KNOWLEDGE, ATTITUDE AND PRACTICE OF PREMARITAL GENETIC COUNSELLING ON SICKLE CELL ANEMIA AMONG UNDERGRADUATE STUDENT IN KADUNA STATE UNIVERSITY

.              TABLE OF CONTENTS

1.1    Background of the Study     

1.2    Statement of the Problem     

1.3    Research Questions     

1.4    Objectives of the Study     

1.5    Significance of the Study     

1.6    Scope and Limitations of the Study 

1.7    Definition of Key Terms    

CHAPTER TWO: LITERATURE REVIEW AND THEORETICAL

2.1    Introduction     

2.2    Knowledge on Premarital Genetic Screening for Sickle Cell Anaemia Disease  

2.3    Attitude towards Premarital Genetic Screening for Sickle Cell Anaemia Disease   

2.4    Practice of Premarital Genetic Screening for Sickle Cell Anaemia Disease    

2.5    Theoretical Framework     

CHAPTER THREE: METHODOLOGY

3.1    Location of the Study     

3.2    Sources of Data Collection     

3.3    Population of Study and Sampling Technique     

3.4    Methods of Data Collection     

3.5    Methods of Data Analysis     

3.6    Problems Encountered in the Field     

CHAPTER FOUR: DATA ANALYSIS AND INTERPRETATION

4.1    Introduction     

4.2    Socio-Demographic Characteristics of Respondents    

4.3    Knowledge of Prenatal Genetic Screening for Sickle Cell Anaemia Disease   

4.4    Attitude towards Premarital Genetic Screening for Sickle Cell Anaemia Disease  

4.5    Practice of Premarital Genetic Screening for Sickle Cell Anaemia Disease    

4.6    Discussion of Major findings     

CHAPTER FIVE: SUMMARY, CONCLUSION AND RECOMMENDATION

5.1    Summary of Findings    

5.2    Conclusion     

5.3    Recommendations     

    References    

    Appendices     

CHAPTER ONE

INTRODUCTION

1.1 Background of the Study

Genetic counseling is part of the domain of health, providing citizens with personalized help regarding their own and their family’s genetic health. It help lay people understand complex genetic information, and thus make more informed personal decisions (NSGC, 2014). Premarital screening for the identification of carriers of the sickle cell gene, and genetic counseling, especially for at –risk couples with the gene is considered one of the best ways of preventing the sickle cell disease in the newborn (WHO, 2006). The premarital screening involves the use of a low-cost laboratory test that detects the sickle cell haemoglobin; while the genetic counseling is primarily the educational and non-directive counseling of the at-risk couple on the consequences of their genotype, the probability of having babies with sickle cell disease, and the ways they can prevent or reduce the risk, using informed decisions that are consistent with their own values (Abdel-Meguid, Zaki & Hammad, 2000).

Sickle cell disease is an inherited blood disorder caused by abnormal hemoglobin (Creary, Williamson, & Kulkarni, 2007). The disease limits the oxygenating role of hemoglobin, resulting in the damaging or the “sickling” of the red blood cells (Barakat et al, 2008). In 1910, Dr. James Herrick, a Chicago physician, was the first American to formally report and identify elongated, sickle-shaped hemoglobin in an anemic Grenadian student’s blood smear. Herrick coined the now familiar term “sickle cell” (Ogamdi. 1994). For many generation sickle cell disease has been a prevalent disorder in Africa. Reports show that sickle cell disease was a well-known disorder in west Africa and that the west African natives had several local names for this disease before it was discovered in America (Reid & Rodgers, 2007). It is one of the most common hereditary disease occurring worldwide, which may affect any organ or system of human body. It is an irreversible, manageable health problem predominantly seen amongst various tribes, worldwide. It affects millions of people throughout the world, and it is found to be the most common blood disorder among families whose ancestors came from Sub-Saharan Africa, South America, Cuba, Central America, Saudi Arabia, India, and the Mediterranean regions (Creay, Williamson, & Kulkarni, 2007, WHO, 2006).

There is a global concern for the impact of haemoglobin disorders, mainly sickle cell disease on morbidity and mortality rates particularly in developing countries (WHO, 2008). 

