Thalassaemia prevention in Asia: progress, challenges, and future directions

Summary

Thalassaemia remains a major public health burden in Asia, where high carrier frequencies, diverse mutation spectra, and variable healthcare capacity continue to influence disease prevention and control. This Series paper summarises the status of thalassaemia prevention programmes across 14 Asian countries and highlights the key challenges and opportunities affecting their implementation. Singapore, Malaysia, the Maldives, and Thailand have established the most structured prevention strategies, incorporating combinations of public awareness, carrier screening, genetic counselling, and prenatal diagnosis, with measurable success most clearly demonstrated in Singapore and, to a specific extent, Thailand. In contrast, many other countries in the region continue to face fragmented services, limited national coordination, shortages of trained personnel, inadequate epidemiological data, and financial, technological, cultural, and social barriers. Differences in prevention efforts broadly reflect wider disparities in health system development. Strengthening national prevention programmes should be viewed as both a public health priority and a cost-effective investment in reducing long-term disease burden.

Introduction

The thalassaemia syndromes are a group of recessively inherited haemoglobin disorders characterised by the reduced or absent production of the α-globin (α-thalassaemia) or β-globin (β-thalassaemia) chains of the adult haemoglobin molecule. This ultimately leads to globin chain imbalance and excess of unpaired globin chains which form precipitates leading to premature death of red cell precursors (ineffective erythropoiesis) or red cells (haemolysis) and culminates in a chronic state of anaemia and tissue hypoxia of varying severity that may require regular transfusion therapy.¹

There is a tight link between inheritance pattern (genotype) and phenotype in thalassaemia.^2,3 Four α-globin genes (two from each parent) and two β-globin genes (one from each parent) are responsible for coding the two α- and two β-globin chains of haemoglobin. Over 370 different molecular defects are known to cause α-thalassaemia including deletional or nondeletional (qualitative and more severe) mutations in the α-globin genes. Individuals harbouring 1 (α-thalassaemia minima) or 2 (α-thalassaemia trait or minor) mutations are considered carriers while those inheriting 3 (α-thalassaemia intermedia or haemoglobin H disease - often non-transfusion-dependent except for nondeletional forms) or 4 (α-thalassaemia major or haemoglobin Barts hydrops fetalis - often die in utero or shortly after birth). Over 350 mutations in β-globin genes have also been described in β-thalassaemia. Heterozygous patients (β-thalassaemia trait or minor) are mostly carriers while patients who are homozygous or compound heterozygous manifest the clinically significant forms β-thalassaemia intermedia (non-transfusion-dependent) or β-thalassaemia major (transfusion-dependent) based on the severity of the primary mutation or secondary genetic modifiers. β-Thalassaemia mutations can also be co-inherited with the structural variant haemogobin E resulting in mild-moderate or severe forms of haemoglobin E/β-thalassaemia.⁴

Chronic anaemia and ineffective erythropoiesis can lead to various sequelae in patients with thalassaemia including bone marrow expansion and bone disease, splenomegaly and extramedullary haematopoiesis, increased intestinal iron absorption, and a hypercoagulable state.^5,6 Patients who require regular transfusion therapy suffer from consequences of secondary iron overload in the heart, liver, and endocrine glands and require effective and long-term iron chelation therapy. Multi-disciplinary care and monitoring for a wide range of complications are thus part of standard management.^4,7,8

In high prevalence regions of the world, thalassaemia is considered a serious medical and public health burden requiring specialised medical expertise and resources. In high-income countries, optimal management has directly influenced patient survival rates.^9,10 However, in low- and middle-income countries (LMICs), where over 80% of the global patient population exists, limitations in manpower, dedicated facilities, and access to or affordability of ‘adequate’ treatment and monitoring continue to impact patient outcomes leading to poor quality of life and premature deaths.11, 12, 13 In both settings, thalassaemia treatment is associated with a high economic burden (direct and indirect costs) on both the patient and healthcare system.14, 15, 16, 17 Similarly, the recent rise in available disease-modifying agents and curative therapies has not been met with wide implementation due to the extremely high cost, need for specialised expertise, and/or lifelong requirement for treatment.¹⁸

