Sickle cell anemia primarily affects people with African, Mediterranean, Middle Eastern, and Indian ancestry (Learn genetics, 2010; NHLBI, n.d.; Vorvick et al., 2010). Sickle cell anemia occurs when a person inherits two sickle cell gene, one from each parent, that cause the red blood cells to change and become crescent shaped. The underlying problem involves hemoglobin, a component of the red blood cells. Hemoglobin is a protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs (Nabili, 2008, para. 1). In sickle cell anemia, the hemoglobin is flawed. As a result, the cells become sickle shaped and can’t travel as easily through blood vessels. Sickle cell anemia is an illness which has one primary cause, but a variety of symptoms and treatments.
Like most illnesses, sickle cell anemia has one primary cause. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes (Shiel, 2006, para. 3). The sickle cell gene causes the body to make abnormal hemoglobin. As mentioned above, hemoglobin is a protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs (Nabili, 2008, para. 1). A person with normal red blood cell will have hemoglobin A, however a person with sickle cell disease will have hemoglobin S (Sickle cell Disease Association of America, Inc.,2005, para 3). Normal red blood cells are usually round and soft and travel easily through small vessels; however sickle cells are abnormally shaped and stiff, thus causing them to have difficulty travelling through small vessels. Sickle cells can clog vessels depriving tissues of oxygen. As spoken of in two articles, sickle cells have a shorter life span than normal red blood cells. Normal red blood cells can live 120 days compared to sickle cells that only last 10 to 20 days, resulting in anemia. (Learn genetics, 2010 & Nabili, 2008)
Sickle cell anemia does not only have one primary cause, but also has a variety of symptoms. Sickle cell anemia has various symptoms that may vary upon every individual. All the symptoms that a person may experience are basically the direct result of the abnormal shaped blood cells. These cells deprive tissues of oxygen and in time the lack of oxygen to the tissues damages the organs and leads to pain.
Under hypoxic conditions, the abnormal hemoglobin start to change shape. They become sickled, stiff, and have greater difficulty moving though the blood vessels. As a result they begin to stick together and eventually block the tissues from receiving nutrients and oxygen. This causes the tissue to become infarcted and leads to pain. In a hypoxic states the cells are forced to make energy also known as adenosine triphosphate (ATP) without oxygen. This is called anaerobic glycolysis and results in the production of lactic acid as a byproduct (citation). The presence of lactic acid lowers the pH of the environment, the cells must recycle lactic acid back into the cells, and ATP production is significantly slowed. The cells
Sickle Cell Anemia is an autosomal recessive disorder, which increases blood thickness hence affects the smooth flow of blood. This causes by the destruction of red cells where the normal shape of red cell become a stiff sickle shape. As a result, sufficient oxygen does not reach the vital organs. A vaso-occlusive crisis arises from hindrance of blood circulation by sickled blood cells. It is characterized by sturdy pains and in some cases; it may cause permanent organ damage. This paper seeks to formulate a nursing diagnosis, as well as a plan of care that includes nursing interventions and the methods to be used to evaluate whether the interventions are successful (American Sickle Cell Anemia Association).
Fanconi Anemia (FA) is a hereditary recessive disorder that is characterized by defective DNA cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and cytogenetic instability. FA is caused by mutations in a complex set of proteins, including a FA core complex which contains eight out of sixteen known FA genes and their associated proteins. The FA proteins work together in a genome maintenance pathway called the FA/BRCA pathway, which plays an important role during the S phase of the cell cycle. The list FA complementation group (FANC) are: FANC-A, -B, -C, -D1/BRCA2, -D2, -E, -F, -G, -L, -I, -J/BRIP1,-M, -N/PALB2, -P/SLX4, -O/RAD51C and XPF. While the members of the FA complementation group do not share sequence similarity, they are related by their assembly into a common nuclear protein complex. Beside these sixteen FA proteins, there are several other proteins associating with the FA core complex, known as the FA Associated Proteins (FAAPs): -100, -24, -20, -16/MHF1, and -10/MHF2. FA plays an important role in the genomic stability through DNA repair of interstrand crosslinks (ICLs). When mutations occur in these genes, however, abnormal cell division, which eventually causes cancer and congenital defects occurs in most patients (Nalepa, et al., 2013; Tomida, et al., 2013).
1. Sickle Cell Disease is life-threatening and has a risk of of causing depression. In this study I examine the experiences that Sickle Cell patients go through specifically at emergency healthcare facilities to find out if there are any negative stigmatizations surrounding this disease. There may be judgments that are made about these patients from healthcare professionals when they seek drugs for their pain relief that may cause the stigmatization to occur. I will also investigate why individuals that have Sickle Cell Disease experience longer waiting times at emergency healthcare facilities and the lack of control they may have over their care regime.
