Comparative Study of Electrolyte Patterns in Sickle Cell Disease Patients
Chapter One
Objectives of the study
The main objective of the study is to carry out a comparison of electrolyte patterns in sickle cell disease patients.
Specifically, the study sought:
(1) To determine the level of the sodium, potassium, bicarbonate and chloride electrolyte in patients with sickle cell disease.
(2) To compare the sodium, potassium, bicarbonate and chloride electrolyte level of patients with sickle cell disease with those of normal individuals.
CHAPTER TWO
LITERATURE REVIEW
Overview of Sickle Cell Diseases
The term sickle cell disease (SCD) is a sickle haemoglobinopathy used in a generic sense to refer to all the clinically severe sickling syndromes (Lane, 1996). Sickle haemoglobinopathies are genetically determined conditions characterized by structurally abnormal haemoglobin variants which give rise to haemolytic diseases by virtue of their property to polymerize and assume the sickle or crescent shape. It applies to all individuals with at least a single HbS chain and one other abnormal β globin chain (Lonergan et al., 2001).
The different forms of SCD are determined by the genes inherited from the person’s parents. Someone who inherits a sickle cell gene (HbS) from each parent has haemoglobin SS (HbSS) disease, also called sickle cell anaemia (SCA). A person can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of SCD, such as haemoglobin SC disease or haemoglobin S beta thalassemia. Someone who inherits only one sickle cell gene and a normal gene from the other parent is said to have the sickle cell trait, but not the disease (Miller et al., 2009). SCA is inherited as an autosomal recessive condition whereas sickle cell trait is inherited as an autosomal dominant trait (Serjeant and Serjeant 2001).
Sickling of red blood cells is promoted by conditions which are associated with low oxygen levels, increased acidity, and dehydration of the blood (Yale et al., 2015). These conditions can occur as a result of injury to the body’s tissues, dehydrating states, or anaesthesia. In addition, certain organs are predisposed to lower oxygen levels or acidity, such as when blood moves slowly through the spleen, liver, or kidney. The major features of SCDs include: fatigue, anaemia, pain crises, dactylitis, bacterial infections, progressive damage of organs and tissues, and impaired growth and development usually an end result of the physical and emotional trauma associated with the disease (Yale et al., 2015). The life expectancy of persons with SCA is considered less than the general population; nevertheless, with optimal management, patients now survive beyond the fourth decade (SCAC, 2016).
History
Sickle cell disease (SCD) was first described by Herrick in 1910, in a dental student who presented with pulmonary symptoms (Herrick, 1910). Herrick coined the term “sickle-shaped” to describe the peculiar appearance of the red blood cells (RBCs) of this patient. However, given the patient’s symptoms, he was not sure at the time whether the blood condition was a disease sui generis or a manifestation of another disease (Frenette and George 2017). Centuries before this, the people of West Africa knew the disease syndrome, had specific tribal names for it; and also knew that the disease was hereditary (Konotey-Ahulu, 2011). In the next 15 years following Herrick’s discovery, several similar cases were described, supporting the idea that this was a new disease entity and providing enough evidence for a preliminary clinical and pathological description (Frenette and George, 2017). Shortly thereafter, in 1927 suggested that anoxia caused RBC sickling by demonstrating that shape changes could be induced by saturating a RBC suspension with carbon dioxide (Hahn and Gillespie, 1927 in Frenette and George, 2017). Scriver and Waugh (1930) proved this concept in vivo by inducing venous stasis in a finger using a rubber band; by showing that stasis-induced hypoxia dramatically increased the proportion of sickle-shaped cells from approximately 15% to more than 95% (Frenette and George, 2017). These studies were noted by Linus Pauling, who was the first to hypothesize in 1945 that the disease might originate from an abnormality in the haemoglobin molecule (Pauling et al., 1949). Around the same time, Watson showed that the abnormal response of RBCs in SCA resulted from a primary haemoglobin (Hb) abnormality. He observed that formation of sicklelike spicules on deoxygenation of RBCs from sickle cell infants was absent or minimal until foetal haemoglobin (HbF) was replaced by adult haemoglobin (HbA), at about 3–6 months of age (Watson et al. 1948); thus, predicting the importance of foetal haemoglobin (HbF). However, Pauling’s hypothesis was not validated until 1949, when by applying moving boundary electrophoresis to haemolysates from individuals with genotypes HbAA, HbAS, and HbSS; he showed that nearly all the haemoglobin in the RBCs of HbSS had a mobility different from that of HbAA, and that HbAS carriers had both types of haemoglobin in their RBCs (about 40% of abnormal HbS and 60% of normal HbA). This crucial experiment identified a molecular disease and explained its patterns of inheritance (Lew and Bookchin 2015). Ingram and colleagues (1959) demonstrated shortly thereafter, in one of the first applications of twodimensional peptide mapping that the precise molecular difference between mutant sickle haemoglobin (HbS) and normal haemoglobin (HbA) was a single amino acid substitution of valine for glutamic acid in position 6 on the β-chain of HbA (Lew and Bookchin 2015). This was followed by studies that analyzed the structure and physical properties of HbS, which formed intracellular polymers upon deoxygenation (Frenette and George 2017).
