Now both patients of the Sickle Cell Center at the University of Illinois at Chicago have an alternative to the ER: the university's new Sickle Cell Acute Care Treatment Center, 1740 W. Taylor St. The major advantage for patients is that they can get immediate and aggressive treatment because doctors and nurses already are familiar with them."They know what works, so we go right to what works and nip it," said Wadlington, who lives in Markham. He has been a UIC patient for 33 years and has two children with the disease and three with the sickle cell trait.

Dr. Joseph DeSimone, director of the UIC Sickle Cell Center and UIC professor of medicine, explains that severe attacks, or pain crises, occur when small blood vessels become blocked with sickled red blood cells. That can lead to organs throughout the body being poorly oxygenated and possibly damaged.The new unit is only for those patients without complications, DeSimone said. Those who are pregnant or also suffering from shortness of breath, numbness, fever or other symptoms should still go to the ER, he said.
He knows misunderstandings can occur when sickle cell patients seek care.

"Emergency-room workers see the same people and wonder, ‘Why are you here?' But people have varying degrees of tissue and organ damage. Some people become resistant to drugs. Sometimes they need an even higher amount," DeSimone said. There also are common misconceptions about sickle cell disease — that it is limited to African-Americans, the doctor said. In fact, the inherited blood disorder primarily affects people with ancestors from the malaria belt — from Italy to Greece to India, the Middle East and especially Africa, he said.

The same sickle cell gene trait that can result in the disease if inherited from both parents also protects people from dying from malaria, he said."They may get infections, but they don't die from malaria," he said. "People who don't have the sickle cell gene commonly die from malarial infection. This is why the gene is so common in these areas." DeSimone hopes the acute care center's familiar environment will encourage more patients to seek care in a crisis.

"The sooner we can treat them the better off they are," DeSimone said, adding that the center reduces health care costs because there are fewer hospitalizations.Janie Hernandez, 28, a second-year medical student at the UIC Medical Center and a sickle cell patient, said that with her busy days she can't afford to fall behind in her studies, so she has sought help at the acute care center in the morning and been well enough to attend classes in the afternoon.

"I have chronic symptoms. I am in pain every day," Hernandez said. "It's difficult when you are in pain to just sit around. Sometimes you are crying. It's not a pleasant environment at all, so the center is very effective. I love the staff. It's the nurses I always see, not some random nurses that don't know me. These are people who have treated me since I was a teenager." DeSimone said the "driving force" behind the acute care center was Linda Collins, a patient who died in 2002.

"Linda had a network and she knew how to get funding. She had a vision of what we needed to do, to grow, to get better," DeSimone said. Collins also began the Have A Heart for Sickle Cell Anemia Foundation, a nonprofit organization whose goal is to diminish suffering and improve the quality of life of people affected by sickle cell disease, the organization's Web site states. http://www.haveaheart4sicklecellanemia.org/

Future of Newborn Screening Envisioned: Proceedings Now Viewable Online

WASHINGTON – January 7, 2010 – More than 200 health professionals, family members, and others participated in the recent Newborn Screening Summit: Envisioning a Future for Newborn Screening to discuss how long-standing state public health programs can evolve to keep up with new technology, societal and governmental trends, and medical advances. “This meeting provided a wonderful opportunity to visualize the newborn screening system from the point of view of many stakeholders. Working together we can provide the support the entire system needs,” said Sharon Terry, President and CEO of Genetic Alliance, which hosted the event in Bethesda, Maryland, December 7-8, 2009.

Families, healthcare providers, researchers, state programs facilitators, and laboratory professionals all participated in the Summit both in-person and virtually. The meeting was webcast live, and the videotaped proceedings can now be accessed at: http://www.geneticalliance.org/ws_display.asp?filter=nbs.summit.

States screen newborns for at least 29 conditions. Over the past 10 years, newborn screening programs have kept pace with emerging science and expanded accordingly. More than 4 million babies are screened annually, which allows for the rapid identification of infants with diseases requiring early intervention. For example, as a result of this screening and intervention, children with the inborn enzyme deficiency phenylketonuria (PKU) can be spared serious disability and death.

The system faces many challenges, however. Procedures are not standardized across states, and testing for some diseases is complex and requires follow-up to reach a definitive diagnosis – a process that can cause parents anxiety. The rapid advances in genetic screening technology and increasing state resource deficits are also impacting the system, making this a critical time for newborn screening.