The continued increase in the number of new cases directly impacts demands in blood supply and other services. Restricting new births therefore remains a necessity, especially in high prevalence regions. This has led the World Health Organisation (WHO) to advocate that a thalassaemia genetic control program should be an intrinsic part of national healthcare systems.¹⁹ Key components of a prevention and control programme are summarised in Panel 1. Prevention programmes covering high prevalence areas also require substantial investment which must be weighed against the cost of treating the existing patient population.²⁰ More importantly, prevention services must be strategically planned, coordinated, and regulated through governmental policies, given their multiple interconnected components. These include public awareness and communication initiatives, regulation of specialised diagnostic laboratories, and oversight of medico-legal aspects such as carrier screening and the option of pregnancy termination following voluntary foetal testing and informed parental choice. Equally important is the need to educate the public on the value of screening and the broader goals of prevention for affected families and communities. Genetic counselling should be delivered by appropriately trained personnel, while specialised multidisciplinary services for prenatal and preimplantation genetic diagnoses must also be adequately supported. Neglecting any of these key components compromises the effectiveness of comprehensive prevention programmes and may fail to adequately address the needs and preferences of at-risk couples.

Panel 1. Components of thalassaemia control programmes.

• •National strategy on prevention with government approval, control, monitoring, and support
• •Public awareness programmes
• •Screening programmes to identify carriers
• •Genetic counselling services
• •Prenatal diagnosis as a choice for at-risk couples
• •Preimplantation genetic diagnosis
• •New emerging technologies (such as non-invasive prenatal diagnosis)

The aim of this Series paper is to describe the current status of thalassaemia prevention programmes in select countries in Asia and to summarise the principal challenges and opportunities that shape their effectiveness. For the purposes of this Review, we include all 11 Association of Southeast Asian Nations (ASEAN) member states (Brunei, Cambodia, Indonesia, Laos [Lao PDR], Malaysia, Myanmar [Burma], Philippines, Singapore, Thailand, Timor-Leste [East Timor], and Vietnam [Viet Nam]), as well as India, Maldives, and Sri Lanka from the WHO-defined South-East Asia Region (which also includes the AESAN countries Myanmar, Thailand, and Timor-Leste).

Search strategy and selection criteria

For epidemiological data on carrier states and affected individuals, we relied on the most recent Thalassaemia International Federation (TIF) Global Thalassaemia Review 2025 report, which is compiled annually by TIF to provide updated prevalence estimates. The report incorporates data retrieved through systematic literature reviews alongside information provided directly to TIF by national thalassaemia societies and health agencies.²¹ We also searched PubMed and Google Scholar for data relevant to the fourteen countries using the terms “thalassaemia OR thalassemia” in combination with “prevention” or “control” or “screening” or “diagnosis” or “epidemiology” to retrieve information on development, implementation, or outcomes of national screening and prevention programmes. We mostly selected publications from January 2010 to April 2026, but did not exclude frequently referenced and highly regarded older publications. We also searched the reference lists of articles identified by this search strategy and selected the most relevant ones. Information was also obtained personal experiences of contributors to this review who are actively involved in prevention programmes or are following their progress in their respective countries.

Burden of thalassaemia in Asia

Data on the epidemiology of thalassaemia syndromes have rarely met expectations globally in terms of comprehensiveness and real-time recency. This is primarily attributed to lack of population-based studies, and more importantly, registries, that prospectively document carriers and affected patients.²² Such data remain vital for informed screening, monitoring of affected births, and allocation of national resources for disease prevention and treatment.

The featured Asian countries in this paper have historically been associated with high prevalence rates and burden of thalassaemia syndromes including α-thalassaemia (deletional and nondeletional forms), β-thalassaemia, and haemoglobin E/β-thalassaemia (Table 1).²¹

Table 1.