Symptoms of a sickle cell are shortness of breath or fatigue and delayed growth in the development of children. Severe pain can be caused as a symptom when the blood gets stopped up in the vessel and causes the patient 's heart to pump slower, so people begin to feel pain in the body and feel out of breath.
Sickle Cell Disease (SCD) (also known as Sickle Cell Disorder or Sickle Cell Anemia) is an inherited blood disorder where the red blood cells have abnormal sickle-shaped hemoglobin S (HbS) called sickle haemoglobin (National Heart Lungs and Blood Institute (NHLBI), 2015). The disease, according to medical sciences, is inherited from both parents as part of their genetic makeup and is usually caused by some abnormalities in haemoglobin which is a protein in red blood cells that conveys oxygen through the body. Whereas normal red blood cells are round, in people with sickle cell anemia, a defective substance in red blood cells changes the shape of the cells. The normal haemoglobin called haemoglobin A (HbA) is replaced by HbS which later becomes
Blood serves as the body transport system; blood carries oxygen to the lungs and cells throughout the body. It takes carbon dioxide or toxins from out the body. The components of the blood fight off different diseases by recognizing engulfing microorganisms and molecules from overseas that doctors found in the blood. The other components support the transports through the kidneys, hormones in the body, and the digestive system to help pass the nutrients through the body.
Sickle cell anemia is a disease that reforms the patient’s red blood cells, which makes the red blood cells has an abnormal shape like a sickle. Sickled red blood cells can result to severe anemia; decrease causes numerous painful symptoms in patients. A defective protein called hemoglobin is what cause the abnormal shape of the red blood cells in the sickle cell patients.
Sickle-cell anemia is a genetic disorder that makes your body produce red blood cells that are abnormal in shape. This disease is also widely known as hemoglobin SS disease. Unlike normal red blood cells, sickle cells are rigid and tenacious. Due to their shape and rigidness, they can block blood flow. In turn, this could cause organ damage to the body. Sickle cells are also fragile and die very easily due to the fact sickle cells have a lifespan of twenty days instead of the normal one hundred and twenty days for normal red blood cells.This causes the body to have a lower blood cell count, hence the name anemia in sickle cell anemia.
Sickle cell anemia occurs when an abnormal form of hemoglobin (HbS) is produced. HbS molecules tend to clump together, making red blood cells sticky, stiff, and more fragile, and causing them to form into a curved, sickle shape. Red blood cells containing HbS can go back and forth between being shaped normally and being sickle shaped until they eventually become sickle shaped permanently. Instead of moving through the bloodstream easily, these sickle cells can clog blood vessels and deprive the body's tissues and organs of the oxygen they need to stay healthy.
“In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans” (NHLBI, NIH, Who is at risk for sickle cell anemia). SCD is a disease that is a serious disorder in which the body can make normal blood cells and sickle shape cells. Sickle shape cells can block the blood flow in your vessels and cause pain or organ damage also put you in risk for infections. SCD has no cure available but there are many treatments out there to deal with the complications of it. From over years treatments did get better from way back in the day doctors have learned. Sickle cell disease has lack of attention and funding because it’s only affecting African American the most.
Sickle cell anemia is an inherited disease of red blood cells. Normally red blood cells contain a protein called hemoglobin A, which carries oxygen to all the organs in the body. With sickle cell anemia, however, the body makes a different kind of protein, called hemoglobin S.
Sickle Cell Anemia is an inherited blood disorder that is extremely challenging to live with. Its symptoms are many, with the most prominent being severe pain that can become unbearable to the point where hospitalization is required. Because sickle cell is a genetic disorder, a person is born with it and it is usually permanent. Unfortunately, there are risks and complications associated with this disease. However there are various treatment options for a patient with sickle cell and also support to help people understand and cope with this challenging disease.
The child can obtain either the sickle cell trait or have a sickle cell disease. The sickle cell trait carries the abnormal gene of the person but they have normal hemoglobin without any symptoms. The patient can start developing symptoms related to the disease if they undergo any stress, infection, exhaustion, or hypoxia with mild anemia. Sickle cell disease occurs when normal hemoglobin has been replaced with sick...
Over the past few years, the use of stem cells have given rise to many new clinical discoveries and advancements for researchers. Mesenchymal stromal/stem cells (MSCs) are stem cells that are found in bone marrow that can be used to help repair and regenerate certain tissues such as cartilage or fat found in bone marrow. These cells contribute bone marrow transplantation, a method used to help treat patients with various diseases such as sickle cell anemia. With this, researchers have found ways to use mesenchymal stem cells to help achieve the overall cure for the blood disease, sickle cell anemia.