In Africa three forms of sickle cell haemoglobin C (Hb-SC) and sickle cell thalasaemia (Hb-Sthal). The major form of sickle cell disease is HbS (Sickle Cell Anaemia) which is as a result of the inheritance of mutant haemoglobin genes from parents (Lawson, 2012). According to World Health Organization approximately 240 million people are carriers of genetic disease (Annie, Egunjobi & Akinyanju, 2010). It is estimated that each year over 300,000 babies are born worldwide manifesting severe forms of sickle cell disease mostly in low and middle income countries, with the majority of these births in developing countries like Nigeria (WHO, 2006). Sickle cell disease contributes to the equivalent of 5% of under-five deaths on the African continent, more than 9% of such deaths in West Africa and up to 16% of under-five deaths in individual West Africa countries (WHO,2005).

It is one of the commonest genetic disorders in nigeria, about 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. This means that in Nigeria alone, about 150,000 children are born annually with sickle-cell anaemia disease, making deaths from sickle cell disease complications occur mostly in children under-five years, adolescent and pregnant women (Weatherall 2011; WHO, 2006). Nigeria is the world’s number one sickle-cell anaemia disease endemic nation (Anie, Egunjobi  & Akinyanju, 2010) Nigeria was one of the three countries (Nigeria, India, and the Democratic Republic of the Congo  (DRC) that contributed 57% of the global total of newborns with sickle cell anaemia, but whereas the contribution of the two other countries have been projected to decrease by 2050, the contributions of  Nigeria to the global total has been projected to increase from the present 30% to 35% by 2050. This calls for the urgent introduction of premarital screening programmes, and other preventive programmes in Nigeria, to for stale the projected increase (Piel et al, 2013).

The disease is a lifelong cause of severe morbidity that often require prolonged hospital admission; and responsible for deformities like the characteristic sickle cell facie; and the disabilities the arise from sickle cell crises, chronic anemia, vaso-occlusive pain episodes, ischemic organ damage, infections, small stature, delayed puberty and the foot ulcers and infections that characterize the disease (Powars et al, 2005; 2008; Adegoke, Adeodu & Adekile 2015). More than half of the newborn with the S gene die in their first years of life; those that survive have an average life expectancy that is significantly less than the normal population, with reported excess mortality reaching up to 92% (Platt et al, 1994; Grosse et al, 2011).

Methods of preventing genetic diseases include pre-marital screening and genetic counseling, prenatal diagnosis, preconception diagnosis, implantation of normal embryos after in-vitro-fertilization and in-utero therapy using stem cell transplantation. However, prevention of the disease through carries identification and genetic counseling remains the only realistic approach to reducing the impact of the disease and allow better use of available resources in the low income countries where the condition is most prevalent (WHO, 2006). Premarital screening of sickle cell disease not only provides information about the health and well being of the individual, it is also important in assessing their health related reproductive risk. It helps people concerned to make important and major life decisions that will benefit family members either now or in the future (Memish & Saeedi, 2011; State, 2013).

Tertiary institutions in nigeria usually comprise mainly of youths who are unmarried and intend to get married and procreate in future. These groups of persons are the target population who will benefit from appropriate interventions aimed at preventing and/or controlling sickle cell disease. Thus, there is the need to assess their knowledge, attitude and practice of premarital screening of sickle cell disease so as to direct interventions at reducing the reproductive risk of sickle cell disease thereby contributing to a decrease in the prevalence of sickle cell disease in Nigeria. The study is therefore undertaken to assess the knowledge awareness and practice of premarital genetic screening for sickle cell anemia disease among undergraduate students of Kaduna State University.

1.2 STATEMENT OF THE PROBLEM

Sickle cell disease is the commonest genetic disease worldwide and includes discorders affecting the structure, function or production of haemoglobin, that afflicts a great number of people in this part of the world and subjecting them to unspeakable bouts of burden as well as torture (Akinyanju & Olujohungbe, 2007). It is the most common pathological haemoglobin variant worldwide and majority of children born with sickle cell anaemia die before reaching five years of age (Weatherall et al. 2006). It is a disease entity endemic in nigeria and is the commonest single genetic disorder of the black race (Adeodu, Alimi & Adekile, 2000; Olatunji, 2002). Nigeria has the highest number of sickle cell disease in the word with prevalence found to be 10 persons with sickle cell disease per 1000 population ( Arulogun & Adefioye 2011; Egbochukwu & Imogie, 2002).

