INTRODUCTION — Sickle cell disease (SCD) is an inherited group of disorders characterized by the presence of hemoglobin S (HbS), either from homozygosity for the sickle mutation in the beta globin chain of hemoglobin (HbSS) or from compound heterozygosity of a sickle beta globin mutation with another beta globin mutation (eg, sickle-beta thalassemia). The hallmarks of SCD are vasoocclusive phenomena and hemolytic anemia. Sickle cell trait is a benign carrier condition characterized by heterozygosity for the sickle hemoglobin mutation.
Screening and diagnosis of sickle cell disorders is discussed here.
Discussions of the clinical manifestations and management of sickle cell disorders are presented separately:
(See "Sickle cell trait".)
(See "Variant sickle cell syndromes".)
(See "Overview of the clinical manifestations of sickle cell disease".)
(See "Overview of the management and prognosis of sickle cell disease".)
(See "Routine comprehensive care for children with sickle cell disease".)
(See "Management of fever in sickle cell disease".)
BACKGROUND — Hemoglobin normally is soluble in the erythrocyte and does not polymerize. Hemoglobin is a tetramer of two alpha globins and two beta globins. Hemoglobin S (HbS) is an abnormal hemoglobin that results from a point mutation in the beta globin gene that causes the substitution of a valine for glutamic acid as the sixth amino acid of the beta globin chain. The resulting hemoglobin tetramer (alpha2/beta S2) becomes poorly soluble when deoxygenated [1].
The pathological polymerization of deoxygenated HbS is essential to vasoocclusive phenomena [1]. The polymer assumes the form of an elongated rope-like fiber, which usually aligns with other fibers, resulting in distortion of ery...
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...t of HbA, the FSA pattern, the presumptive diagnosis is sickle cell-beta (+) thalassemia. It may not be possible to distinguish FAS and FSA patterns in newborns; thus, DNA-based testing or repeat hemoglobin testing at age three to six months is recommended.
In the future, PCR-based diagnosis from blood spotted onto a filter paper may be used to detect sickle cell genes directly [49].
OLDER CHILDREN AND ADULTS — The purpose of correct diagnosis in this age group is to identify patients who need therapy for sickle cell disease and counseling for the disease or the trait. Despite newborn screening, many patients with sickle cell disease may be undiagnosed, in part due to immigration of young, unscreened patients from other countries [50]. The "sickle cell prep" using metabisulfite or dithionite is no longer in routine clinical use and is of historical interest only.
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).
Therefore, treatment for sickle cell disease aims to relieve symptoms and prevention of complications (Mayo Clinic Staff, 2014). Management of the disease begins with informing parents that have a high risk of conceiving children with the disease about prenatal screening (Schnog et. al., 2004). This allows for comprehensive care of the newborn and preparation (Schnog et. al., 2004). One of the preventative measures include antibiotics such as penicillin before the age of 5 to reduce the risk of infections. Others include getting all the required vaccinations as well as additional ones, regular influenza vaccinations and meningococus vaccination (“How Is Sickle Cell Disease Treated?”, n.d.). Additional measures include screening tests and evaluations such as blood and urine testing, eye examinations, pulmonary hypertension, cognitive screening and Transcranial Doppler (TCD) Ultrasound Screening (which tests whether a child is at risk for stroke) (“How Is Sickle Cell Disease Treated?”, n.d.). As the disease is associated with painful crisis, medication to manage pain is also prescribed to those presenting with the symptoms (“How Is Sickle Cell Disease Treated?”,
What is Sickle cell disease? Sickle cell affects a disease; that disease is called which affects the hemoglobin when the red blood cells that send oxygen through the body are killed off and weakened. Sickle cells can be found in every 1 and 1000 African Americans, it is affecting about 70,000 to 80,000 Americans in the United States. Sickle cell is a death threatening disease, and the severity of symptoms can vary from person to person (Sickle cell disease (SCD), 2015). Some people have light conditions, but others can have severe conditions, which, mean they could be hospitalized. Characteristics of this disease are caused by a minimum of low blood cells, which is called anemia.