Prevalence of thalassaemia carriers and clinically significant forms in featured Asian countries based on data from the 2025 Thalassaemia International Federation Global Thalassaemia review.¹

Country	β-thal carriers (%)	HbE carriers (%)	α-thal carriers (%)	Expected β-thal births/1000	Expected HbE /β-thal births/1000	Estimated TDT patients	Estimated NTDT patients
Brunei	2.0	3.7	NA	0.1	0.37	179	NA
Cambodia	0.3	40.6	1 α0 38.6 α+	0.9	0.773	48,000	NA
India	3.9	1.0	1–18	0.38	0.2	>100,000	NA
Indonesia	5	6.0	0.5 α0 2.9 α+	0.63	1.5	13,612	NA
Laos	2.6	30	6.2 α0 4.6–40 α+	0.169	5.16	279	NA
Malaysia	2.9	2.6	1.9 α0 16.8 α+	0.21	0.377	5442	3900
Maldives	18.1	0.9	12.0	8.16	0.81	666	NA
Myanmar	0.5	26	0.9 α0 20.6 α+	0.1	0.65	NA	4079
Philippines	1.2	0.4	5	0.036	0.024	600	NA
Singapore	1.6	1.7	0.9 α0 1.9–3 α+	0.022	0.03	258	NA
Sri Lanka	2.8	0.5	13.6	0.12	0.06	2000	1500
Thailand	2.9	24.6	9.3 α0 3–21.4 α+	0.21	3.57	2070	96,390
Timor-Leste	5	6.0	NA	0.63	1.5	NA	NA
Vietnam	1.1 (0–11.5)	4.2 (0–61)	4 (0–18.5) α0 5.2 (0–85) α+	0.6	1.3	>5000	>15,000

β-thal, β-thalassaemia; HbE, haemoglobin E; α-thal, α-thalassaemia; TDT, transfusion-dependent thalassaemia; NTDT, non-transfusion-dependent thalassaemia; NA, data not available; α⁺, deletion or inactivation of one of the α-globin genes in the linked pair; α⁰, deletion or inactivation of both α-globin genes in the linked pair on the same chromosome.

It is estimated that over 250,000 affected patients with clinically significant forms of β-thalassaemia or haemoglobin E/β-thalassaemia live in these countries, with smaller nations like the Maldives having the thalassaemia population reaching ∼1:840 of the total population.^21,22 A large concentration of severe haemoglobin H disease and non-immune hydrops fetalis is also expected and attributed to the high rates of α-thalassaemia carriers, especially nondeletional forms such as haemoglobin H Constant Spring and haemoglobin H Adana.22, 23, 24 Carrier distribution varies within countries, both temporally, geographically, and between ethnic groups/tribes due to variations in consanguinity rate and inbreeding, rapid urbanisation, internal migration, and increasing inter-state marriages. This subsequently alters traditional population structures and leads to greater mixing of carrier populations, creating additional challenges for targeted haemoglobinopathy screening and prevention strategies.

Beyond the high burden of overall and birth prevalence, limitations of resources for optimal patient management must also be mentioned. Of the 14 countries, only two with relatively small populations are classified as high income (Brunei and Singapore) by the World Bank, while eight countries are considered LMICs (Appendix pp 1). This is reflected in indicators such as health expenditure, which is over 500 USD per capita in Brunei, the Maldives, and Singapore only, while in LMICs it is mostly <200 USD reaching as lows as 20. Low health expenditure is also echoed by a broadly low universal health coverage index (<80), with the exception of Malaysia and Thailand alongside Brunei and Singapore (Appendix pp 1). Limited investment and development of healthcare infrastructure and personnel in many countries in the region also poses considerable challenges when dealing with the complex needs and care pathways of thalassaemia patients, especially as relates to blood transfusions and iron overload monitoring and management (Appendix pp 2). It should be noted, however, that some countries like Malaysia and Thailand have developed successful thalassaemia care models that are relatively comparable to the West. Moreover, in some large countries like India, although universal health coverage remains incomplete, several government-supported initiatives have expanded access to screening, diagnosis, transfusion services, prenatal testing, and specialised treatment for haemoglobin disorders. National insurance schemes and dedicated programmes such as the Coal India Thalassemia Bal Sewa Yojana have also improved access to bone marrow transplantation for economically disadvantaged children. While these efforts have helped reduce out-of-pocket expenditure, the economic burden of comprehensive thalassaemia care remains substantial and is projected to increase further with the growing patient population.25, 26, 27

