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Sickle Cell Diagnostic Analysis

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Sickle cell anemia (SCA), an autosomal recessive disease, affects about 250,000 people globally every year. 1 Diagnostic tests are fairly simple because the molecular basis of the disease is noncomplex; the disease is caused by a single amino acid substitution. This substitution changes the conformation of hemoglobin resulting in a “sickled” product. This sickled product is “stickier” than the normal red blood cell creating the diseased state. Currently, treatment options are mostly limited to improving symptoms, but there are potential treatments under study that could help at the molecular basis of the disease.

SCA is the main form of sickle cell disease (SCD). 2 SCA is an autosomal recessive disease caused by a mutation in the hemoglobin …show more content…

2 Diagnosis could occur through several different techniques. The most common technique used is isoelectric focusing (IEF) followed by cellulose acetate electrophoresis, high-performance liquid chromatography (HPLC), and DNA analysis. 1, 2, 3 HPLC and gel electrophoresis can differentiate carriers from diseased-patients. 2 HPLC separates proteins and allows for accurate quantification even at low concentrations. 2 IEF produces high resolution high-throughput screening. 2 One drawback is IEF is not as quantitative as HPLC. 2 IEF is commonly used in the newborn screening. 2 Cellulose acetate electrophoresis is quicker than many techniques but also inaccurate when it comes to differentials. 2 DNA analysis will detect the mutations of the gene variants. 2 There is also targeted mutation analysis that analyzes for the specific mutation. (For example, the glutamic acid to valine substitution at amino acid residue 6, and the glutamic acid to lysine substitution at the same amino acid that is indicative of HbC). 2 Complete blood count (CBC) can be used as a diagnostic tool. 1, 2 A peripheral blood smear detects sickled red blood cells, increased neutrophil ad platelet counts, and the presence of Howell-Jolly bodies indicates hyposplenism. 2 Other tests that could be used include: Kleihauer-Betke test and solubility tests (such as Sickledex). …show more content…

Hydroxyurea works to increase levels of HbF. This competes with the HbS and should result in decreased HbS red blood cells and increased RBC survival. 2, 4 Hydoxyurea has other effects as well that may aid in alleviating symptoms. These include metabolism into nitric oxide (a vasodilator), reduction of vascular inflammation, lower white blood cell count, and lowering platelet count. 2, 4 More research needs to be done, however, there is evidence that hydroxyurea reduces acute painful episodes, acute chest syndrome episodes, decreased need for transfusion, and improved survival. 2 Although, there are risks to hydroxyurea treatment as well. Myelosuppression needs to be closely monitored because decreased white blood cell count is a mechanism of the drug. 2 This risk needs to be weight with the potential benefit before the patient begins hydroxyurea

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