WELCOME TO KENTERPRO:
AWARENESS, ATTITUDE AND PRACTICES OF PRE-MARITAL GENOTYPE TEST AMONG UNMARRIED STUDENTS OF FEDERAL COLLEGE, PANKSHIN

 CHAPTER ONE

INTRODUCTION

• Background to the Study

Genetic Testing and Screening have become parts of contemporary medicine and public health initiatives. These terms are usually used interchangeably, but the term ‘Testing’: denotes a genetic test done on an individual on a voluntary basis, while ‘Screening’: implies large-scale public health initiatives (Greenetal, 2016).

Genetic disorder is a disease condition that occurs as a result of mutations, which could be fatal and cause varying degrees of harm (Taylor et al., 2017). It occurs as a result of a change in the nucleotide sequence in the DNA molecules in a particular region of chromosomes. The genes that have been altered are referred to as Mutant Genes. Gene mutation can cause loss, addition or rearrangement of bases in the gene. The mutation takes different forms and these include; duplication, insertion, deletion, inversion and substitution of bases (Odunlade, 2015). Examples of diseases that occur as a result of substitution mutation are sickle cell anemia, cystic fibrosis, phenylketonuria and hemophilia.

Sickle cell disease is a common genetic condition that affects hemoglobin – inheritance of mutant haemoglobin genes from both parents resulting in HbSS. It occurs at a frequency of 1 out of 1600 among black people. Another sickling variant is HbSC disease which is a milder sickling disorder. It is present in 1 of 1100 African Americans. The symptoms are similar to that of sickle cell disease but less frequent and severe. In S-beta thalassemia, individuals inherit one sickle cell gene and one gene of beta thalassemia. Sickle cell trait is the heterozygous carrier state of HbAS. These individuals are generally healthy as non-carriers. About 5% of the world population carried genes that are responsible for haemoglobin disorders (WHO, 2016). Sickle cell anemia contributes to an equivalent of 5% of under-five year old deaths and 9% in West African and up to 16% in some countries (WHO, 2016). Many also die before their reproductive age. Sickle cell anemia poses serious threat to health, especially in developing countries. Awareness on genetic understanding and screening is not a common practice and the diagnosis is usually made when it is presented with a severe complication. Even when tragedies such as two or more miscarriages, still births, or children die in infancy, many at times, doctors do not order a blood test to take a closer look at the genetic makeup of parents or refer them to a genetic counsellor. Therefore, the most important challenge is to raise the awareness on its causes and prevention through health education (Adeyemo et al., 2017). 

Sickle-cell anaemia is an autosomal recessive genetic disease and a person with the disease must have inherited a copy of the defective haemoglobin gene from each parent. Sickle-cell aneamia is caused by a defective gene that produces an abnormal form of haemoglobin, the component of red blood cells responsible for transporting oxygen from the lungs to the tissues. The abnormal haemoglobin, called Haemoglobin S (HbS), is an example of a single point mutation in the gene responsible for Haemoglobin Synthesis (Adekile, et al., 2019).

Sickle cell anaemia has been known in Africa before the twentieth century and the inhabitants have given it several names based on their understanding and trait. Some linked the disease with reincarnation such as the case of Ogbanje by the Ibo and Abiku by the Yoruba, both in   Nigeria and Banyangi in Cameroon (Bazuaye & Olayeme, 2019). Thalassemia is among the most common genetic disorders worldwide. The beta thallasemia are widespread throughout the Mediterranean region, Africa, the Middle East, the Indian subcontinent and Far East (Refatllari, 2017).  Sickle cell disorder (SCD) is one of thecommonest but preventable inherited diseases.It is a disease that affects the red blood cells andis a lifelong ailment which has been with mansince the existence of man. Sickle cell affects allraces of the world; it affects the people of tropicalAfrica, Mediterranean Sea, Middle East and SouthIndia. It has contributed significantly to the highchildhood mortality rate (Afolayan and Jolayemi, 2011).

Nigeria has an estimated population of 201million with annual growth rate of 3.2% (Afolayan and Jolayemi, 2019). Thecurrent figure of individuals in Nigeria with thisdisorder is not known since the majority born inrural community do not survive childhood and the cause of death is poorly documented. However, approximately 2.3% of the Nigerian population suffersfrom sickle cell disorder and about 25% ofNigerians are healthy carriers of the abnormalhemoglobin gene (Afolayan and Jolayemi, 2011). Anie et al., (2010) was also of the view that SCD isa global health problem with psychosocialimplications and Nigeria has the largestpopulation of people with SCD with about 150,000births annually. Although over 300,000 babies areborn worldwide with SCD, this is common mostly in low income countries. Since the discovery of sickle cell disease by Herrick in 1904 as published in 1910, a lot of new information has been made available about the disease. Studies have shown that the genetic basis of the disease is the substitution of valine for glutamic acid in position 6 of the globin chains (Nussbaum, 2011).  This results in the sickling of the red blood cells leading to the clinical features of the disease inheritance of the gene by the Medellian Law and couples with AS will have 25% chance from each pregnancy to have Hb SS child, 50% chance of Hb AS and 25% chance of Hb AA (Bazuaye ad Olayeme, 2019).

