Sickle cell disease research and care: A century of progress A century ago, physician James Herrick discovered something unusual in a sample of blood taken from one of his patients, Walter Clement Noel. While healthy red blood cells look like donuts without a hole, Mr. Noel's cells were misshapen. "The shape of the reds was very irregular, but what especially attracted attention was the large number of thin, elongated, sickle-shaped and crescent-shaped forms." His report was the first record in Western medical literature of what has come to be known as sickle cell disease. Over the past 100 years, research on sickle cell disease and other diseases that affect hemoglobin has played an important role in the advancement of genetics and molecular biology and has sparked innovations in other areas of medicine. People who have sickle cell disease now lead longer, more productive lives. In the early 1970s, the average lifespan was only 14 years. Today, individuals with sickle cell disease are living into their 40s, 50s, and beyond. Sickle cell disease Sickle cell disease, also known as sickle cell anemia, is inherited. People who have the disease inherit two copies of the sickle cell gene—one from each parent. The gene codes for production of an abnormal hemoglobin. If a person inherits only one copy of the sickle cell gene, he or she will have sickle cell trait. In the United States, sickle cell disease affects an estimated 70,000 to 100,000 people, the majority of whom are African Americans. Sickle cell disease occurs in approximately one out of every 500 African American births and one out of every 36,000 Hispanic American births. In addition, about 2 million people in the United States have sickle cell trait. All States screen newborns for sickle cell disease.
Learn more about the basics of sickle cell disease Symptoms and complications of sickle cell disease The symptoms and complications of sickle cell disease vary widely. Some people have mild symptoms while others have very severe symptoms and are hospitalized frequently for treatment. Normal red cells pass smoothly through the blood vessels, but sickled cells are stiff and sticky. Sickled cells tend to form clumps that can block blood flow and lead to episodes of extreme pain, known as crises, as well as chronic damage to vital organs. Some people have crises less than once a year, while others may experience 15 or more crises in a year. Painful crises are the leading cause of emergency room visits and hospitalizations of people who have sickle cell disease.
Learn more about the symptoms and complications of sickle cell disease The future of sickle cell disease The National Heart, Lung, and Blood Institute (NHLBI) has played a crucial role in not only funding basic research but also devising and implementing large clinical trials, and conducting workshops and consensus meetings to guide the research agenda. - Clinical trials. The contributions of individuals in clinical trials have been essential for the development of new treatments. Because of this participation, we have gained an understanding of the molecular causes of the disease; developed effective approaches for preventing and treating its complications including infection, stroke, and lung disease; and even cured a small number of people using bone marrow transplantation.
There are a large number of ongoing clinical trials on sickle cell disease and related disorders across the country and around the world. For information, visit http://www.clinicaltrials.gov/ and search on terms such as 'sickle.' - Research portfolio. The NHLBI continues to look ahead to find new and better treatments for sickle cell disease. A revitalized research portfolio of basic, clinical, and translational research addresses the genetic factors affecting disease manifestations, regulation of hemoglobin synthesis, development of drugs to increase fetal hemoglobin production, and the development of animal models for preclinical studies. The NHLBI's research portfolio also includes transplantation of blood-forming stem cells, gene therapy, a better understanding of and new treatments for pain, optimal uses of blood transfusion, and management of iron overload related to blood transfusions.
- Surveillance and Research Program. The NHLBI is working with theCenters for Disease Control and Prevention and six State health departments (in California, Florida, Georgia, Michigan, North Carolina, and Pennsylvania) to develop a new surveillance system to determine the number of patients diagnosed with a family of inherited blood disorders including sickle cell disease, thalassemias, and hemoglobin E disease. The Registry and Surveillance System in Hemoglobinopathies (RuSH) project will help researchers determine the most effective plans for developing future hemoglobinopathy registries. Research findings based on data from disease registries may provide new ideas for drug therapies and can spur the development of tests that can determine severity of diseases over the lifespan.