A prevention policy should thus assist in reducing newly affected births which should also indirectly help in allocating and managing resources for existing patients. Population-based prevention programmes for thalassaemia were initiated almost 50 years ago in the Mediterranean, based on the need to control resources at a time when thalassaemia was considered a lethal disease of childhood.^28,29 Over the years and as these conditions became chronic diseases of adulthood, screening for carrier identification has become more of a service to provide at-risk couples with the chance for timely diagnosis and informed choice for termination of pregnancy when and where permitted, or otherwise to have practical preparedness for the potential of having an affected child. Similar programmes have been adopted in many other countries globally, while practices varied according to legal, cultural, and religious influences.³⁰

Prevention services and programmes

Brunei

At present, there is no nationally controlled programme for thalassaemia prevention in Brunei. There are ad hoc public awareness events and the public is more aware now of the need for prevention and the benefits of timely knowledge of carrier status as compared to 10 years ago, but overall awareness is still low. There is no premarital screening programme, but all pregnant women have routine full blood counts, and if the result is suspicious of possible thalassaemia or there is a positive family history, then haemoglobin electrophoresis is performed. This service is free of charge for all citizens of Brunei and genetic counselling is offered by the primary physician involved. Prenatal diagnosis is acceptable to the population but termination of pregnancy is illegal under the Penal Code, with strict prohibitions unless it is necessary to save the mother’s life. There are also limitations in the availability of skilled healthcare personnel and at present, around two thirds of doctors in Brunei are expatriates. There are no evidence-based data on actual affected births or reduction rates.³¹

Cambodia

In Cambodia, the reported high carrier rates of α-thalassaemia and haemoglobin E indicate that the predominant clinical syndromes are expected to be NTDT (haemoglobin H disease and haemoglobin E/β-thalassaemia).^21,32 The predominance of milder disease forms shapes policymakers’ and healthcare professionals’ perceptions of the need for prevention strategies and genetic counselling. However, births with severe forms of nondeletional α-thalassaemia and haemoglobin Barts hydrops fetalis continue to be observed.³² Thus, there remains a substantial unmet need to establish a national policy for the prevention and control of thalassaemia. A national registry of patients can also help determine the gene frequences in different regions of the country to allow tailoring of screening programs, especially that prenatal diagnostic services are largely still unavailable.³³ Low levels of community awareness of thalassaemia also highlight the need for effective health education.³⁴

India

In such a diverse population, multiple variables must be considered when evaluating the challenges of implementing prevention policies in India. Firstly, healthcare policies and their implementation vary considerably according to the priorities of regional governments. Although the national literacy rate has risen to approximately 80%, literacy levels remain low in certain populations, particularly among rural tribal communities. For example, among 2107 pregnant women screened in Pune city in the western Indian state of Maharashtra, β-thalassaemia carriers predominantly belonged to underprivileged social groups in whom nutritional anaemia was highly prevalent, resulting in haemoglobinopathies often being under prioritised as public health concerns.³⁵ Consequently, both awareness and access to local prevention and diagnostic services remain inadequate in many parts of the country.

