Date of Award

2022

Document Type

Capstone

Granting Institution

Lynn University

Degree Name

Master of Science (MS)

Degree Program

Biology

Department

College of Arts and Sciences

Mentor

Dr. Kimberly Rowland

Abstract

Sickle cell anemia, an inherited disorder, causes red blood cells to contort into a disk or sickled shape becoming hard and sticky and obstructing blood flow. As the most common hemoglobinopathy, over 100,000 Americans in the US are affected by sickle cell disease. Sickle cell anemia is an inheritance of the abnormal sickle cell gene genetically transferred from both parents. Sickle cell anemia can be easily diagnosed in DNA through a blood test or genetic screening. With a 1 in 4 chance of inheriting copies of the sickle cell gene from both parents if both biological parents are carriers, the cause of sickle cell anemia is due to a single amino acid mutation due to a nucleotide polymorphism or variation typically due to a protein substitution. Individuals with sickle cell anemia may experience signs and symptoms while they are only a few months old. Common signs or symptoms related to this disease are severe headaches, unexplained numbness, confusion, or dizziness. The pathophysiology of sickle cell anemia or SCA relies on the genetics of endometrial dysfunction, HbS polymerization, sterile inflammation and vaso-occlusion. For inpatient hospital visits, sickle cell disease diagnosis was recorded in about 1.7% of whites, 3.9% of Hispanics and 87.5% of blacks (Fingar et al., 2019). Sickle cell anemia life expectancy is two decades shorter in adults compared to children and young adults. Several complications may arise with those infected by SCA, such areas include gallstones, kidney disease, splenic sequestration and may even cause blindness. There are a few management strategies from vitamin intake to bone marrow or stem cell transplant to subdue pain and complications of sickle cell anemia. Sickle cell anemia is a costly, long term health condition that commonly affects minorities. The low income community makes up approximately 92.5% of inpatient hospital visits for patients diagnosed with SCA. Because sickle cell anemia is a lifelong disease, complications that affect the nervous system of those with SCA may progress with age further exacerbating any symptoms associated with this disease. Sickle cell anemia has been known to lead to a decrease in cognitive attainment, strokes, and even neurological issues such as neuropathy that can result in paralysis. These reported neuropathies occurring in patients with sickle cell disease; are specific neuropathies like peripheral neuropathy, mental & mandibular nerve neuropathy and mononeuropathy multiple. Studies on cognitive activity provide evidence that individuals with SCA experience cognitive deficits in the absence of any injury to the central nervous system. IQ levels of patients with SCA were reported to be between 4-7 scaled points lower than that of those without the disease. Complications of sickle cell anemia can be fatal.

Comments

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