The main pathology in sickle cell disease is the trapping of sickle shaped red cells in small blood vessels resulting in blockages. This typically manifests as bone pain, which is one of the most distressing symptom in people affected by sickle cell disease. The same process can result in other complication including, strokes, bone necrosis, and kidney failure. Some affected persons also have potentially stigmatizing signs including jaundice, leg ulcers, and short stature. This is often precipitated by factors such as infection, dehydration, exhaustion and a change in temperature etc which may often warrant hospitalization of the clients (Wethers, 2000).

Genetic screening has the capability of improving and lengthening human life. If used in an ethical manner, genetic testing can eliminate unforeseen suffering and distress (Bahado et al, 2008). Premarital genetic counsrlling as a control strategy for sickle cell disease involves giving at “risk persons” accurate, full and unbiased information necessary to assist them in reaching decisions on any course of action regarding marriage (Akinyanju & Olujohungbe, 2007). Such marital decisions and the subsequent courses of action are extremely important in various forms of relationship/courtship that likely to culminate in matrimonial wedlock. Nigerians are known to consider a myriad of factors before proceeding with marriage, ranging from beauty, to level of education, socioeconomic status, love, ethnicity, religious and parental choice. The influence of genetic factors seems to be given little or no consideration (Abd-Al-Azeem et al, 2011). 

Despite the advantages, benefits and importance of premarital genetic screening, the alarming rate of genetic defect is still on the increase. A survey by the African network for prevention and protection against child deformity and neglect, which was set up in 1988 by some African countries including Nigeria, shows that majority of children having genetic defect is due to” lack of knowledge, and negligence of their parents (Oyedeji, 1995). A study on the level of knowledge among university students in Enugu, Nigeria, showed that there is paucity of knowledge about sickle cell disease especially among students in non-medically related faculties many of whom did not know their geno-type (Ogamdi & Onwe, 2000). In a study by Adewuji in Ilorin, Nigeria, among fresh university graduates showed poor knowledge of sickle cell disease, as only 43% of the respondents showed little understanding of the disease and just about 32% of them know their haemoglobin genotype (Adewuji, 2000). Similar study in Benin city, Edo State, shows that majority of the students (55.1%) do not know their genotype and more than half of them have wrong idea of the importance of premarital screening which can guide unmarried youth in male selection and help in reducing of homozygous cases (Bazuage & Olayemi, 2009).

Moronkola’s and Fadairo’s (2006) study of university students in Nigeria found that 23.4% of the students did not know their carrier status (Moronkola’s and Fadairo 2006). A recent study of trainee teachers, who were students at the University of Rivers State university of education in nigeria, showed that some (19%) of the student believed sickle cell disease was caused by evil spirits or bad food (27%) and could be cured by spiritual healers (27%) (Ani, et al, 2012). Acharya, Lang and Ross (2009) recommended that effort to prevent sickle cell disease making. Though, having awareness about a health condition may not always mean that individuals will take a preventative approach. This change could lead to a chage in attitude among university students and young adults and lead to them embracing a screening behavior. Hence this study examines the knowledge, awareness and practice of premarital genetic screening for sickle cell anaemia disease among undergraduate students of Kaduna State University.

1.3 RESEARCH QUESTIONS

In view of the afore-going problem, this research intends to address the following questions:

1. What is the level of knowledge on premarital genetic screening for sickle cell anaemia disease among undergraduate students of Kaduna State University?

2. What is the attitude of undergraduate students Kaduna State University towards premarital genetic screening for sickle cell anaemia disease?

3. What is the levelt of practice of premarital genetic screening for sickle cell anaemia disease among undergraduate students Kaduna State University?

1.4 OBJECTIVES OF THE STUDY

The general aim of this study is to examine the knowledge, awareness and practice of premarital genetic screening for sickle cell anaemia disease among undergraduate students of Kaduna State University. In order to achieve this, the research will focus on the following specific objectives:

1. To determine the level of knowledge on premarital genetic screening for sickle cell anaemia disease among undergraduate students of Kaduna State University.

2. To examine the attitude of undergraduate students of Kaduna State University towards premarital genetic screening for sickle cell anaemia disease.

3. To assess the level of practice of premarital genetic screening for sickle cell anaemia disease among undergraduate students Kaduna State University.