Cultural diversity represents another major consideration, as attitudes and practices relating to marriage and reproduction vary substantially across different regions and communities. Although the overall prevalence of consanguineous marriage in India is relatively low (approximately 10%), rates are considerably higher in some southern states.³⁶

In India, antenatal screening is currently regarded as the most practical and effective strategy for preventing severe haemoglobin disorders, given the country’s large population, sociocultural diversity, and the more variable acceptance of premarital screening compared with certain other countries in the region. Consequently, several state governments have implemented antenatal screening programmes integrated within maternal and child health services, particularly through public sector hospitals and National Health Mission-supported initiatives.²⁷ However, implementation remains heterogeneous across states, with substantial differences in laboratory capacity, counselling services, referral pathways, and access to prenatal diagnosis.

The uptake of prenatal diagnosis and possible termination of pregnancy varies across India. In general, prenatal diagnosis is considered acceptable and has been practiced for several decades. Over a 30-year period, the National Institute of Immunohaematology in Mumbai provided prenatal diagnosis services to 3478 couples from across India; among these, 801 foetuses (23.0%) were diagnosed as affected, and all but three couples opted for termination of pregnancy.³⁷ Prenatal diagnosis is currently available in several centres throughout the country.³⁸ By contrast, in vitro fertilisation with preimplantation genetic testing remains of limited availability because of its high cost and the lack of financial support from most state governments. The limitations, costs, and success rates of these approaches should be clearly addressed during genetic counselling; however, the quality and consistency of counselling services outside major academic centres remain uncertain.

The central government issued national guidelines for the prevention and management of haemoglobin disorders in 2016; however, implementation has varied considerably across different regions of India.²⁷ Updated guidelines are now being prepared for release and, within the evolving socio-economic and cultural landscape of the country, may achieve broader implementation and impact.³⁹ Non-governmental organisations and patient advocacy groups have also played a major role in increasing awareness, supporting affected families, and promoting prevention strategies for haemoglobin disorders in India. Organisations such as Thalassemics India, the National Thalassemia Welfare Society (NTWS), the Thalassemia and Sickle Cell Society (TSCS), and the Federation of Indian Thalassemias (FIT), together with numerous regional parent support groups, regularly conduct awareness campaigns, carrier screening camps, educational programmes, counselling activities, and patient support initiatives. These organisations have also contributed substantially to advocacy efforts aimed at improving access to screening, prenatal diagnosis, blood transfusion services, iron chelation therapy, and curative treatment options across different parts of the country.

India currently lacks a national thalassaemia registry. However, recent digital health initiatives represent important progress toward structured national surveillance of haemoglobin disorders. These include the Indian Council of Medical Research (ICMR) National Rare Diseases Registry and Orphan Disease Information System (NRROID),⁴⁰ as well as the National Sickle Cell Portal launched under the National Sickle Cell Anaemia Elimination Mission.⁴¹ Although primarily designed for disease mapping, patient tracking, and care coordination, these initiatives may help generate real-time epidemiological data to better inform future screening and prevention strategies.

Indonesia

A prevention programme exists in Jakarta, with a policy for premarital screening and genetic counselling, based on a health technology assessment conducted by the Ministry of Health in 2011. Universal health coverage is also on offer since 2014. The prevention programme was later consolidated with the Decree of the Minister of Health No. HK.01.07/MENKES/1/2018 on National Guidelines for Medical Services (PNPK) for Thalassaemia Management. Although these policies for screening and genetic counselling are meant for the whole country, inhabitants of urban areas and large referral centres (e.g., Java, major cities) have better access to screening, diagnosis, and counselling. In contrast, people in remote rural areas have limitations in accessing laboratory expertise, trained personnel, and referral pathways. For instance in 2019 a TIF consultant visited the Aceh region and reported that “there is no screening currently in any form and the society is very mindful of the increasing number of patients. There is concern about the local government of Aceh understanding the seriousness of thalassaemia as a problem within the region”. This seems typical of several regions of the country.

