Introduction

Thalassaemia is an inherited disorder of red blood cells in which there is a defect in the production of normal haemoglobin. It is a haemoglobinopathy whereby there is partial or complete failure to synthesise a specific type of globin chain. There are two types of thalassaemia, alpha and beta-thalassaemia. In alpha-thalassaemia, the alpha genes are deleted. There may be loss of one or both genes from each chromosome 16, resulting in the production of some or no alpha globin chains. In beta-thalassaemia, point mutations usually occur resulting in no production or a decreased production in beta-chains. Beta-thalassaemia can be further divided into three: beta-thalassaemia minor, intermedia and major. In beta-thalassaemia minor, an individual is a heterozygote and is usually clinically asymptomatic or has mild anaemia. These individuals are also referred to as having the beta-thalassaemia trait. In thalassaemia major, individuals are homozygotes for this condition and are either unable to synthesize any haemoglobin A or produce very little of it. These individuals are dependent on blood transfusions for the rest of their lives. Beta-thalassaemia intermedia is used to describe those whose clinical severity of beta-thalassaemia lies between the mild symptoms of the beta-thalassaemia minor and the severe manifestations of beta-thalassaemia major. _{1 2 3 4}

It is estimated that 56,100 infants are born yearly with thalassaemia in the world. ₅ This figure is expected to rise in the next 20 years to 900,000 births of clinically significant thalassaemia disorders. Asia and Middle Eastern regions account for 95% of thalassaemia births. ₆ The countries mainly affected are those in the Meditarranean, such as Italy, Greece and Cyprus and in Asia countries like China, India and countries in South East Asia including Malaysia. _{7 8}

The population of Malaysia is 28.3 million comprising mainly of Bumiputras who make up the majority followed by the Chinese and Indians. ₉ Thalassaemia is the commonest inherited blood disorder in Malaysia. ₁₀ In 2010, there were 4,768 registered thalassaemics in Malaysia and 600 000 – 1000 000 carriers of the thalassaemia trait. ₁₁ Current statistics show that 1 in 20 Malaysians are carriers of the beta-thalassaemia trait. ₁₂ The majority of those affected are Malays. ₁₃ Children with thalassaemia have been found to have a lower perceived quality of life compared to their healthy counterparts. ₁₄ Annually, there are 120 – 350 infants born who have transfusion-dependent thalassaemia. ₁₅ These alarming figures led the Malaysian government to establish a thalassaemia Prevention and Control Programme in 2004, which has subsequently been revised in 2009 due to the increasing number of registered thalassaemics and the poor uptake of the screening programme. 15

This poor response to the screening programme can be attributed to the lack of awareness of thalassaemia among Malaysians. To date, there have been no published studies on the awareness of Thalassaemia among Malaysians. The dearth in research on awareness of thalassaemia has led to this study, which was conducted with the objective to determine the awareness of thalassaemia among rural folks of a fishing village in Penang Island, Malaysia.

Methodology

Setting: the study was conducted in a rural village in the island of Penang, Malaysia. This village is located in the north western tip of the island which is a very popular tourist destination. Most of the villagers were occupied as fisherman or were working in the tourism industry.

Study design: a cross sectional study design was chosen to achieve the objective of the study.

Sample: all villagers who were married and/or who were parents, who consented and who were not affected by any debilitating illness which rendered them unable to communicate effectively were eligible to participate.

Instruments: data was collected by trained research assistants using a questionnaire especially designed for this study. The interviews were conducted in the participant’s homes. Besides the baseline demographic information, a modified version of the Thalassaemia Awareness Questionnaire (TAQ) was used. The TAQ questionnaire was used in a published study conducted by Armeli et al ₁₆ among Italians and Americans. In the present study 15 questions out of the original 25 questions used in the Armeli et al study were used. The questions were designed to assess the knowledge of causes, symptoms and treatments of beta-thalassaemia. The 15 questions of either “No”, “Yes” or “Don’t Know” responses, were used to assess the participants’ knowledge on different aspects of Thalassaemia. The different domains looked at included personal history related to thalassaemia, its aetiology, diagnosis, treatment and prognosis. Only those who positively responded to the first question: ‘Have you ever heard of thalassaemia?’ were eligible to answer the subsequent questions. No scoring system was employed, because the aim of the questionnaire was to identify the areas in which knowledge on thalassaemia was poor.

Analysis: Analysis was done using PASW version 18. Results were tabulated and graphically depicted. Chi squared test was conducted to analyse the differences in gender, race, age, education levels, occupation and marital status.

Ethics: The study received the approval from the department’s institutional research and ethics committee before commencing. All respondents were asked to give an informed verbal consent before starting the interview. The anonymity of the participants is assured.