Genetics diseases are disorders of the hereditary materials called Genes and Chromosomes. They happen to be the oldest, most widespread and probably the most burdensome of all human afflictions. The common tie among genetics diseases is that victims are born with this condition or with the susceptibility to develop the disease later in life. Some genetic diseases are inherited in a complex manner in which several genes are involved, while some others involve multiple genes together with certain environmental factors, such as the dietary, for the condition to express itself (Karmon et, al 2010). There are different types of Genotype as postulated by Brender and Leaner, (2012); and Odesina (2012); which are AA, AS, SS, SC (Sickle Cell Haemoglobin C) and sickle cell Thalassemia. 

Most communities in Africa have very reliable traditional pre-marital mechanisms for ascertaining the future health challenges to which intending couples may by exposed. It basically involves an extensive investigation of the history of both families before family consent is given to the intending couples to get married. The method helps to provide information on occurrences, past or present, in any of both families of such diseases like leprosy, mental illness, or even antisocial behaviours like stealing which are considered stigmatizing among Africans (Epstein, 2011). The genotype of an individual differs subtly from his/her genomic sequence. A sequence is not an absolute measure of the base composition of that individual or is it representative of a species or group. A genotype typically measures how an individual differs or is specialized within a group of individuals or specie (Burke and Thomson, 2010).

Many religious organizations are currently requesting would-be-couples to conduct pre-marital genotype test. It is believed that marriage between two carriers of the Sickle Cell trait (HbAS) could only be described as an irrational plunge into troubles and as such, the couple risks the tendency to produce children with sickle cell anaemia in every of four children child/children that they bear. According to Mendelian‘s principles of inheritance, there is the tendency that two people who are carries could give birth to a sickle cell anaemia child/children. The couple could even have all their children with sickle cell anaemia irrespective of how many (Damilola, 2012). The fact that the victims of this genetic disorder suffer as a result of the ignorance or selfishness of their parents makes it quite pathetic. According to Damilola (2012), anyone who has ever witnessed the great anguish that an individual with sickle cell anaemia goes through during a period of crisis will definitely not need the eloquence of a preacher before reconsidering taking genotype incompatibility as one of the numerous risk of life. 

The recognition of sickle cell aneamia as an important public health issue is necessary to ensure that young people are aware of sickle cell anaemia and how genotype test could assist them to avoid genotype incompatibility. 

1.2 Statement of the Problem

From time immemorial, genotype testing has been a major problem for young intending couples in Nigeria. It is so crucial that many couples have called off their marriage plans owing to refusal or failure of a partner to undergo test prior to their marriage (Okome, 2017). The likelihood exists that there are many young people who do not believe in genotype testing before marriage. However, this does not eliminate the need for young people to know the implications of lack of genotype testing to them especially to the children they intend to raise in the future. By so doing, they can make informed decision about whether or not they would like to continue with the marriage plan or prepare in advance for the economic need to manage the offspring‘s from such crisis. Without doubts, the submission of intending couples to genotype testing is one of the surest means through which they could come into this vital knowledge (Omenn, 2010).

Genotype mismatch is a major problem among young people who intend to get married. In recent times, this has become a very crucial indicator for people considering marriage as many people with mismatched genotypes who got married previously without due consideration of this issues, end up having children with Sickle Cell disease who are highly maintenance kids with the additional fear that they may not live long. Thus many of such marriages with the aforementioned problems do not stand the test of time. Therefore, it has become prevalent for intending couples to conduct Genotype testing as part of their marriage plans to avoid the mistakes of earlier generations. The solution to this problem is educating intending couples on the need to go for genotype test before planning for marriage. 

Poor availability of resources to the Public Health and Welfare sectors and economic inflation are severely curtailing access to appropriate medical and social services. This situation is frustrating to the families of a growing number of surviving patients in urban or middle to upper income groups. Efforts to create more awareness of SCD are paradoxically increasing frustration and stigmatization in the absence of a commensurate improvement of services (Akinyanju et al., 2015). Any measures aimed at enhancing the sensitization of health professionals, policy makers, and resource allocators to the pertinent issues in the control of SCD would seem to be at this stage an important step in the right direction.

According to Clement and Chukwuma, (2014), the level of knowledge on genotype testing among young people is about 55.5% in Nigeria according to a research conducted in a hospital to assess the knowledge of sickle cell as a tool for marriage. Like most hereditary diseases, sickle cell anaemia constitutes a burden to families when even a member suffers from it, especially as it affects the family’s finances and emotions.

