Sickle cell anemia, or sickle cell disease, is a genetically inherited blood disorder that affects the shape of red blood cells. Red blood cells are normally round, smooth, and soft, which allows them to move easily through the blood system. In sickle cell disease, blood cells are crescent, or sickle-shaped, and rigid. This is due to blood cells that contain an abnormal type of hemoglobin. The abnormal shape of red blood cells prevents the cells from properly moving through blood vessels and carrying oxygen to all parts of the body. The sickle-shaped blood cells die sooner than ordinary blood cells, which results in significantly fewer red blood cells and causes anemia. People with sickle cell disease experience chronic anemia and periodic episodes of pain, sometimes referred to as “crisis.” When the sickle-shaped blood cells block the flow of blood and oxygen to the limbs and organs of the body, severe pain and damage to tissues and organs can result. People can experience pain episodes affecting the arms, legs, chest, and abdomen; damage to the lungs, spleen, kidneys, and liver, among other organs; have a stroke; and develop acute chest syndrome and bacterial infections. Symptoms can range from mild to very severe.   Abstract source

In sickle cell disease, the aberrant assembly of hemoglobin fibers induces changes in red blood cell morphology and stiffness, which leads to downstream symptoms of the disease. Therefore, understanding of this assembly process will be important for the treatment of sickle cell disease. By performing the highest spatiotemporal resolution measurements (55 nm at 1 Hz) of single sickle hemoglobin fiber assembly to date and combining them with a model that accounts for the multistranded structure of the fibers, we show that the rates of sickle hemoglobinaddition and loss have been underestimated in the literature by at least an order of magnitude. These results reveal that the sicklehemoglobin self-assembly process is very rapid and inefficient (4% efficient versus 96% efficient based on previous analyses), where net growth is the small difference between over a million addition-loss events occurring every second. Abstract source Full text

In 2008, for the first time in Centers for Disease Control and Prevention (CDC) history, death due to motor vehicle accident was no longer the leading cause of injury mortality non-medical death. Drug overdose was the number one cause of non-medical death in the United States. Since 2008, the number of deaths due to drug overdose has been increasing steadily. The total number of deaths due to drug overdose was 36,450 in 2008. In 2013, the total amount of deaths due to drug overdose was 43,982. Given the alarming nature of these statistics, patients who requested an opioid prescription became targets of suspicion and possible accusation of being drug addicts and/or drug seekers and possibly potential victims of overdose. The advent of precision medicine, however, seems to justify such behavior. Since the pharmacodynamics and pharmacokinetics of an opioid vary among patients considerably depending on their individual specific genetic and epigenetic factors, it is conceivable that a certain opioid or a certain dose of an opioid do not apply to all patients all the time. Abstract source Full text

Gene therapy is an experimental technique that aims to treat genetic diseases by altering a disease-causing gene or introducing a healthy copy of a mutated gene to the body. The U.S. Food and Drug Administration approved the first gene therapy for an inherited disease. Gene Therapy for Sickle Cell Anemia Sickle cell anemia is caused by a mutation in the HBB gene which provides the instructions to make part of hemoglobin, the protein in red blood cells that carries oxygen. Researchers are working on two different strategies to treat sickle cell anemia with gene therapy. Both of these strategies involve genetically altering the patient’s own hematopoietic stem cells. These are cells in the bone marrow that divide and specialize to produce different types of blood cells, including the red blood cells.   Abstract source

Sickle cell trait is an inherited blood disorder that affects 1 million to 3 million Americans and 8 to 10 percent of African Americans. Sickle cell trait can also affect Hispanics, South Asians, Caucasians from southern Europe, and people from Middle Eastern countries. More than 100 million people worldwide have sickle cell trait. Unlike sickle cell disease, a serious illness in which patients have two genes that cause the production of abnormal hemoglobin (the substance in red blood cells that helps carry oxygen), individuals with sickle cell trait carry only one defective gene and typically live normal lives. Rarely, extreme conditions such as severe dehydration and high-intensity physical activity can lead to serious health issues, including sudden death, for individuals with sickle cell trait.   Abstract source

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Christiana Care is one of the country’s most dynamic health systems, centered on improving health outcomes, making high-quality care more accessible and lowering health care costs. The mission of Christiana Care Sickle Cell Program is to allow you to continue your treatment in a warm and friendly environment with a team of medical experts who understand your unique medical history and the concerns that are relevant to your stage of life. Our team of hematologists, physical therapists, nurses and social workers takes the time to create comprehensive plans for surgeries, births and other life events. Sickle cell disease can cause damage to the liver, heart, kidneys, gallbladder, eyes, bones and joints. Our approach is to work with you to manage common symptoms like anemia and jaundice and to try to prevent crisis and damage to your organs. Our goal is to help you get the vaccinations, transfusions and other treatments that you may need to minimize pain and live life to the fullest. Our team of medical experts will work with you to help prevent and stop bleeding episodes. We will review your unique medical history and create a personalized approach based on the severity of your condition and how you’ve responded to past treatments and therapies. We can also provide insights on ways to stay active while minimizing your risk of bruising and injury. Official website

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About 100,000 Americans have sickle cell disease (formerly known as sickle cell anemia). Most of them are black. And many of them have faced challenges from the health care industry in getting their condition addressed. Sickle cell disease can cause chronic pain, multi-organ failure and even lead to strokes. Kaiser Health News reports that patients and their families say the search for treatments is “slow, underfunded, ineffective or too limited in scope.” In summer of 2017, the FDA approved a new sickle cell drug — the first in two decades — making it just the second option on the market for patients. It recently hit pharmacy shelves, but insurers have backed away from covering it, leaving the average monthly cost of $3300 up to patients to pay. Related story