Learn more about the launch of the surveillance and research program (press release) - Evidence-based clinical practice guidelines. The NHLBI is leading an effort to develop evidence-based clinical practice guidelines for the care of people who have sickle cell disease, which are expected to be released in 2011. The NHLBI will work with other agencies within the Department of Health and Human Services to disseminate the clinical guidelines with an emphasis on use by primary care practitioners.
- Public awareness and education campaign. To ensure that the new guidelines reach their intended audiences, the NHLBI will launch a public awareness and education campaign to focus nationwide attention on sickle cell disease as a serious public health issue.
The NHLBI continues to engage community-based and scientific organizations that are involved in the management of sickle cell disease. Actively engaging patients, families, practitioners, and communities is essential to improving the lives of persons affected by sickle cell disease. Key highlights from A Century of Progress: Milestones in Sickle Cell Disease Research and Care | 1910 | Sickled cells first described by physician James Herrick. Term "sickle cell anemia" coined based on paper. | | 1949 | Linus Pauling and others reveal that sickle cell disease is due to abnormal hemoglobin protein molecule. Term "molecular disease" coined. | | 1955 | Blood test developed to identify abnormal hemoglobin, a method still used today to confirm sickle cell disease diagnosis. | | 1957 | Scientists show abnormality of sickle hemoglobin due to amino acid substitution in protein, making sickle cell disease the first genetic disorder whose molecular basis is known. | | 1963 | The three dimensional structure of the hemoglobin protein deciphered using x-ray crystallography. Monumental accomplishment took over 20 years to complete. Max Perutz received the Nobel Prize for this work in 1967. | | 1972 | National Sickle Cell Anemia Control Act provides for establishment of voluntary sickle cell disease screening, counseling; public and professional education; and research and training in diagnosing, treating, and controlling disease. | | 1972-3 | National Sickle Cell Disease Program established. The National Heart and Lung Institute (the precursor to the NHLBI) begins funding the first 15 of its comprehensive sickle cell centers. | | 1978 | The NHLBI launches a multi-center study with 4,000-plus individuals from newborns to age 70—the first study to document clinical course of disease from birth to adulthood. | | 1984 | Bone marrow transplant performed to treat a child with leukemia. It also cures the child's sickle cell disease. | | 1986 | An NHLBI study shows penicillin as a preventative measure in children with sickle cell disease 3 months to 3 years old can reduce the incidence of Streptococcus pneumonia infection, a major cause of childhood death, by 84 percent. Practice later becomes widely adopted. | | 1987 | NIH Consensus Development Conference recommends screening all U.S. newborns for sickle cell disease and giving penicillin to all affected infants by three months of age. | | 1996 | Multi-center study of bone marrow transplantation in children with sickle cell disease finds the procedure can cure young sickle cell patients who have siblings that share a specific protein. | | 1998 | The FDA approves hydroxyurea for sickle cell disease treatment in adults based on NHLBI-sponsored study. | | 2009 | Study in NHLBI laboratory finds modified blood adult stem-cell transplant regimen reverses sickle cell disease in nine of 10 adults severely affected by disease. | | 2009 | The NHLBI convenes workshop of researchers, health care providers, advocacy organizations, patients and others to discuss key public outreach issues. | | 2010 | James B. Herrick Symposium - Sickle Cell Disease Care and Research: Past, Present and Future, commemorates 100th anniversary of Herrick's paper that first identified sickle cell disease. | Where can I learn more? - James B. Herrick Symposium
The James B. Herrick Symposium, Sickle Cell Disease Care and Research: Past, Present, and Future, will be held on the National Institutes of Health main campus in Bethesda, Maryland on November 16-17, 2010. Scientists, practitioners, academicians, members of the sickle cell community and the public are invited to attend the event or follow it via videocast. - NHLBI Sickle Cell Disease Awareness and Education Strategy Development Workshop Report (2010)
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September 2010 |