Thus, existing initiatives remain fragmented across regions and are limited to specific target groups, such as prospective brides and grooms in Jakarta and pilot programmes in Bekasi Regency. Unequal enforcement, limited evaluation, and insufficient funding have also been described. Indonesia has yet to establish a unified national policy framework that incorporates thalassaemia prevention into health financing and reproductive health policies. Indonesia also does not have a national registry for thalassaemia carriers, although efforts are being made to integrate data through the SatuSehat national health platform developed by the Ministry of Health.⁴²

Prenatal diagnosis is not considered a practical or acceptable prevention strategy, especially since termination of pregnancy is not legally permitted beyond six weeks gestation. Indonesia also has a huge and diverse population, with many religious and cultural groups. Prenatal diagnosis is limited to specialised centres and is not free of charge.

A potential solution for premarital screening and prenatal diagnosis challenges would be early screening programmes targeting school-aged children and university students. Awareness of carrier status from an early age can encourage young individuals to make informed decisions regarding partner selection and to seek genetic counselling prior to having children.⁴³ A pilot early screening study targeting 16-year-olds in Jakarta, indicated that approximately 6% of students are carriers of β-thalassaemia. Building on these findings, practical guidelines for early thalassaemia detection are currently being developed. Early detection at primary health care facilities (FKTP) has been integrated with the national free health check (CKG) program in accordance with the implementation of the Decree of the Minister of Health. The target groups are preschool toddlers aged 2 years and schoolchildren in Grade 7 of junior high school. Examinations include haemoglobin testing and complete blood count testing conducted at FKTP and educational institutions.

The possibility of adopting a policy of horizontal family screening could also be considered. Consanguineous marriage is common in some areas but national data are lacking.^44,45 For example, general public screenings conducted between 2008 and 2017 revealed a carrier rate of 5.8%, while family (cascade) screenings indicated a carrier rate of 28.61%.⁴⁶

Despite the poor level of education in much of the population, public awareness programmes for thalassaemia prevention are carried out through a combination of government initiatives and strong support from civil society organisations, such as the Thalassaemia Movement and Yayasan Thalassaemia. The impression from these programmes is that the public is now generally aware of the need for prevention and early detection of carriers.^42,47,48

Laos

Thalassaemia is clearly recognised as a major public health and an economical burden in Laos, necessitating a tailored prevention and control strategy in view of the genetic heterogeneity.49, 50, 51 Prenatal diagnosis has very limited availability, but it seems to be acceptable to the population as well as termination of pregnancy (no religious or legal barriers). The National Strategy of Maternal and Child Health initiated mandatory antenatal clinic screening with amniocentesis with a reported coverage of 60%. This prevention strategy, however, does not cover the whole country at present and is mainly available in the capital Vientiane and some provincial hospitals. Premarital screening is still opportunistic. A national committee to develop a thalassaemia control and prevention programme is now active under the leadership of the Vice Minister of Health. The initial priority is promotion of public awareness. The other priority is training of obstetricians, paediatricians, nurses, and other allied health staff who are working in provincial hospitals in genetic counselling. A national registry is not yet established and no data are available on the effectiveness of prevention. Cooperation models between Laos and neighbouring Thailand to support screening programmes have also been successfully attempted.⁵²

Malaysia

A national prevention programme started with health promotion in 2004 and screening was added in 2005. It consists of premarital screening (offered, voluntary), antenatal screening (carried out as a secondary measure), and 16-year-olds screening at school since 2017, which is complemented by cascade screening of high-risk families (around 6% of marriages are consanguineous). Non-directive counselling is provided.

Prenatal diagnosis is offered in selected hospitals only, for example, in Kuala Lumpur only two hospitals have free of charge services. Another drawback is that many appear in the antenatal clinic after the 20th week of gestation and cannot benefit from prenatal diagnosis. Moreover, only about 28% of at-risk couples accept both prenatal testing and pregnancy termination; these come from the Christian and Buddhist communities.⁵³ A high rate of multiple affected children (∼19% of families) is observed and linked to low awareness of thalassaemia (13.9% of parents aware before the first child's birth), limited premarital screening (91.7% not aware of carrier status), and religious prohibitions regarding abortion.⁵⁴

In a recent study, it was concluded that public awareness and attitudes towards participation in screening remain unsatisfactory.⁵⁵ To increase acceptability, health awareness should include recommendations to improve understanding of what it means to be a carrier, correcting misconceptions, and importantly, revisiting and strengthening the cascade or family screening strategy at the community level. Community partnerships can also help raise awareness among the indigenous rural population.

