapy is the first medication taken by mouth that actually reduces the number of sickle cells in the body. This reduces the number of complications the patient experiences. Children with the severe forms of sickle cell disease are at risk of suffering a stroke in early childhood. Annual screening by head ultrasound for stroke risk and preventive treatment of those at highest risk has significantly reduced the number of children who suffer a stroke. In the past, patients with sickle cell disease would often have worsening health as they got older and would frequently die at an early age. With improved care from early childhood, we are beginning to significantly improve both the overall life span and the quality of life for patients with this condition. There are now active studies looking at ways to prevent and treat heart, lung, and kidney problems in sickle cell disease. Researchers are also developing and testing new medications to prevent sickling and shorten the duration of sickle cell pain crises. The development of gene therapy and of more effective bone marrow transplantation procedures offers real hope for cures for sickle cell disease in the near future. What is unique about Texas Children’s Sickle Cell Center? Serving close to 1,000 children each year, Texas Children’s Sickle Cell Center is the largest center of its kind in Texas, and one of the largest in the U.S. Our multidisciplinary team is made up of board certified pediatric hematologists, hematology-trained nurse practitioners and physician assistants, research staff and social workers. Texas Children’s Sickle Cell Center offers ambulatory services, including outpatient blood transfusion and pain treatment programs, a sickle cell pulmonary clinic, sickle cell stroke clinic and genetic counseling, all in one location. Our program conducts state-of-the-art clinical and laboratory research aimed at gaining a better understanding of the disease, preventing its complications and ultimately finding a cure. The center’s research funding is provided by government grants and the philanthropic support of a variety of community-based organizations. This partnership allows us to offer even more novel therapies to our sickle cell patients. How can I get more information? Physicians may call the Sickle Cell Center at 832-822-4362 or 1-855-824-2972. Families may contact us at 832-822-4240. To learn more about Texas Children’s Sickle Cell Center, please visit here and watch the video below:

Post by:

Amber M. Yates, MD

Dr. Amber Yates is Assistant Director of the Clinical Division where she oversees outpatient care. She is also Co-Director of the Sickle Cell Program and a member of the Hematology Center.

Her primary clinical interest is in the care of children with sickle cell disease and other...

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