Genetic counselling in sickle cell disease: views of single young adults in Ghana

Abstract

Sickle cell disease is a chronic inherited blood disorder affecting many people globally as well as in Sub-Saharan Africa. In Ghana, the disease has a prevalence of 2% with carrier rate of 20–25% among the populace. Genetic counselling is a cost-effective strategy in reducing the burden of this disorder. However, little is known about the relevance of this intervention particularly among young adults in their reproductive age. The purpose of this is to explore the views of single young adults about genetic counselling in the Accra metropolis, Ghana. An exploratory descriptive qualitative designed was used. Thirty-two (32) young adults between the ages of 18 and 28 years were purposively selected from a private university in Ghana. Four focus group discussions and twelve in-depth interviews were conducted. Data was analysed using content analysis technique. The results of the study revealed that young adults had knowledge about SCD and due to that showed positive perceptions towards genetic counselling in SCD. However, they were unaware of genetic counselling facilities in the country. They expressed willingness to accept genetic counselling related to SCD whether for a fee or for free. It was concluded that establishment of a number of genetic counselling centres is very crucial in the metropolis.

Background

Sickle cell disease (SCD) is a genetic disorder inherited at the time of conception where a person receives one set of genes from the mother and a corresponding set of genes from the father (Ahmad and Atkin 2000; Adewoyin 2015; Ohene-Frempong 2006; Benenson and Porter 2018; Dennis-Antwi et al. 2008; WHO 2017; CDC 2019; Saraf et al. 2014). SCD covers a group of genetic conditions in which pathology may be attributed to the presence of sickle haemoglobin (Hb S) (Booth et al. 2010; Cavazzana and Mavilio 2018). In many forms of the disease, the red blood cells change shape usually looking like a “sickle”, upon deoxygenation, because of polymerization of the abnormal sickle haemoglobin it contains (Mulumba and Wilson 2015; WHO 2016).The presence of this abnormal state causes vaso-oclusion and anaemia and may cause damage to major organs in the body when not treated (Bender 2017).

Globally, 5% of the world population have genetic traits of haemoglobin disorders largely sickle cell disease and thalassemia (WHO 2017). Also, it is estimated that 300,000 babies are born with severe haemoglobin disorders each year (WHO 2016). SCD has been discovered to be more prevalent in the USA and UK (Saraf et al. 2014). In a recent report by United Nations, between 20 and 25 million people worldwide are living with SCD, of which 12–15 million live in Africa (Mulumba and Wilson 2015). Sickle cell disease has been identified as one of the serious conditions affecting people in England; despite this, comprehensive data is not available with regard to the number of people affected (Dormandy et al. 2018).

The carrier frequency of SCD is highest in West Africans, Sub-Saharan Africa and African Caribbeans (WHO 2017; Grosse et al. 2011), and the majority of children in Africa (50–90%) have SCD (Odame et al. 2011). In Ghana, 2% of the population suffers from SCD, 20–25% are carriers and 1 in every 3 Ghanaian born in Ghana is ascertained to carry either S or C gene (Dennis-Antwi et al. 2008; Kyerewaa et al. 2011; Asare et al. 2018).

Patients with SCD may exhibit clinical manifestations after 5 months of life (CDC 2019). The most common signs and symptoms are the severe form of pain normally referred to as “crisis”. In addition, Adewoyin (2015) established that bone pain is the most common pain experienced by people living with sickle cell disease. Without effective health care, over 95% of children born with the disease die before the age of 5 years (Dennis-Antwi et al. 2008). Apart from their medical problems, SCD patients have economic, emotional as well as social issues. Due to the chronic nature of the disease, individuals suffering from it spend a lot of money on medical bills rendering them or their caregivers economically handicapped. This is evident by a study by the American Society of Hematology (2014) which revealed that SCD patients spend about 863 days in hospital in 5 years with a total cost of $1,283,176.83. Socially, they sometimes withdraw from some activities due to their poor health.