A national patient registry was initiated in 2007 but reduction in affected birth rates has not yet been recorded.

Maldives

A national programme for awareness, screening, and counselling was introduced in the Maldives in 1992, targeting mainly high-school students and premarital couples. The Maldivian Blood Services (MBS), together with the thalassaemia association, has conducted educational activities and webinars primarily aimed at healthcare professionals, although public awareness efforts remain more limited.⁵⁶ One of the major challenges is the geographic dispersal of the population across distant islands and atolls, which complicates communication, access to services, and sample collection for screening. Consanguineous marriage rates are estimated at approximately 40%, while endogamy remains common within the small island communities.⁵⁷

Prenatal diagnosis is not currently available locally, although the necessary gynaecological and molecular infrastructure could potentially support such services. As a result, local prevention efforts continue to rely heavily on premarital screening and marriage avoidance.⁵⁸ Consequently, many couples travel abroad, particularly to India, for prenatal diagnosis. A religious Muslim fatwa permits termination of affected pregnancies within the first 120 days of gestation, and many couples accept this option. According to local data communicated to TIF, affected births were recorded in 2021, with annual numbers generally ranging from 5 to 20 cases; in the absence of prevention programmes, this number could theoretically reach approximately 50 affected births annually based on carrier prevalence estimates using the Hardy-Weinberg principle. These observations suggest a degree of effectiveness of the current prevention strategy.⁵⁹

In vitro fertilisation with preimplantation genetic testing is not currently available. The Maldives does have a national thalassaemia registration system, although it is more focused on patient registration and screening coordination than a comprehensive epidemiological registry comparable to some larger national databases. Notably, the development of a ‘10-Year Master Plan for Thalassemia Control and Prevention 2024–2034’ by MBS reflects growing governmental commitment, and the impact of these initiatives will need to be monitored in the coming years.

Myanmar

There are large regional differences in thalassaemia carrier rates, which also vary among the different ethnic groups of Myanmar. For instance, the carrier rate of haemoglobinopathy among the Shan ethnic group is reported as 17.3%, while among Kayin pregnant women it was 20.9%.^60,61 Thus, micromapping of gene frequencies is needed to inform future screening policies. A comprehensive nation-wide screening programme has not been developed yet. Thalassaemia is frequently not included among national priority diseases, and as a result, prevention and control programmes may be underrepresented in public health financing and human resource allocation. Moreover, experienced personnel in diagnosis and screening are limited. Molecular diagnostic facilities are only available at the National Health Laboratory but not at primary care and regional levels. Thus, structured population screening, genetic counselling, premarital counselling, and prenatal diagnosis remain largely unavailable. A national thalassaemia registry and networking between treatment centres and hospitals are also lacking.

Philippines

In a cohort of 111,127 Filipino newborns screened in California, 109 were confirmed to have a haemoglobin disorder, with haemoglobin H being predominant at a prevalence of 76.1 per 100,000 births.⁶² These data demonstrate a measurable burden of haemoglobinopathies in the Filipino population, although relatively lower than that reported in several neighbouring countries. Haemoglobin disorders are now included in the nationally mandated Expanded Newborn Screening (ENBS) programme and are implemented across accredited screening centres nationwide.⁶³ The Philippines therefore has an established national framework for secondary prevention through newborn screening. While ENBS enables early detection and referral, structured primary prevention strategies such as population-based carrier screening, coordinated premarital or antenatal screening, and systematic integration of genetic counselling into reproductive health services have not yet been implemented at scale. Consistent with comparative epidemiologic trends, no documented reduction in birth rates has been observed. Newborn screening provides an essential foundation for clinical care; however, its preventive impact is limited in the absence of upstream carrier identification and counselling pathways.

