Sickle Cell Anemia Case Study

reap hook Cell Anemia Case basevassA 20-year-old Africa- America woman visits her physical complaining of episodes of utmost(prenominal) inconvenience unrivalledself and discomfort in her legs and lower back. She has been experiencing these re up-to-the-minute episodes, accompanied by extreme fatigue, since she was a child. On physical interrogationination, she appears jaundiced and has a hematocrit of 23% and a haemoglobin level of 7g/dL. She reports she has family members who experienced the same symptom.reap hook cadrephone anemia ( sickle boothular telephone ailment) is a disorder of the origination caused by an agenttic ab convening hemoglobin (an oxygen-carrying protein within the red communication channel cellphonephones). The perverted hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells be touchy and prone to rupture. When the keep down of red blood cells flows from rupture (hemolysis), anemia is the result. This modera te is referred to as sickle cell anemia. The irregular sickled cells can also block up blood vessels causing tissue and organ damage and anguish.Sickle cell anemia is one of the most common inherited blood anemias. The disease primarily affects Africans and African Americans. It is estimated that in the unify States, some 50,000 African Americans are afflicted with the most severe form of sickle cell anemia. Overall, current estimates are that one in 1,875 U.S. African American is abnormal with sickle cell anemia. Sickle cell anemia is caused by a lay mutation in the -globin chain of haemoglobin, causing the hydrophilic amino cutting glutamic acid to be replaced with the hydrophobic amino acid valine at the ordinal point. The -globin constituent is found on the short arm of chromosome 11. The association of deuce wild-type -globin subunits with 2 mutant -globin subunits forms haemoglobin S (HbS). Under low-oxygen conditions (being at steep altitude, for example), the abse nce of a polar amino acid at position six of the -globin chain promotes the non-covalent polymerisation (aggregation) of haemoglobin, which distorts red blood cells into a sickle shape and decreases their elasticity.The loss of red blood cell elasticity is rally to the pathophysiology of sickle-cell disease. Normal red blood cells are quite elastic, which allows the cells to deform to passing by dint of capillaries. In sickle-cell disease, low-oxygen tension promotes red blood cell sickling and perennial episodes of sickling damage the cell membrane and decrease the cells elasticity. These cells fail to return to normal shape when normal oxygen tension is restored. As a consequence, these steady blood cells are unable to deform as they pass finished narrow capillaries, leading to vessel occlusion and ischaemia.The actual anaemia of the infirmity is caused by haemolysis, the destruction of the red cells inside the spleen, because of their misshape. Although the swot marrow at tempts to get by creating new red cells, it does not match the rate of destruction.17 heavy red blood cells typically live 90-120 days, but sickle cells only when survive 10-20 days.18Normally, humans have hemoglobin A, which consists of two alpha and two important chains, haemoglobin A2, which consists of two alpha and two delta chains and Haemoglobin F, consisting of two alpha and two gamma chains in their bodies. Of these, Haemoglobin A makes up around 96-97% of the normal haemoglobin in humans.In normal Haemoglobin A, glutamic acid is on the 6th position of the beta chain, while in sickle-cell disease, this glutamic acid is replaced by valine leading to the formation of sickle cells. This happens imputable to a one point mutation. This leads to polymerization of the two beta chains and therefore their appearance as puzzle pieces (or lock and key) which manner they fit into each opposite forming a longitudinal polymer that would lead to the cell becoming deformed and very rigid leading to vessel occlusion. This make for of polymerization can be activated by infections, hypoxia, acidosis, physical exercise, vasoocclusion due to cold as well as hypertonic dehydration.DiagnosisSickle cell anemia is diagnosed through blood rivulet, testing for hemoglobin S (the defective form of hemoglobin descriptive of the disease), the presence of former(a) abnormal hemoglobin variants, evaluating status and number of erythrocytes, and/or determination of one of more than altered hemoglobin gene copies. In the United States, this blood test is part of routine screening for newborns make in the hospital. However, older children and adults can be tested also. In adults, the blood sample is extracted from a stain in the arm. In young children and babies, blood is taken from a fingers breadth or heel. The testing itself is typically performed on a smear of blood utilizing a special low-oxygen homeworkaration, known as sickle prep. Other prep tests can be utilized, including but not limited to solubility tests. 4,6 other screening testing is the Hb S solubility test. In this role, a chemical is added to the blood sample which reduces the amount of its oxygen carrying capacity. In individuals carrying level off one sickle gene, some hemoglobin S pull up stakes be present. The reduced amount of oxygen will cause S-related polymers to form and affected erythrocytes will sickle. This test, in essence, detects for the presence of Hb S alone. However, this exam should not be performed on infants until age six months, as babies with sickle cell will not produce significant amounts of Hb S until several(prenominal) months after birth. 