Thesis Abstract

Abstract
Sickle cell disease is a genetic disorder characterized by the presence of abnormal hemoglobin that causes red blood cells to become sickle-shaped, leading to various complications. One common complication in sickle cell patients is electrolyte imbalance, particularly involving sodium levels in the blood. This study aimed to investigate the serum sodium concentration in sickle cell patients and its association with disease severity and clinical outcomes. A comprehensive literature review was conducted to gather information on the relationship between sickle cell disease and serum sodium levels. The review highlighted that alterations in sodium concentration can occur in sickle cell patients due to multiple factors, including dehydration, kidney dysfunction, and medication use. These fluctuations in sodium levels can influence the clinical course of the disease and impact patient outcomes. Additionally, a cross-sectional study was performed on a cohort of sickle cell patients to analyze their serum sodium levels and correlate them with disease severity markers. The results indicated that sickle cell patients often present with lower serum sodium levels compared to the general population. Furthermore, lower sodium levels were associated with increased disease severity, higher rates of vaso-occlusive crises, and hospital admissions. The findings suggest that monitoring serum sodium concentration in sickle cell patients could serve as a valuable indicator of disease progression and help in predicting clinical outcomes. Maintaining optimal sodium levels through appropriate hydration and dietary management may also play a role in improving patient outcomes and reducing the frequency of complications. In conclusion, serum sodium concentration is a crucial parameter to consider in the management of sickle cell disease. Regular monitoring of sodium levels can provide valuable insights into the patient's condition and aid healthcare providers in making informed decisions regarding treatment strategies. Further research is warranted to explore the underlying mechanisms of sodium imbalance in sickle cell disease and evaluate the effectiveness of sodium-targeted interventions in improving patient outcomes. By addressing electrolyte imbalances, particularly sodium dysregulation, healthcare professionals can potentially enhance the quality of care for sickle cell patients and mitigate the burden of this complex genetic disorder.

Thesis Overview

INTRODUCTION

Sickle cell disease (SCD) is a group of inherited disorders of the beta-hemoglobin chain. Normal hemoglobin has 3 different types of hemoglobin – hemoglobin A, A2, and F. Hemoglobin S in sickle cell disease contains an abnormal beta globin chain encoded by a substitution of valine for glutamic acid on chromosome 11 (Bunn,2007). This is an autosomal recessive disorder. Sickle cell disease refers to a specific genotype in which a person inherits one copy of the HbS gene and another gene coding for a qualitatively or quantitatively abnormal beta globin chain. Sickle cell anemia (HbSS) refers to patients who are homozygous for the HbS gene, while heterozygous forms may pair HbS with genes coding for other types of abnormal hemoglobin such as hemoglobin C, an autosomal recessive mutation which substitutes lysine for glutamic acid. In addition, persons can inherit a combination of HbS and β-thalassemia. The β-thalassemias represent an autosomal recessive disorder with reduced production or absence of β-globin chains resulting in anemia. Other genotype pairs include HbSD, HbSO-Arab and HbSE (Meremiku, 2008).

Sickle hemoglobin in these disorders cause affected red blood cells to polymerize under conditions of low oxygen tension resulting in the characteristic sickle shape. Normal red cells live about 120 days in the blood stream but sickled red cells die after about 10 – 20 days. Because they cannot be replaced fast enough, the blood is chronically short of red blood cells, a condition called anaemia. Aggregation of  sickle cells in the microcirculation from inflammation, endothelial abnormalities, and  thrombophilia lead to ischemia in end organs and tissues distal to the blockage (Hayes, 2004).