This study was designed to assess the awareness, attitudes and practices of selected young people towards genotype testing which is an appropriate and effective medical diagnostic tool for preventive measure against socio-economic and psychological burden that may result from marriages of genetically incompatible partner.

1.3 Purpose of the study

The main purpose of is to determine the level of awareness, attitude towards sickle cell anaemia and genotype test and future intention to undergo test among the un-married students of Federal College of Education, Pankshin in order to obtain and provide important baseline data, and make recommendations that could be useful in promoting the importance of pre-marital genotype test.

1.4 Research Questions

The study provided answers to the following: 

1. What proportion of respondents are aware of sickle-cell anaemia and pre-marital genotype test?
2. What is the respondents’ attitude towards sickle cell anaemia and genotype testing?
3. What are the respondents’ practices on genotype testing?
4. What is the future intention of respondents to undergo genotype testing?

1.5. Research Objectives

The specific objectives that guided the study are to:

1. Determine the of respondents are aware of sickle-cell anaemia and pre-marital genotype test.

1. Examine the respondents’ attitude towards sickle cell anaemia and genotype testing.
2. To appraise the respondents’ practices on genotype testing.
3. To find out the future intention of respondents to undergo genotype testing.

1.6. Research Hypotheses

H₁: There is a significant relationship between respondents’ awareness and sickle-cell anaemia and pre-marital genotype test among students of Federal College of Education, Pankshin.

H_o: There is no significant relationship between respondents’ awareness and sickle-cell anaemia and pre-marital genotype test among students of Federal College of Education, Pankshin.

1.7 Significance of the Study

            The benefit of this study cannot be underemphasized especially now that the issue of sickle cell anaemia is becoming prevalent in modern society. Therefore, this study shall be of benefit to unmarried students, counsellors, Government and future researchers.

            Intending or unmarried couples who are students in Federal College of Education, Pankshin will benefit from this study as they will come to understand the importance of pre-marital genotype testing which will determine their compatibility. This will help them avert giving birth to children who are SS which will be liability to them.

            Counsellors will get a line of action in terms of counselling intending couples. Therefore, they will counsel them and advise them on the importance of carrying out genotype testing.

Government will see the need to create more awareness on the risks involved in marrying a partner with incompatible genotype. This awareness can be created using mass media and social media which will go a long way in curtailing the rampant cases of sickle cell anaemia in Plateau state and Nigeria as a whole.

            When this research is completed, it will serve as a reference material to future researchers who want to carry out further research in this field. This is to say that it will add to the already existing body of literature on pre-marital genotype testing among unmarried students and other individuals.

1.8. Scope/Delimitation of the Study

            This study covers awareness, attitude and practices of pre-marital genotype testing among unmarried students. The study is restricted to all students of Federal College of Education, Pankshin. Determine the of respondents are aware of sickle-cell anaemia and pre-marital genotype test. The study will find out respondents’ attitude towards sickle cell anaemia and genotype testing, determine respondents’ practices on genotype testing and also find out whether respondents wish to undergo genotype testing in the future. However, despite the fact that the study is restricted to the selected tertiary institution, its findings will be generalized to other tertiary institutions in the state and country as a whole.

1.9. Operational Definition of Terms

In the course of this study, the following concepts have been liberally used. Thus, it is thought that the concepts should be clearly defined in order to enhance the reader’s appreciation of the specific contexts in which they have been engaged: 

Genotype: This is genetic constitution or genetic makeup of an organism or individual and usually with reference to specific character under consideration. The genotype is the genetic constitution of a cell, an organism, or an individual.

Genotype testing: This refersto the examination of the biological factors that determine inherited characteristics from the point of conception, eventual birth and throughout life. It involves a scientific process of collecting and testing the  blood sample of intending couples to determine their susceptibility to biological traits (e.g. sickle cell anemia) and the extent to which the test outcome could influence their decision to get married.

Gene: This is a unit of inheritance. It is actually a sequence of DNA that is arranged linearly along a chromosome.

Alleles: This is one of two or more contrasting genes situated at the same locus in homologous chromosomes that determine alternative characteristics in inheritance.

Phenotype: This is the entire physical, biochemical and physiological nature of an individual as determine by his genotype after due interaction with his environment.

Sickle Cell Anaemia: This is a disorder where the body makes red blood cells that are shaped like a crescent moon or the letter ’C’ when they are depleted of oxygen.

S Beta Thalassemia: It is found in an individual who inherits thalassemia hemoglobin from one parent and the sickle cell hemoglobin from the other.

Sickle cell disease: This include all hereditary and haematological disorder in which sickle cell haemoglobin (Hb) is present. It involves two abnormal allelomorphic gene related to haemoglbin formation, at least one of which is sickle cell gene.

Sickle cell trait: This occur when a sickle cell gene is inherited from one parent and a normal gene from the other, this condition is usually without clinical significant.

 Sickling test:   It is used to determine the existence of sickle haemoglobin in one’s blood.