As a public health initiative, newborn screening impacts us all. Transparency is a guiding principle in Genetic Alliance’s work, and a priority of this meeting was to engage individuals with as many perspectives as possible. “Attendees had open, frank conversations that are often not possible at meetings,” said Natasha Bonhomme, director of Genetic Alliance newborn screening projects. “Each participant contributed immensely through presentations, comments, questions, and suggestions. People specifically said that they felt valued.” The Summit promoted dialogue among all stakeholders in newborn screening and identified actionable steps for the improvement of the system.

Boston Team Ready to Distribute Lines Worldwide But Obstacles Remain. New Website to End Public Confusion and Push Science Forward

Researchers at Children's Hospital Boston Aim to Demystify Science and Share Potential for Treatments and Cures on Range of Diseases from Diabetes to Parkinson's

BOSTON, March 9 /PRNewswire-USNewswire/ -- Exactly one year to the day after President Obama's historic decision to reverse an eight-year restriction on federally funded embryonic stem cell research, the Children's Hospital Boston Stem Cell Program today announced the development of a unique, comprehensive web site and released a candid video message from its top researchers on the current state of stem cell research to introduce the new site: www.stemcell.childrenshospital.org.

Designed as an engaging and accessible resource, the new site seeks to demystify the science, clear up misperceptions and illuminate the public about the power and value of different types of stem cells to create cost effective treatments and potential cures for a range of diseases -- including Type I diabetes, Parkinson's, leukemia and other blood cancers, Huntington's, sickle cell anemia, neurological disorders, and more.

Beginning today, visitors to stemcell.childrenshospital.org can access an introductory video, featuring Drs. Leonard Zon and George Daley, along with Stem Cell Task Force leader President of the Kraft group and the New England Patriots, Jonathan Kraft -- who together cite the promise and ongoing challenges in this field and call for new support.  Visitors can also sign up to receive updates leading up to the official launch of the website -- which will be fully operational on April 26, 2010.

The timing of the April 26th date is also significant in the field of stem cell research, because it marks the 5th anniversary of the release of guidelines from the US National Academy of Sciences (NAS) for the responsible conduct of embryonic stem cell research.  Children's was among the first to adopt those guidelines, and in the five years since the guidelines were released, the Stem Cell Program at Children's Hospital has emerged as an internationally recognized leader in stem cell research.

Despite operating under significant constraints over the past eight years, Children's made remarkable progress on multiple fronts:

*   Children's created an aggressive business plan, their roadmap for bringing research from the bench to the bedside.

*   Children's produced 11 of the first 13 hESC lines approved by the US National Institutes of Health (NIH) for federal funding in December, 2009.  Children's is receiving requests for these lines from scientists across the U.S. who are studying diseases from diabetes to Parkinson's.

*   Drs. Daley and Zon have been awarded major grants from the NIH for the creation of human models of disease and to study whether stem cells reprogrammed from adult stem cells (iPS) cells are equivalent to those derived from human embryos, one of the field's most pressing questions.

*   Dr. Zon's research has already been rapidly translated from the laboratory to the clinic: studies on blood formation in the zebrafish -- a model organism pioneered by the Zon lab -- led to the discovery of a drug that expands blood stem cells, which is now being tested in patients undergoing umbilical cord blood transplants.

*   Children's Researchers were the first to isolate lung stem cells, with implications for treating lung cancer, cystic fibrosis and pulmonary diseases.

*   Science Magazine cited Dr. Daley's creation of disease-specific stem cells from patients in its 2008  "Breakthrough of the Year" issue.

"Stem cell research is an incredibly exciting field and this is an extraordinary time to be part of it," said Leonard Zon, MD, Director of Children's Hospital's Stem Cell Program.  "In just the five short years since the release of the NAS guidelines, we have seen major breakthroughs in the science and in the techniques we can use to investigate potential therapies for a wide range of diseases.  It's absolutely essential that we continue that forward momentum."

The Human Face of Stem Cell Research

Now, the stem cell program at Children's Hospital Boston, the principal pediatric teaching hospital for Harvard Medical School, invites the public to become part of the dialogue and the progress. The new web site will clarify misconceptions about stem cell research and provide a broad range of easily accessible information about the history and science of stem cells, current research and issues, a primer on the ethical debates surrounding stem cell research, and much more. Special areas on the site will be devoted to some of the specific diseases mentioned above -- and will show individuals how they can help. The newsroom portion will feature the latest breakthroughs in the field, and will also enable visitors to opt in to receive the latest updates via Twitter and Facebook.