According to WHO (2016), the most cost-effective intervention to reduce incidence of haemoglobin disorders including SCD is genetic counselling. Genetic counselling is a communication process by which the counsellor is expected to factor the emotional aspect of the individual during genetic counselling as well as ensure clients gain detailed understanding into genetic counselling (Ellington et al. 2011). In addition, it is useful for premarital decisions among would-be couples especially carriers to understand the risks of possible transmission of the disorder to their children. Genetic counselling is very much important since management of SCD in terms of hydroxyurea and bone marrow transplant is not well advanced in the developing countries of which Ghana is a part (Mulumba and Wilson 2015). Despite the fact that genetic counselling is the possible way of preventing the increase incidence of SCD in Ghana, it is not as yet a national policy and also not available to the majority of Ghanaians approaching their marriageable ages and childbirth. This study therefore sought to explore how single young adults perceived genetic counselling in SCD in Ghana for them to make informed decision to undertake genetic counselling prior to marriage.

Methods and material

Study setting

This study was conducted in the Greater Accra region, the regional capital of Ghana. The region shares boarders with the Eastern region to the north, Central region to the west, Volta region to the east and the Gulf of Guinea to the south (Ghana Statistical Service 2013).The most recent population and housing census estimates that about 4,010,050 people reside in the region (Ghana Statistical Service 2013). Participants of this study were recruited from Valley View University, a faith-based university in Accra.

Study design, participants and sampling

A qualitative exploratory descriptive design was used (Creswell 2014). This design allowed in-depth exploration of the issue. The target population consisted of all students who were single young adults within the age range of 18 to 28 years. Participants were made up of males and females in level 200 to 400(students in their 2nd, 3rd and final years at Ghana Christian University College, Ghana) for both the Focus Group Discussions (FGDs) and the face to face interviews. Level 100 students were not eligible because it was assumed that they were freshmen and women who were then getting settled on the university environment. Students who were single but had children were not included in the study because the researchers were interested in individuals who were then considering childbirth.

Data collection procedure

Purposive sampling was used for the study in order to select participants who could provide the best information possible for the topic under exploration, as generally recommended in qualitative research (Creswell 2014). The study was conducted in a charted private university. This university provides faith-based value education to its students. The data collection lasted for a period of 1 month. Each focus group discussion lasted for 45–60 min.

Data collection tool

A semi-structured interview guide with open-ended questions was carefully designed by the researchers. The same interview guide was used for both the FGDs and the face to face interviews. This is because the researchers wanted to appreciate how people will behave and think when they are in groups and when they are alone. The interview guide consisted of two sections. Section A comprised of demographic data whilst the section B contained questions assessing the views of University students on genetic counselling of SCD. The interview guide was pretested among 6 students in FGD at Ghana Christian University which is also a faith-based institution.

Sample size determination

In all, 32 participants were recruited into the study. Four focus group discussions were done with a representation of five students in each focus group and twelve in-depth interviews. Data collection was halted when saturation was reached.

Ethical consideration

The study was ethically cleared by the Institutional Review Board (IRB) of Noguchi Memorial Institute of Medical Research. Also, official permission was sought from the university authorities. Participants’ consent was obtained. The ethical clearance was obtained at Institutional Review Board of the Noguchi Memorial Institute of Medical Research, University of Ghana, Legon. Confidentiality was ensured during the interview sessions as it was conducted in an enclosed room. Anonymity of the participants was maintained by excluding any personal information that may help to identify participants during the interview. Pseudonyms were assigned to the participants and focus groups to help protect their identity. Participants’ information was stored in the researcher’s personal computer with a password to prevent others from getting access, and also participants were assigned with pseudonyms in the group rather than their original names that will identify them. Privacy was maintained by ensuring that each focus group discussion was done independently. Their dignity was maintained by explaining the process to each member and seeking their consent. Also, a consent form was given to each participant to sign before engaging them in the research. Participants were informed about snacks in a form of biscuit and drink that will be given to them at the end of the interview. Again, all participants were treated equally regardless of their age, religion, sex, etc. Participants were permitted to withdraw from the study any time they deem fit.

Study procedure and data collection

Semi-structured interview guide was used to conduct the focus group discussions (FGDs) and face to face interviews. There was equal representation of males and females for the FGDs. The FGDs as well as the face to face interviews were conducted at venues that were agreed by all participants. Some of these places were classrooms, hostels of participants and other quiet place participants found convenient. Individuals in the focus groups were divided into two groups of five males and five females only; then, other two groups were mixture of males and females. In order to maintain confidentiality, respondents’ actual names were not used during the data collection and recording. Respondents are addressed as S1, S2, S3, S4, and so forth in this paper. The S means student, and the digits indicate how they are numbered for identification purposes. All the focus group discussions were conducted in English between 45 and 90 min. The ensuing discussions were audio recorded after permission had been obtained from participants. Field notes were also taken during the FGDs and the interview sessions to help as backup information during the transcriptions. Data was collected between May and July 2016.