6To confirm the diagnosis, DNA analysis can be utilized. This exam is used to detect alterations and mutations in the genes producing hemoglobin components. DNA analysis reveals one copy or two copies of the hemoglobin S gene, or copies of distinguishable hemoglobin variants. DNA analysis can be performed on the evo lution fetus in fourteen to sixteen weeks gestations via amniocentesis or through chorionic villus sampling.6TreatmentTreatment of sickle cell anemia is done by blocking the red blood cells from stacking together.the health professional charge helps the patients to begin with early diagnosis of the disorder, preferably during the newborn period. Penicillin prophylaxis, vaccination against pneumococcus bacteria, and folic acid supplementation is standard. 2Treatment of sickle cell complications includes ,vitamin supplementation, intravenous fluids, blood transfusion, appurtenant oxygen, surgery (splenectomy) and psychosocial support. Management is best accomplished via multidisciplinary program of care. 2,3,5 lineage transfusions benefit by reducing recurring pain crises, risk of stroke, and other complications. Blood transfusions increase the amount of normocytic erythrocytes in circulation, helping relieve the weak state. However, since erythrocytes contain conjure and the body does not possess a essential process for its elimination, patients can accumulate iron in the blood. Thus, possible iron toxicity mustiness be closely screened and methods to remove excess must be executed. Excess iron is removed artificially through constitution of the drug Deferasirox (Exjade ) orally in patients two years of age and older. If this is not checked, the excessive iron can accumulate in the heart, liver, and various other organs causing organ damage. 3Other treatments for this disease include determination a substance that prevents erythrocytes from sickling without producing deleterious effects to other body areas. The music hydroxyurea has been found to reduce the frequency and severity of pain, acute chest syndrome, and decrease the need for blood transfusions in adult patients. Droxia (prescription name brand readiness of hydroxyurea) was approved by the Food and Drug Administration in 1998 and is currently available for adult patients. Studies are curre ntly being conducted to determine the meet dosage in pediatric patients. However, there is concern in this medical specialty that chronic usage whitethorn facilitate tumor growth or leukemia in certain individuals. 5Other pharmacological therapies include antibiotics and pain relievers. Regarding antibiotics and aforementioned(prenominal) earlier, children benefit from penicillin at age two months and usually continue medication until age five. Prophylactic antibiotic treatment helps in preventing pneumonia. For adults, prophylactic antibiotic treatment can aide in fighting certain infections that they would ordinarily fight provided they had normal erythrocytes. 2,3,5Non-pharmacotherapy treatments are bone marrow transplant and accessory oxygen therapy. Bone marrow transplant procedure offers the only capableness cure for sickle cell anemia. Replacing the system with unaffected bone marrow aids the body in producing normocytic erythrocytes. However, finding a donor provides difficult even with the advent of registries. Also, the extraction of bone marrow possesses serious-minded risk, including death. After the procedure, a mandatory lengthy hospital stay is required. In the hospital and upon leaving, the patient will be administered medications to help prevent rejection of the donated marrow. The procedure is currently only used for those possessing serious symptoms and problems with sickle cell anemia. Regarding supplemental oxygen therapy, this proves beneficial by forcefully increasing oxygen satiate in the blood via oxygen mask. Supplemental oxygen can be helpful in acute chest syndrome or sickle cell crisis.2,3,5Surgical treatment involve splenectomy to remove a possible disgraced spleen from the sickle cells or eye surgery for vision problems associated with sickled cell damage.New sickle cell treatments on the horizon include gene therapy, the pharmacological treatments of butyric acid, clotrimazole, nitric oxide, and nicosan. 3Since sickle cell anemia is caused by a defective gene, researchers speculate that insertion of a normal gene into bone marrow of people with sickle cell anemia will result in the production of normal hemoglobin. Another gene therapy possibleness is turning off the defective gene, while reactivating another gene responsible for production of fetal hemoglobin (a type of hemoglobin found in newborns) that prevent sickle cells from forming. 3Butyric acid, normally utilized as a food additive, may increase the amount of fetal hemoglobin in the blood in some patients. 3Clotrimazole, the over-the-counter antifungal medication may help prevent loss of water from erythrocytes, possibly reducing the number of sickle cells formed. 3Nitric oxide is decreased in sickle cell anemia, a gas that normal causing vasodilatation. Administration of this agent would prevent the viscid of sickled cells to one another.3Nicosan, an herbal treatment in early trials in the United States, is currently being used to pr event sickle crisis in Nigeria (West Africa). 3 quality sectionSickle Cell Anemia Treatments and Drugs mayoClinic.com. Sickle Cell Anemia. Mayo Clinic, 1 Apr. 2009. Web. 13 July 2010.http//www.mayoclinic.com/health/sickle-cell-anemia/DS00324/DSECTION=treatments-and-drugsSmith WR, Penberthy LT, Bovbjerg VE, et al. (Jan 2008). Daily assessment of pain in adults with sickle cell disease. Ann. Intern. Med. 148 (2) 94-101. ISSN0003-4819. PMID1819533Sickle Cell Tests. American draw for Clinical Chemistry (2006). Lab Tests Online. American Association for Clinical Chemistry, 20 Aug. 2006. Web. 13 July 2010. The case study was taken from first aid usmile step1What Is Sickle Cell unhealthiness. About Sickle Cell Disease. Sickle Cell Disease Association of America SCDAA Home, 2005. Web. 13 July 2010. http//www.sicklecelldisease.org/about_scd/