The site will also give people a chance to experience the human face of stem cell therapy through inspiring videos and interviews with families and patients who have been treated by stem cell transplants or have donated their own cell lines to research in the hope of one day helping to bring about breakthroughs and cures:

*   A teenaged sickle cell patient and gifted student who spent his summer helping out by working in Dr. George Daley's stem cell lab.

*   An avid cyclist paralyzed in an accident five years ago, whose own tissues have been made into stem cells by Children's researchers, who has organized major support for new studies that could one day benefit patients with spinal cord injuries.

*   A family whose decision to conceive a baby daughter using IVF enabled life-saving stem cells from her umbilical cord to save the life of her infant brother, who was born with a fatal genetic defect.

Living in the Moment -  The Terrell Starks story at http://www.courier-journal.com/apps/pbcs.dll/article?AID=20102210307

Read and see the story of one family with two children with sickle cell disease. Video at http://www.courier-journal.com/html/starks/

CDC's new Sickle Cell Disease website! www.cdc.gov/ncbddd/sicklecell
Some of the new features of the site include:

• Information on the brand new surveillance system called RuSH (Registry and Surveillance System for Hemoglobinopathies).
• A health e-card that encourages people to get tested for sickle cell trait.
• Easy-to-read information on facts, symptoms, and treatments. 
• Individualized pages for different visitors - families, healthcare providers, and partners.
• Updated information on CDC activities.

Please help spread the word by linking your website to ours. We've created an easy-to-use linking graphic and description. We also have a badge and button for your social networking page.  They can all be found on the "Partners" page: http://www.cdc.gov/ncbddd/sicklecell/partners.html

NHLBI, CDC Launch Surveillance and Research Program for Inherited Blood Diseases

Six States to Study Sickle Cell Disease and Thalassemias in National Pilot Project

Medical researchers are developing a new surveillance system to determine the number of patients diagnosed with a family of inherited blood disorders known as hemoglobinopathies, including sickle cell disease, thalassemias, and hemoglobin E disease.

The National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health is funding the four-year pilot project, which will involve the Centers for Disease Control and Prevention and six state health departments, to create ways to learn more about the extent of hemoglobinopathies in the United States.

Data collected from the $27 million 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.

To manage the surveillance efforts, the NHLBI has entered into an interagency agreement with the CDC’s National Center on Birth Defects and Developmental Disabilities. As part of the project, the CDC has developed cooperative agreements to create surveillance programs with state health departments in California, Florida, Georgia, Michigan, North Carolina, and Pennsylvania.

Hemoglobinopathies involve problems with hemoglobin, the vital blood component responsible for transporting oxygen throughout the body. Production of abnormal hemoglobin, which occurs in the family of sickle cell diseases and hemoglobin E, or production of too little hemoglobin, which occurs in the thalassemias, can cause organ damage and shorten lifespan. While all states now test newborns for some of these diseases, there is no system to track the diseases nationally. In addition, patients born before screening programs began or those who have immigrated to the United States are not tracked. These statistical gaps make it difficult to know the true impact of hemoglobinopathies in this country. RuSH will help determine how many people are affected by hemoglobinopathies. Such data are essential for public health agencies to allocate adequate resources to meet the medical and social service needs of hemoglobinopathy patients.

“While we have made great strides in developing treatments for patients with sickle cell disease and other hemoglobinopathies, RuSH stands as the first major surveillance and registry program to gather comprehensive demographic and other information on people with these life-threatening diseases,” said NHLBI Acting Director Susan B. Shurin, M.D., a hematology researcher.

Hemoglobinopathies cause health problems when abnormal hemoglobin genes are inherited from both parents. Individuals who inherit a single abnormal gene, which is called carrying a trait, have few of these health problems.

The hemoglobinopathies are most common in areas where malaria has been endemic. Sickle cell disease is the most common hemoglobinopathy in the United States and the condition affects millions worldwide. Of the estimated 70,000 to 100,000 people in the United States with sickle cell disease, most are thought to have African ancestry, although the gene also occurs among people from the Mediterranean and Middle East. The abnormal hemoglobin molecules of sickle cell disease deform red blood cells, causing them to clump together and block blood flow through blood vessels, leading to painful sickle cell crises, organ damage, anemia (lack of red blood cells), and premature death.