Data analysis

The voice recordings were transcribed verbatim by listening to the recorded audio repeatedly to ensure that the right information was being heard. The transcribed information was organised and coded by examining the transcribed information line-by-line and selecting words and phrases that had similarities in meaning. Themes were finally identified by several comparisons of categories that had been found.

Methodological rigour

Methodological rigour in qualitative research was demonstrated throughout the study by ensuring confirmability, transferability, dependability and credibility (Polit and Beck 2014). The credibility was ensured by recruiting participants, who met the inclusion criteria. The dependability was ensured by capturing and explaining the method used for data collection, analysis and interpretation. Confirmability was also ensured by quoting verbatim the participants’ words, and finally, transferability was ensured by describing into detailed the study setting and procedure for data collection as well as the tool used.

Results

Demographic characteristics

Thirty-two single young adults within the age range of 18 to 28 years participated in the study. Eight (8) were in level 200, ten (10) in level 300, and fourteen (14) in level 400. With respect to gender, both females and males were sixteen (16) each. The participants were pursuing theology, computer science, business administration and development studies. Overall, three major themes were generated: knowledge on SCD, perception about sickle cell patients and awareness of genetic counselling and available services.

Knowledge about SCD

The study revealed that majority of the participants had good knowledge about sickle cell disease. The sub-themes that emerged include causes of SCD, manifestation of SCD and management of SCD.

Causes of SCD

This sub-theme presents respondents’ understanding of what causes sickle cell disease. Most participants knew sickle cell as an inherited disease. Some of the participants shared their view:

What I know is that, SCD is hereditary and we inherit them from our fathers and mothers. If a mother is a carrier and father is a normal person that is AA and AS there is a 50% chance of giving birth to a child with AS and 50% chance of AA. If they are all normal persons, that is AA, and then there is a 100% chance of giving birth to AA children. If the two of them are AS then the possibility that they will give birth to a child with AA is 25% and the possibility of them giving birth to children with AS is also 50% and then the SS is 25% (S3).

Furthermore, some of the participants believed that the major determinant of an individual sickling status is when both parents are having sickle cell trait. This is shown in the quotation below:

I know that SCD is a disease that you can get from your parents if they are both sickling positive (S1).

Manifestation of SCD

In this study, participants mentioned the manifestations of SCD and these centred on the signs and symptoms. Two cardinal signs and symptoms indicated by most participants were pain and changes in physical features of the affected individual. The pain was said to affect all parts of the body but commonly found at the joints of the person. Some participants in the group clearly expressed this opinion by differentiating it from rheumatism. They said:

They (Sickling positive individuals) experience pain, which is sometimes called rheumatism. They feel the pain at any part of their bodies. The pain can come at any time even when the weather is cold or hot. Also the Rheumatism with SCD is not the same with those without Sickle Cell. Actually the pain in Sickle Cell is somehow rheumatism and somehow not because rheumatism in normal person comes occasionally that is only when the weather is in its extreme, but with Sickle Cell, the pain can come at any time especially in their joints. Their pain is severe than as usual person will have (S4).

They always complain of pains at their joints, that is Rheumatism and in fact they really cry when they are in this pain (S7).

Moreover, physical changes including jaundice, stunted growth and ill-looking were noted by participants to characterise SCD. Some of the participants revealed their encounter with people with SCD who were jaundiced. Interestingly, some further elucidated the pathophysiology underpinning the occurrence of jaundice in SCD. S16 shared her thought:

The teenage groups get jaundice as a result of high rate of blood break down. This is because, the sickle red cells turn to be very weak and break away easily. The normal red blood cells stay in the blood stream for 120 days but the sickle red cells spend between 10 to 20 days. Therefore, the cells break away early causing the jaundice (S16).