1.5 SIGNIFICANCE OF THE STUDY

This study will shed light on the knowledge, awareness and practice of premarital genetic screening for sickle cell anaemia disease among undergraduate students of Kaduna State University. This will aid our knowledge about premarital genetic screening for sickle cell anaemia disease. The ability to identify the areas of concern of the study will help in improving health programmes. It will enhance people’s knowledge about premarital genetic screening among students and the general public. This study is deemed important given the scarcity of adequate literature or studies on knowledge, attitude and practice of premarital genetic screening for sickle cell anaemia disease in Nigerian universities. The findings of this study would hopefully create more awareness and serve as a source of reference for government, stake holders government organization, counselors, non-governmental organizations and administrators in research and policy. The study will benefit researchers, students, health care authorities, government, non-governmental organization and members of the public who are interest in reducing sickle cell anaemia disease prevalence from the dimension of health care. This will then allow the development of improved strategies of help or intervention either by the government, corporate institutions, the universities societies, groups and individuals on solving this prevalent disorder. The findings of the study will contribute to scientific literature on prevalent disorder. The findings of the study will contribute to scientific literature on premarital genetic screening for sickle cell anaemia disease.

1.6 SCOPE AND LIMITATION OF THE STUDY

The research shall be carried out within confines of Kaduna State University. The research primarily focuses on undergraduate students of Kaduna State University as such it is restricted solely to undergraduate students. Also, the research is concerned only with issues that have to do with the knowledge, aware and practice of practice of premarital genetic screening for sickle cell anaemia disease.

1.7 DEFINITTION OF KEY TERMS

Some basic concepts used in this in this research work are defines below:-

• Pre-Marital: Relating to events before a marriage.

• Knowledge: This refers to the facts, information and skill gained through education or experience.

• Attitude: Refers to the predisposition or a tendency to respond positively or negatively towards a certain idea, object, person, or situation. Attitude influences an individual’s choice of action, and responses to challenges, incentives, and rewards (together called stimuli)

• Practice: This refers to the actual application or use of an idea, belief, or method, as opposed to theories relating to it.

• Genetic Counseling: Communication process between health care provider and client that emphasizes and provides accurate and up-to-date information about a genetic disorder in a sensitive and supportive, non-directive manner (SCDAA, 2005).

• Hemoglobin: Chemical substance (an iron containing protein) of the red blood cell, which carrier oxygen to the tissues, and gives the cell its red color (SCDAA, 2005).

• Hemoglobin A: (HbA) Hemoglobin is composed of two alpha globins and two beta globins, normally produced by children and adults (Jones, 2008, p. 119).

• Hemoglobin C Trait (AC):  Inheritance of one gene for the usual hemoglobin (A) and one gene for hemoglobin (C). A person who has the hemoglobin C Trait (AC) is a carrier of the hemoglobin C gene, and is not affect is not affected by the gene (SCDAA, 2005).

• Homoglobin C Disease: A person has both HbS and HbC and is often referred to as “HbSC”. Hemoglobin C causes red blood cells to develop. Having just some hemoglobin C and normal hemoglobin,  a person will have any symptoms of anaemia. However, if the sickle hemoglobin S is combined with the target cell, some mild to moderate anemia may occr (UMMC, 2010).

• Sickle Cell Thalasaemia (Hb-SSthal): An inheritance of both the thalassemia and sickle cell genes. The disorder produces symptoms, of moderate anemia and many of the same conditions associated with sickle cell disease, but to a milder degree (UMMC, 2010). 

• Sickle Cell Anemia (SS): An inherited disorder of the red blood cells in which the hemoglobin is different from the normal hemoglobin. This unusual hemoglobin results in the production of unusually shaped cells and is referred to as “HbS”. It is the most common and severe form of the sickle cell variations (SCDAA, 2005).

• Sickle Cell Disease (SCD): An inherited disorder of the red blood cells in which one gene is for sickle hemoglobin (S) and the other gene is for unusual hemoglobin such as S, C, Thal (SCDAA, 2005;UMMC,2010).

• Sickle Cell Trait (SCT): A person carrying the defective gene, HbS, but also has some normal hemoglobin HbA. Persons with the sickle cell trait are usually without symptoms of the disease, but mild anemia may occur under intense, stressful conditions, exhaustion, hypoxia (low oxygen), and/or severe infection. The sickling of the defective hemoglobin may occur and result in some complications associated with sickle cell disease (UMMC, 2010).