Life-threatening complications include infections, acute chest syndrome, stroke, and pulmonary hypertension (increased blood pressure in the lung arteries). Painful crises are the leading cause of emergency room visits and hospitalizations of people who have sickle cell disease. Life expectancy has increased dramatically with state newborn screening programs and early treatment, which can include daily penicillin treatment for patients age five and younger as well as immunizations for other diseases to prevent complications.

Patients with thalassemia syndromes produce less hemoglobin than normal, and the red blood cells that are produced are rapidly destroyed. Signs and symptoms of thalassemia can include severe anemia; slowed growth and delayed puberty; bone problems; and enlarged spleen, liver, and heart. Severely affected individuals require frequent and repeated blood transfusions and treatments to reduce the accumulation of iron in the body. Thalassemia genes are widespread across the Mediterranean, Middle East, Africa, the Indian subcontinent, and Southeast Asia.

Hemoglobin E diseases are most common among persons with ancestors from Southeast Asia. Affected individuals produce a smaller than normal number of red blood cells. Red blood cells in these individuals are smaller than normal and misshapen. These abnormal red blood cells carry less oxygen to organs. Milder forms of hemoglobin E disease may not need treatment, although affected individuals may have mild anemia. Severe forms of hemoglobin E disease can cause significant anemia, bone pain, and other complications.

Through surveillance under the initial phase of the RuSH pilot program, researchers hope to determine the prevalence of the hemoglobinopathies among screened newborns and patients not identified through newborn screening. The data should help determine the prevalence of the various conditions. The research will also help describe the demographic characteristics of individuals with these conditions as well as their geographic distribution. Researchers will also examine the existing health care resources available for patients with hemoglobinopathies.

“The data gathered through our RuSH surveillance efforts will provide critical knowledge about the current state of care available for patients who have hemoglobinopathies,” said Hani Atrash, M.D., M.P.H, director of the Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities at the CDC.

CDC Starts Blood Disorders Section and Conference

The Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders, in partnership with the Health Resources and Services Administration, the National Heart, Lung, and Blood Institute, and the American Society of Hematology is pleased to announce the National Conference on Blood Disorders in Public Health. The purpose of this conference is to serve as the catalyst for developing a nationally recognized public health framework for promoting the health of and improving outcomes among people at risk for or affected by a non-malignant blood disorder. The conference will strengthen partnerships among networks and organizations whereby through the 10 essential services of public health we can highlight the potential of public health strategies in addressing the prevention of blood disorders or their complications. Many abstracts and article are listed below. The conference objectives were:

• Define public health as a system and the respective role of federal agencies, state/county health offices, treatment networks
  and professional/consumer organizations within it.
• Describe how local, state, and federal partners share responsibility for promoting and improving the health and preventing complications of people at risk for or affected by blood disorders.
• Identify strategies to develop a public health practice context for the work being done in blood disorders.
• Create new linkages with colleagues and resources to enhance partnerships.
• Improve practice and strengthen the public health system.

CDC Starts Blood Disorders web site  List Serv for email updates

The web site is http://www.cdc.gov/ncbddd/blooddisorders/index.html

To Subscribe to the  Blood Disorders Listserv  FOLLOW THESE INSTRUCTIONS EXACTLY

Send an e-mail to:  Listserv@cdc.gov
Do NOT put anything in the subject line / box.  Leave it completely blank.
On the very first line of the text message type:
Subscribe <Blood_Disorders> <your-full-name>
Later that day, or the next day you should receive an e-mail with instructions on how to use the listserv.

CDC launches a New and Improved Sickle Cell Web

The newsite at http://www.cdc.gov/ncbddd/sicklecell/index.html  contains articles, fact sheets, links, pod casts, data and statistics.

Nursing patients with sickle cell anemia has rewards: A Nurse's Journal

By Plain Dealer guest columnist  at http://www.cleveland.com/healthfit/index.ssf/2010/02/nursing_patients_with_sickle_c.html

Grants and Request for Proposals page - For the latest in grant opportunities to benefit sickle cell care, research and treatment. Click Here