Another feature described by members was the fact that people with SCD do not grow well. They used different expressions to indicate this idea. A group member who has a friend with SCD had this to say:

I have a female friend who is a sickle cell patient. Looking at her physical appearance, she is smallish but she is a very grown up girl of about 27 years. Comparing her age with her structure you wouldn’t believe it. In fact it doesn’t match at all. (S6).

Furthermore, some of the participants described SCD persons as unhealthy. Some perceived them as always falling sick and hospitalised on weekly basis.

Actually I know when someone has sickle cell in a serious situation, they are always ill. They are always sick. Almost every week they go to the hospital because they get sick. They always feel feverish and sick (S4).

Management of SCD

This theme describes the treatment given to SCD patients. Two main management options emerged from the discussion: hospital management and home management. Some participants indicated that SCD is managed at the hospital by health personnel. Description of the management in the hospital is evident in the narration below:

What I have heard is that in the early stages when they are diagnosed at the hospital, they have this medicine which they give to them on regular basis. They call it Folic Acid, and they take these drugs to rebuild their blood systems (S1).

On the other hand, another approach expressed by some participants was management of the disease at home by parents, siblings and friends. It was revealed that those who did not know the hospital management approach however knew of the home management.

In the home protective clothes such as trousers, socks, pullover and wooling blanket are used for them every time they are about to go to sleep. An eye should also be kept on them if possible you can sleep close to them so that if any crisis comes you will be able to help. Since we are all being told about our diets, more intake of fruits and vegetables will somehow solve 50% of their problems because it will help with the production of red blood cells. Also more urine will be formed and eventually everything washed out will be replaced. (S3).

Perception about sickle cell disease and carriers

This theme describes how the participants perceived SCD and people with SCD. Some of the sub-themes that emerged include thought on life span and attitude toward SCD.

Thoughts on lifespan

Some group members expressed that SCD carriers do not live long and that they have specific age at which they usually die. As one participant remarked:

I think they don’t live long. They don’t stay long because even if every day one blood cell is sickled at the end of the 20 years all the blood cells will be sickled (S12).

However, some thought otherwise. They thought SCD patients could live like any other individual. They said that if a sickle cell patient takes good care of himself/herself by avoiding alcohol, smoking and eating well balanced diet then he/she is likely to live longer. They expressed their disagreement in the following manner.

I have heard that they die at 18 years but my elder brother who was having SCD died before 18 and my sister is still living and she is above 18. I think she is doing well because of proper care and maintenance. Therefore, it depends on the individual how he takes care of his/herself. If you avoid alcohol, smoking and you eat well then you have more life span to live (S16)

Thoughts on the nature of the disease

Some were of the opinion that SCD cannot be cured because it is chronic. They compared it with other conditions to highlight their points. One stated:

Sickle Cell is a chronic disease because when you have it, it is just like AIDS. That is what I will say because when you have it, it is very difficult for you to be cured (S11)

Further, respondents share how they would feel if given birth to SCD. They used different terms to describe their feelings, but words that frequently came out were “sad” and “bad”.

Well I would say I will feel very sad because I know with Sickle Cell it means always the person will be attacked by the disease. As a parent if your child is sick you feel sad. You will also be sick and as a sickler, it means financially you are going to spend a lot on the child since you will always be visiting the hospital often (S1).

Awareness of genetic counselling and available services

This theme describes the three sub-themes including meaning of genetic counselling, benefit of genetic counselling and awareness of genetic counselling facilities.

Meaning of genetic counselling

Some of the participants described genetic counselling as a form of counselling that helps one to know his/her genetic makeup.

It is a kind of counseling that helps one to know his/her genetic makeup and how to live according to it and the problems associated with it (S6).

Advice was another expression used to describe genetic counselling by some respondents. Some of the respondents thought genetic counselling is a form of advice given to would-be couples in order to check their status. One of the respondents said:

Is like seeking advice from someone in terms of marriage issues. If I want to get married to someone, after testing our blood and maybe we find out that we have the disease we need to go for genetic counseling in order to backup (S6).

Other respondent described genetic counselling as a form of talk given by health workers. This is how S2 typically described genetic counselling:

It is going through something like a talk with medical personnel on genetics and our sickling status through running of test.

On the other hand, genetic counselling was wrongly explained to mean an educational programme organised for people to know their blood groups especially when they are about to marry. A respondent described it as indicated below.