SCD has major social and economic implications for the affected child and the families. Recurrent sickle-cell crises interfere with the patient’s life, especially with regard to education, work and psychosocial development (WHO). Sickle cell anemia, specifically, is a serious disease that can require frequent hospital stays. Repeated hospitalization for intravenous pain medication, antibiotic therapy and blood transfusions is undertaken to treat medical problems as about 1 in every 10 children with sickle cell disease. People with SCD may suffer abdominal pain, breathlessness, delayed growth and puberty, fatigue, fever, ulcers, among others. These patients often die early of overwhelming infection or as a consequence of acute or chronic damage to the body organs. Those with sickle cell disorder often suffer neglect and
The name of this patient is Davon; he is a five-year-old African-American male whom just moved from Chicago. The patient was visiting his pediatrician for a physical to enter kindergarten. The patient mother gave her history about confirming that she has the sickle cell trait and would like to know if her son is also a carrier for sickle cell. ("Sickle Cell Disease", 2015) “Sickle cell trait inherited from both hemoglobin A and S, in the red blood cells”. Those with this disease are still capable of having a healthy life. For instance, if one parent has sickle cell trait, and the other parent does not will only lead to the child having sickle cell trait or nothing. If both parents have the trait, then the child will genetically develop sickle cell disease inside the mother’s womb. Sickle cell trait is a transmitted disease that travels through the red blood cells. The symptoms of sickle cell trait is that when the skin gets pale, always cold, or even tired then that is a sign of having this disease. The patient cannot prevent this disease, due to this is something that is passed on from the womb and birth. Daily doses of penicillin can control the infection; on the other hand, it is not preventable. The only way to make sure that it does not get worse is the person must eat foods with high iron and even
The diminished rate of synthesis amongst the globin chains was first described from Cooley and Lee. However, the term “Thalassemia: was coined by Whipple and Bradford in 1936 (Bain, 2006). The term “Thalassemia” is derived from the Greek words “Thalassa” (sea) and “Heama” (blood) and refers to disorders associated with defective synthesis of the alpha or beta globin subunits of the hemoglobin molecule. Hemoglobin A (a2B2) is inherited. ...
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.
“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.
Simmon, Harvey. "Sickle Cell Disease." University of Maryland Medical Center. N.p., 14 Mar. 2013. Web. 06 Feb. 2014.
Sickle cell anemia is an inherited disease in mostly people of Mediterranean, African, or Southeast Asian heritage which occurs when a person inherits the genes for sickle hemoglobin(NHLB). Sickle cell anemia is named from the shape that the red blood cells take because they become a crescent/sickle shape. Normally these red blood cells are flexible and round, but with sickle cell anemia they become rigid and sticky(Mayo Clinic) This shape inhibits the normal functions of red blood cells and they also cause blockages in blood flow to the limbs. The signs and symptoms of the disease vary, ranging from mild symptoms to drastic and hospital inducing health problems. There currently exists no widely available cure for sickle cell anemia, but as time passes and more research is done it is hopeful that there will be a cure.
A three-dimensional structure of hemoglobin is determined by X-ray crystallography showed hemoglobin is made up of four polypeptide chains, each of those chains has a very similar three-dimensional structure to the single polypeptide chain in myoglobin. The major type of hemoglobin found in adults (HbA) is made up of two different polypeptide chains: the alpha-chain that consists of 141 amino acids residues, and the beta-chain of 146 residues. Each chain, like that in myoglobin consist of eight alpha-helices and each contains a heme prosthetic group. Therefore, hemoglobin can bind four molecules of oxygen. The four polypeptide chains, two alpha and teo beta, are packed tightly together in a tetrahedral array to form an overall spherically shaped molecule that is held together by multiple noncovalent interactions.
Red blood cells with normal hemoglobin (HbA) move easily through the bloodstream, delivering oxygen to all of the cells of the body. Normal red blood cells are shaped like doughnuts with the centers partially scooped out and are soft and flexible.
...mia disease patients should regularly have immunizations for all common infection. Patients most importantly should keep their bodies with lots of fluids to prevent dehydration. Vitamins and dieting are also ways to reduce risk factors of the sickle cell disease.
There are lots of genes in each of our body’s. when one is mutated it may causes a chain reaction and in the case with sickle cell that mutated gene may become rigid and sticky and won’t allow your body to make hemoglobin the iron rich compound that gives us the red color in our blood it hemoglobin is abnormal. The red blood cell s that carries oxygen from our lungs and other parts of our body cannot happen. The gene will sickle therefore preventing the blood and oxygen to pass through freely.
Thalassemia is a blood disorder transferred through families. It occurs when the body makes less hemoglobin than needed or an unusual form of hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen. The disorder makes an excessive amount of destruction of red blood cells. This eventually leads to anemia.