Thalassaemia prevention in Maldives: effectiveness of primary, secondary and tertiary prevention interventions

Background
Republic of Maldives (Maldives) is an island nation in the Indian Ocean with a population of 344, 023. Maldives has one of the world’s highest carrier rates of the β-thalassaemias in the world: β-thalassaemia carriers 16-18%, α-thalassaemia carriers 2.1%, HbE carriers 0.9%, HbS carriers 0.13% and HbD carriers 0.43%. It has been more than 20 years since the establishment of free genetic screening for carriers and treatment for thalassaemia majors. Patient registration and free treatment for thalassaemia majors were established in 1994. Prenatal diagnosis has been allowed since 1999.

However, during 2001-2012, approximately 28 new major cases are recorded annually. As at August 2014, a cumulative total of 803 thalassaemia cases were registered in Maldives. Currently, 563 thalassaemia patients were living: which is approximately 1.6/1000 population. A large proportion of 459 people of the total thalassaemia major population were transfusion dependent β-thalassaemia majors in Maldives. The eldest of the major population was 36 years and the median age of the total population was around 13 years. According to the thalassaemia register of Maldives Blood Services (MBS), 288 thalassaemia majors were residing in the capital Male’ while the other half lives in outer atolls.

The high number of new cases each year indicates that thalassaemia prevention program is not effective and research into the area is a starting point to improve the program. The aim of this study was to explore and evaluate the effectiveness of thalassaemia prevention interventions in Maldives. The Population prevention model articulated by Leavell and Clark was used to attain a holistic picture of the program activities. As such, three levels (primary, secondary and tertiary) of prevention interventions were explored. Primary prevention included health education, genetic screening and counselling. Secondary prevention included prenatal diagnosis. Tertiary prevention included treatment of people living with thalassaemia in Maldives.

Methods
The three levels required different participants and study approaches. Therefore, this study was divided into three sub studies; each targeting a different intervention level. A generic qualitative approach using face-to-face in-depth interviews was used for studies one and two. Both studies were underpinned by a constructivist paradigm. Participants of study one were Maldivians who married and had thalassaemia major child/children without screening for thalassaemia and Maldivians who married and had thalassaemia major child/children in spite of knowing their carrier status. Study one examined two different aspects, hence, it was divided into two parts (study 1a and 1b). Study 1a included 22 participants and study 1b included 23 participants. The second study included Maldivians who undertook prenatal diagnosis and termination of pregnancy due to thalassaemia. Study two included 21 participants. Purposive sampling was used to select informants for these two studies. All interviews were conducted in Maldivian local language (Dhivehi) and later translated and transcribed to English for analysis. Thematic analysis was used for the two studies and NVivo was used for data management.

The third study was a cross-sectional study conducted using SF-36 survey to evaluate the Health Related Quality of Life (HRQoL) of transfusion dependent thalassaemia patients in Maldives. The target population was thalassaemia majors who were 14 years and over and were registered at Maldives Blood Services (MBS). All thalassaemia majors had to register with MBS by law. I was able to access 74.4% of the target population. The SF-36 survey form was translated to the local language and it was administered with an additional form to collect participant characteristics. In addition, patient records of MBS were also collected and analysed. The HRQoL scores were calculated as advised on RAND website. Simple linear regression was computed for HRQoL scores to evaluate the association with predictor variables.

Results
Findings of the first part of the first study showed that participants did not undergo carrier tests due to lack of awareness and poor understanding related to the dynamics of thalassaemia propagation. Findings of the second part of the first study showed that genetic make–up was not a barrier to marriage and access and quality of genetic counselling participants received was poor. The main reasons for not doing prenatal diagnosis were cost and religious beliefs. The consequences of having thalassaemia major children were emotionally and economically devastating for both groups. Religion was the main coping strategy they used.

The findings of the second study, presented as themes, showed that Maldivians undertook prenatal diagnosis for reasons including ‘I desire the joy of pregnancy’, ‘Our wish is not a choice’, ‘If I didn’t, others would blame me’, ‘It is the ethical decision’, ‘Encouragement and recommendation’, ‘Experience with thalassaemia major children’, ‘Religion allows it’ and ‘We want a ‘Saviour Child’. The barriers to prenatal diagnosis included cost, travel, limited time, procedural, fear, distress and hope and wishful thinking. Maldivians heavily relied on Fatwa (a consensus edict of Islamic scholars) and scholars’ advice in prenatal diagnosis and termination decisions. All participants in this group believed in fatwa, but had difficulty accepting the actions (termination of pregnancy) that follows. Hence, many participants were torn between fatwa and their moral beliefs.

A total of 145 participants of age 14-33 years took part in the third study. The
mean HRQoL scores from highest to lowest were 87.3 (Social Functioning), 83.7 (Physical Functioning), 77.5 (Emotional Wellbeing), 75.0 (Role Physical), 71.5 (Role Emotional), 68.8 (Bodily Pain), 64.4 (Vitality) and 62.3 (General Health). Education, gender, number of transfusions, presence of co-morbidities, age of first transfusion, compliance to iron chelation therapy, type of iron chelation therapy, marital status, average haemoglobin level, transport and residential island showed a significant association with HRQoL scores while age, household income, serum ferritin level, onset of anaemia, accommodation type, employment, frequency of transfusion and iron chelation therapy type did not show any significant association with HRQoL scores.

Conclusions
Primary prevention related findings showed that primary prevention efforts should look into knowledge, attitude and behaviour of the thalassaemia carrier population in Maldives. Prenatal diagnosis was limited due to socio-cultural and personal barriers. Many overcame those barriers, however, and undertook it with much effort. Religion was both a positive and a negative factor that both impedes and helps prenatal diagnosis decisions of thalassaemia carriers in Maldives. The HRQoL ratings of Maldivian thalassaemia major participants were good in comparison to other countries in the literature. Participants’ age did not show a significant association with any HRQoL sores, but the maximum age of 33 years among participants (and 36 years in the MBS registry) is a main concern as it is well below the life expectancy of Maldivians. Overall, the thalassaemia prevention program of Maldives has many strengths that need to be fostered and weaknesses that need improvements.