Genetic counseling is educating an individual on the basis of his blood group most especially if the person is about to get married (S13).

Benefits of genetic counselling

According respondents, genetic counselling helps people who are at risk of developing genetic conditions to take informed decisions about future events such as marriages, childbirth and also to those who already have affected children or family members. One of the benefits expressed by most participants was “knowing self”. They described it as an opportunity to know one’s self.

It will really help me to know my genotype that is my genetic makeup and this will help me to know myself and put me on track (S2).

Almost all respondents were of the view that genetic counselling will help them in selecting their partners for marriage. Some said genetic counselling would help them to choose their partners whilst others said it would help them to encourage their future partners to test for their status to enable them take proper decisions.

It will help me to choose my partner. Before I go in I have to know my genetic type and know my partner’s own very well so that we will not have problems after the marriage (S4).

Every member in the group stated childbirth as one of the benefits of genetic counselling. Some said it was going to help them to know the type of children they were likely to give birth to. Others said it could help them to know if they would be able to give birth. Below is a response on the issue.

Before childbirth, it will help me to know whether am going to give birth to a carrier, a normal or a sickler. It will also help me to know because sometimes this same genetic makeup even if you meet with your partner you can’t get pregnant because of some reasons so it will help me know that one too (S2).

Knowledge on existence of genetic counselling facilities

Most respondents did not know of genetic counselling centres in the country. The responses indicated their knowledge on existence of genetic counselling centres. Participant S3 said:

I have not really heard of any center in the country. But I believe if you should go to the hospital and meet a doctor he will be ready to take you through the process and clarify issues for you.

Others believed that it is only when you ask then the nurses will show you in the hospital.

Some of these services are not run in many hospitals but I am sure there are people who are trained to provide them. If you ask the nurses, they will definitely tell you someone who can educate you (S20).

Discussion

This study aimed at exploring the views of single young adults about SCD and genetic counselling. Findings from the study showed that almost all participants knew that sickle cell was a genetic disorder that is inherited from both parents and were aware that individuals with SCD experience pains. Despite this, the majority of the participants in this study were unaware of their sickling status. The findings were in line with that of other authors (Benenson and Porter 2018; WHO 2017; Boyd et al. 2005) where 91% of their participants believed that SCD was a heredity blood disorder. Similarly, Treadwell et al. (2006) found all participants that took part in their study to have correct knowledge about the genetic basis and severity of SCD. In addition, a study done in Ghana by Kyerewaa et al. (2011) established that SCD occurs when a person inherits abnormal gene (S) from one or both parents. However, it was in contrast to those of Grosse et al. (2011), Baars et al. (2005), Moscarillo et al. (2007), Paz-y-Mino et al. (2006) and Adewuji (2000) studies. Similarly, Abel et al. (2015) found that youths living with sickle cell are ignorant about the genetic nature of SCD. Possible factors that may be accounting for the variations in level of knowledge are geographical differences and the academic status of the study participants.

Also, more than half of the participants did not know their sickle cell status. This was disturbing because there is a probability that they may be carriers without knowing and may date and get married to partners they are not aware of their status which will in turn increase the incidence and burden of the disease. This finding contrasts that of Boyd et al. (2005) where only 11% of their respondents did not know their status. The finding also was in contrast to a study by Mulumba and Wilson (2015) who found that majority of their participants knew their sickling status. The current finding also does not agree with Bache et al. (2007) who found that 9% of their respondents did not know their status despite an earlier chromosomal examination. Similarly, the findings of this study were not in line with a study done by Adewoyin (2015) who found out that majority of their respondents 94.6% knew their sickling status. The contrasts between the current study and the previous ones were not surprising since in Ghana, there is no known national programme that help an individual to know his/her status. People do not make conscious efforts to know their status unless they accidentally get to know either during hospital visits for treatment of diseases or during medical examinations for school or jobs. Recently, a study done in Ghana by Obed et al. (2017) also did not agree with this study. The difference may be due to the fact that the 2017 study in Ghana was done among pregnant women who are attending antenatal services who might have been educated on the condition by midwives.

