Sickle cell anemia is an inherited disease in which the red blood cells have a deformed shape, which reduces their effectiveness to transport oxygen to the different parts of the body. Sickle cell anemia is predominantly present in people whose ancestors come from Africa. It is also common in people with Mediterranean, Middle Eastern and Indian Ancestry.
The clinical diagnosis for sickle cell anemia is usually only evident in the patients who are heterozygous for the Hemoglobin S allele. The signs and symptoms that are suggestive of sickle cell anemia include acute fever, relative hypertension, jaundice, ulcers, increase in respirations in acute chest syndromes, cough and hyperactive precordium. The patients may also experience joint pains …show more content…
The common tests performed include, Peripheral Blood smear, complete blood count, isoelectric focusing, Hemoglobin electrophoresis, HPLC fractionation and DNA analysis or prenatal screening. Chest X-rays for acute chest syndrome and urinalysis to assess the protein found in the urine are also additional test that may be used to support the results. The DNA analysis or prenatal screening uses PCR technique to identify the presence of hemoglobin S. This achieved by analyzing the DNA pattern of chorionic villus sample at 8 to 10 weeks gestation and amniotic fluid 14 to 16 weeks. The peripheral blood smears ad complete blood counts are the fastest way to test adults and children because they give information about the number and shape of the blood cells. The presence of abnormally shaped red blood cell observed through a microscope or automated machine is an indication of sickle cell anemia. Hemoglobin electrophoresis, isoelectric focusing and HPLC fractionation all detect the presence of Hemoglobin S in the blood HPLC is more accurate in quantifying the presence of normal and variant hemoglobin at low concentrations, which enables the identification of the different types of sickle cell anemia. Isoelectric focusing is less quantitative than HPLC but provides higher resolutions than hemoglobin …show more content…
There are several studies that are ongoing to identify in transfusion therapy helps decrease the development of silent cerebral infarcts in children who have previous has an overt stroke. Another popular topic of interest in relation to sickle cell anemia treatment options is the role of Nitric Oxide in the body. Sickle cell anemia reduces the bioavailability of nitric oxide, which regulates many of the injuries associated with it. Most of the research is focused on finding a way to increase nitric oxide level in the body that results in a long-term positive outcome. Gene therapy is also a potential source of treatment for sickle cell anemia. Some strategies include gene correction, adding normal beta-like genes, using trans-activators to increase the expression of the fetal or embryonic gene and inducing embryonic alpha-like chains, which form tetramers that are less likely to polarize. Gene therapy using induced pleuripotent stem cells is also a promising new approach to treat sickle cell anemia.
In conclusion, Sickle cell anemia is a genetic disease caused by a mutation in the beta chain of the hemoglobin. The average lifespan for those with the disease has increased from 14 years to 50 years. Patients with the disease are encouraged to receive all their immunizations on time, develop health care management strategies
The clinical diagnosis for sickle cell anemia is usually only evident in the patients who are heterozygous for the Hemoglobin S allele. The signs and symptoms that are suggestive of sickle cell anemia include acute fever, relative hypertension, jaundice, ulcers, increase in respirations in acute chest syndromes, cough and hyperactive precordium. The patients may also experience joint pains …show more content…
The common tests performed include, Peripheral Blood smear, complete blood count, isoelectric focusing, Hemoglobin electrophoresis, HPLC fractionation and DNA analysis or prenatal screening. Chest X-rays for acute chest syndrome and urinalysis to assess the protein found in the urine are also additional test that may be used to support the results. The DNA analysis or prenatal screening uses PCR technique to identify the presence of hemoglobin S. This achieved by analyzing the DNA pattern of chorionic villus sample at 8 to 10 weeks gestation and amniotic fluid 14 to 16 weeks. The peripheral blood smears ad complete blood counts are the fastest way to test adults and children because they give information about the number and shape of the blood cells. The presence of abnormally shaped red blood cell observed through a microscope or automated machine is an indication of sickle cell anemia. Hemoglobin electrophoresis, isoelectric focusing and HPLC fractionation all detect the presence of Hemoglobin S in the blood HPLC is more accurate in quantifying the presence of normal and variant hemoglobin at low concentrations, which enables the identification of the different types of sickle cell anemia. Isoelectric focusing is less quantitative than HPLC but provides higher resolutions than hemoglobin …show more content…
There are several studies that are ongoing to identify in transfusion therapy helps decrease the development of silent cerebral infarcts in children who have previous has an overt stroke. Another popular topic of interest in relation to sickle cell anemia treatment options is the role of Nitric Oxide in the body. Sickle cell anemia reduces the bioavailability of nitric oxide, which regulates many of the injuries associated with it. Most of the research is focused on finding a way to increase nitric oxide level in the body that results in a long-term positive outcome. Gene therapy is also a potential source of treatment for sickle cell anemia. Some strategies include gene correction, adding normal beta-like genes, using trans-activators to increase the expression of the fetal or embryonic gene and inducing embryonic alpha-like chains, which form tetramers that are less likely to polarize. Gene therapy using induced pleuripotent stem cells is also a promising new approach to treat sickle cell anemia.
In conclusion, Sickle cell anemia is a genetic disease caused by a mutation in the beta chain of the hemoglobin. The average lifespan for those with the disease has increased from 14 years to 50 years. Patients with the disease are encouraged to receive all their immunizations on time, develop health care management strategies