Results

Out of the total 208 villagers, 113 were eligible to participate. One individual chose not to participate, giving a 99% response rate. As shown in table 1, only 52 (46.4%) participants had heard of thalassaemia. Most were females, Chinese, in the age group of 20-29 and had higher levels of education. Among those who have heard of thalassaemia, two had been diagnosed with Thalassaemia, three had family members diagnosed with Thalassaemia and three had tested for Thalassaemia as shown in Table 2 below.

As shown in Figure 1 and table 3, except for the questions on ‘is thalassaemia a contagious disease?', ‘If both couple have Thalassaemia trait, is there a chance their child will have thalassaemia', 'Can thalassaemia be detected by a blood test?' and 'Can individuals with thalassaemia lead normal lives with appropriate treatment', majority of the 52 participants did not know the answers to the questions or responded incorrectly. Although half of the participants were aware of thalassaemia, their knowledge of thalassaemia was poor. Most of them knew how Thalassaemia can be diagnosed but most did not know the treatment and the prognosis of the illness.

The awareness of Thalassaemia increased as the age group decreased (p=0.025) and as the level of education increased ((p = 0.003), as shown in Table 4.

Figure 1

Table 1: Table showing the responses to Question 1

Figure 2

Table 2: Frequency of responses for Q.2 to Q.4

Figure 3

Figure 1: Stacked bar chart showing responses to Q.5 to Q15

Figure 4

Table 3: Frequency table of responses for Q.5 to Q.15

Figure 5

Table 4: Awareness of Thalassaemia

Discussion

In Malaysia, almost five percent of the Malays and Chinese are β thalassaemia carriers. ₁₇ A study in Hospital Universiti Sains Malaysia found that 16.3% of the blood donors who were screened for thalassaemia were positive for thalassaemia trait. ₁₈ In the present study less than four percent knew they had either thalassaemia or thalassaemia trait and less than six percent reported that they have family members who were diagnosed with thalassaemia or thalassaemia trait. These low figures could be due to the lack of thalassaemia awareness among the respondents in this village. The awareness of thalassaemia in this village was low compared with the awareness among the Italians and Italian-Americans, who are almost equally susceptible for carrying the thalassaemia trait. 16 Low awareness was also noted among the parents of children with thalassaemia major in Pakistan where only 15.8% knew the importance of blood screening and only 15% were aware that thalassaemia is an inherited disorder. ₁₉

Higher the education levels higher the awareness of thalassaemia. Lower levels of education can be an impediment to receiving information about this illness. In addition, those with lower levels of education may not be able to discern the information that they receive. Education is empowering, education not only increases awareness, it can help a thalassemic sufferer to be an active member of a society. ₂₀ Educated parents also play an important role in advocacy. ₂₁ However a study in Pakistan revealed that even educated respondents were ill-informed about thalassaemia. 21

Awareness campaigns for thalassaemia have been shown to be effective. The high awareness among Italians is due to aggressive public health measures, including screening and genetic counselling. 16 A survey conducted in England among population of South Asian descent in 1995 found that only 25% were aware of thalassaemia. After a 3-year awareness campaign via various platforms, the awareness increased to 60% in 2000. Similarly the percentage of reported blood screening increased from 4% to 10% after this campaign. ₂₂ This shows that awareness campaigns are effective, even if done in a modest way.

The World Health Organization (WHO), in a report in 2006, advised countries with a high prevalence of thalassaemia to draw up national guidelines to manage and control this condition. The WHO also advocated that focus be placed on public education, detection of genetic risks in the community and premarital genetic counselling. ₂₃ In keeping with this, the Malaysian government has established the thalassaemia Prevention and Control Programme in 2004. 15 In order to increase the awareness of the Malaysian population, the Ministry of Health, as part of the National Thalassaemia Prevention and Control Programme, has outlined that health education and promotion as one of the main activities. In 2009, a guideline on a National Thalassaemia Screening Programme was published. Currently, the Malaysian government provides voluntary screening to all those who wish to be screened, has developed prenatal diagnostic services and a protocol to thoroughly investigate the families of an index case. 15 However despite all this the awareness of thalassaemia is still low.

Premarital screening for thalassaemia is a standard practice in Cyprus, Greece, Iran and Italy. The premarital screening in these countries has been able to successfully identify and counsel many at-risk couples. 23 Premarital screening for thalassaemia has been shown to be advantageous, cost-effective and ethically acceptable as opposed to premarital screening for HIV, which is highly controversial despite being beneficial. ₂₄ It is estimated that the prevalence of HIV is only 1/10 th the figure of the estimated prevalence of thalassaemia in Malaysia. Despite the higher prevalence of thalassaemia in Malaysia as compared to HIV (0.5%), there is no premarital screening for thalassaemia but there is for HIV. ₂₅

Conclusion

The lack of awareness among the participants is a cause of concern. The problem could be the tip of an iceberg, indicating the lack of awareness among the Malaysian population as a whole despite the fact that thousands of children are born with Thalassaemia major every year in this country.

Limitations