Furthermore, this study also confirmed the understanding of the diagnosing procedure and the interpretation of the results. The finding is in line with Saukko et al. (2007) where patients’ understanding of genetic susceptibility testing in the mainstream medicine was studied with respect to thrombophilia. On the other hand, the finding contrasts that of Barnoy et al. (2006). According to the authors, 50.5% of respondents reported that they did not understand the test results (Barnoy et al. 2006). The findings support the conclusions that for one to be aware of his/her status, he/she needs to know the kind of test and its interpretation before embarking on such a test. Moreover, even though in the USA, a study done by Rolf et al. (2013) was in conformity with findings of current study where majority of nurses had sufficient understanding on genetic counselling; it was not supported by findings of Tomatir et al. (2007) and Godino et al. (2013) where a greater percentage of nurses had inadequate understanding of SCD genetic bases. Choi and Kim (2014) established that nurses who have high understanding of genetic counselling will be able to educate their patients better on the need for genetic counselling on SCD.

The findings of this current study also indicated that respondents were unaware of the existence of genetic counselling facilities in the country. During the interviews, only three respondents knew that Komfo Anokye Teaching Hospital (KATH) had a centre for genetic counselling. This finding may be attributed to the fact that there are limited centres that provide information on SCD in Ghana (Orish et al. 2014). This finding is in line with a Nigerian study by Kagu et al. (2004) where majority, 85.8%, of their respondents did not know where facilities for prenatal testing and counselling in SCD were. This revelation is not strange because in Ghana there is only one genetic counselling centre that deals with SCD and that is the one found in Kumasi at the KATH. This therefore means that if one is not in Kumasi or its environs then you are likely not to be aware.

In general, respondents had different attitudes towards SCD especially those who had not seen or related in a way with them. Some respondents thought that SCD patients do not live long and that they would eventually die. They described SCD as a serious and chronic disease such that they would not like to give birth to children with SCD if they are found to be carriers. This finding is congruent with studies by Dormandy et al. (2018) and Marcheco et al. (2003). Due to the fact that SCD was very serious to them, they were in support of genetic counselling that would help them to know themselves well so that if they were to be pregnant with SCD children they would know how to take care of them after delivery (Marcheco et al. 2003).

Recommendation

The findings of this study have important implications on practice, research and policy. The following recommendations have been suggested to various agencies in the country’s Ministry of Health and the Ghana Health service (Table 1).

Table 1.

Recommendations

Various agencies	Recommendations
The Ministry of Health	b.The Ministry should ensure that genetic counselling service is covered by the NHIS to increase its utilization by Ghanaians. c.The Ministry should work with the government in helping to set up more genetic counselling centres in the country. d.The Ministry of Health should consider engaging private health insurance companies to fund genetic counselling screening services to make it affordable for most Ghanaians to be able to patronize it.
Ghana Health Service	a.The GHS should ensure that workshop genetic counselling is organized among health professionals to increase their understanding, so they can also sensitized clients under their care. b.The GHS should also ensure that health education about genetic counselling is done on the various media in the country to help create awareness about genetic counselling as well as make them aware of the centres available for genetic counselling in the country.

Contribution to knowledge

• This study is one of the first studies on genetic counselling for SCD in Ghana and one of the few studies in Africa

Limitation of the study

• A qualitative research design was used making it difficult to generalize findings.

• The study site was limited to the Greater Accra region of Ghana, and therefore there is the possibility that there will be variations in the results in other region in the country.

Conclusions

This study has presented an in-depth exploration of perceptions of single young adults on genetic counselling in SCD in a private university in Ghana. The conclusions drawn were that young adults had knowledge about sickle cell disease. However, they were not aware of existing facilities on genetic counselling in Ghana. Participants also had different perceptions about SCD which included short lifespan of SCD patients.

Abbreviations

SCD

Sickle cell disease

Hb

Haemoglobin

FGD

Focus group discussion

NHIS

National Health Insurance Scheme

Authors’ contributions

SA conceptualized the study. SA and KAK designed the study and the interview guide. Data were collected by SA. Data analysis was done by SA and KAK. Manuscript was written and critically reviewed by SA and CAA and EOA. All authors read and approved the final manuscript.

Data availability

All data are presented in this article.

Competing interests

The authors declare that they have no conflict of interest.

Ethical approval

Ethical clearance was obtained from Institutional Review Board of Noguchi Memorial Institute for Medical Research. Permission was sought from the management of the school, and informed consent (written) was obtained from the participants.