Epidemiology of sickle cell disease
The highest frequency of SCD is found in tropical regions, particularly sub-Saharan Africa, India and the Middle-East (Weatherall and Clegg 2001). However, migration of substantial populations from these high prevalence areas to low prevalence countries in Europe has dramatically increased (Roberts and De Montalembert 2017).
The symptoms related to sickle cell crises were known by various names in Africa, long before they were recognized in the western hemisphere. Symptoms of SCA could be tracked back to year 1670 (Serjeant and Serjeant 2001). The disease had probably been recognised for generations in West Africa, where the chronic recurrent condition was given onomatopoeic names implying ‘cold season rheumatism’. Thus in Ghana, the Ga tribe referred to it as “Chwecheechwe”, the Twi as “Ahututuo”, the Ewe as “Nuidudui”, and the Fante as “Nwiiwii” (Serjeant and Serjeant 2001). In Nigeria, various expressions have been used to describe SCD for many years (Ejiofor, 2018). The descriptions or names are linked to vital phenomena; for example; shortened lifespan [Yoruba terminologies which imply this include-“durojaye”, “durosinmi” and “abiku” , while the Hausa terminologies include “barmani”, “ajuji” (dustbin), and “ayashe” (meant to be dug out), the Ibo’s refer to it as “ogbanje” (recurrent death), and the tiv as “vende wanye”], anaemia [Hausa refer to it as “rashin jinni”or “fara”], and for phenomena related to pain/bone pain [the Yoruba refer to it as “lagunlagun”, “lagunregbee”, or “aromolegun”, the Hausa refer to it as “amosanin”, the Ibo’s refer to it as “aju oyi”, and the Fulani’s refer to it as “budi”] (Konotey-Ahulu, 2011).
CHAPTER THREE
MATERIALS METHODS
Research design
This cross sectional observational study was conducted in Biochemistry Department, Imo state University, in collaboration with super-speciality ward under medicine department of, Imo state teaching hospital in between April 2019 to September 2019.
Population and Sampling
The study include three groups, one group on hydroxyurea therapy and other group which never had exposure to hydroxyurea therapy, third group with healthy controls. The study patients are selected randomly. Detailed information regarding the patients is taken by administering a semi-structured questionnaire and examination of the patients and the blood sample is taken after taking verbal and written consent from the patients.
Inclusion Criteria
Samples collected from patients attending the super speciality ward under General Medicine department Imo state teaching hospital, who are diagnosed as sickle cell anaemia.
CHAPTER FOUR
RESULTS AND DISCUSSION
Results
50 individuals are selected randomly for the study. Mean age of SCD patients was 16.21+/-9.80 and healthy controls was 23.05+/-5.18. Out of which thirty sickle cell disease patients.
CHAPTER FIVE
CONCLUSION AND RECOMMENDATIONS
Conclusion
This study was carried out on the comparative study of electrolyte patterns in sickle cell disease patients. Serum electrolytes play a vital role in the patho – physiology of sickle cell disease and their complications. Dehydration induces sickling. From the current study, it was evident that the serum levels of most of the electrolytes vary significantly between sickle cell disease patients and controls but among the sickle cell patients with hydroxyurea and without hydroxyurea here is no statistical significance found.
Limitations
The sample size of the study was small, hence cannot be projected on whole population. Follow up cases can give better insights into the serum electrolytes values and other variables in this study.
Recommendations
Barriers to care and to compliance with treatment of sickle cell disease should be studied, including economic factors such as cost of care and insurance coverage.
Patient education on importance of compliance with drug management strategies, availability, and accessibility to medication should be improved.
The positive impact of alleviating micronutrient malnutrition on physical activity, education and productivity, and hence on national economies suggests that there is also an urgent need for increased effort to demonstrate the cost of these deficiencies, as well as the benefits of addressing them, especially compared with other health and nutrition interventions.
Assessment of quality of life (QOL) is necessary to fully understand the needs of adults and children with sickle cell disease; and health care professionals should be able to use effective measures to evaluate QOL in the management of sickle cell disease.
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