Screening efforts beyond ENBS remain largely institution-based and research-driven, primarily within tertiary centres. These initiatives, including molecular characterisation studies and targeted family screening, have contributed to improved understanding of the local mutation spectrum and supported clinical management.⁶⁴

Genetic counselling capacity is developing. The Philippine Society of Genetic Counsellors (PSGC) serves as the national professional organisation representing genetic counsellors and supports the development of standards and training in genetic counselling practice. Nevertheless, access to trained counsellors remains concentrated in urban centres, and integration into population-level screening and reproductive health services is still evolving.

To strengthen coordination, the Thalassaemia Action Network under the Philippine Society of Haematology and Blood Transfusion (TAN-PSHBT) has been established to align stakeholders and facilitate policy dialogue on prevention, screening, and counselling strategies appropriate to the national context. Parallel technical discussions are underway regarding a proposed national health insurance (PhilHealth) benefit package for thalassaemia to improve access to diagnostics and long-term care. These initiatives remain in the policy-development phase, and their impact will require future evaluation.

Singapore

The National Thalassaemia Registry (NTR) was established in 1992, with the aim of registering all Singaporeans with thalassaemia and other haemoglobinopathies (carriers and affected patients). In the latest published report from 2025, the NTR had 81,484 registrants, with 67% Chinese (54,700), 18% Malay (14,895), 6% Indian (4,575), and 9% other ethnicities (7,314), reflecting the ethnic distribution of Singapore.⁶⁵ The NTR provides government subsidised screening for all first-degree relatives and free non-directive genetic counselling to patients and their families with thalassaemia. The NTR played a key role in disease prevention – increasing public awareness, providing population-wide carrier screening (informed consent is required), and genetic counselling. So far, there have been largely positive responses to counselling managed through the NTR. The NTR has also developed workflows to enhance screening sensitivity among couples from ethnicities with a high prevalence of both α- and β-thalassaemia.⁶⁵ Antenatal screening and prenatal diagnosis for at-risk couples and preimplantation genetic diagnosis are available.

The effectiveness of the NTR is evident in national birth data. Over the past five years, the annual number of α-thalassaemia major births has remained consistently low, ranging from 0 to 2 cases. In parallel, β-thalassaemia major births have declined markedly over the years (Fig. 1).⁶⁵

Fig. 1.

Annual number of β-thalassaemia major births in Singapore. Data form the National Thalassaemia Registry, updated on 31 December 2025, courtesy of Dr. Hai Yang Law.⁶⁵

Sri Lanka

The Ministry of Health in Sri Lanka initiated a thalassaemia screening programme for school children and young adults in 2005. The programme is voluntary and based on the ‘Safe Marriages’ concept, making community awareness essential if reductions in affected births are to be achieved. However, one of the major limitations of the programme has been the lack of central coordination. Screening activities are conducted independently by individual hospitals, with limited national collation or oversight by the Ministry of Health, and no clear reduction in annual affected births was observed until 2012.⁶⁶ Limited prenatal diagnosis services are available through selected academic centres.⁶⁷ Consanguineous marriage rates in Sri Lanka are relatively low and are therefore unlikely to play a major role in the birth incidence or prevention of thalassaemia. Religion also does not appear to substantially influence informed reproductive decision-making in the country. However, termination of affected pregnancies remains legally restricted unless the mother’s life is at risk. As a result, prenatal diagnosis in Sri Lanka is often used more for reproductive information and counselling rather than as part of a comprehensive prevention strategy involving selective termination. In vitro fertilisation with preimplantation genetic testing is not currently available. Sri Lanka does not have a fully comprehensive standalone national thalassaemia registry, however, country does maintain nationally coordinated thalassaemia patient data through its centralized healthcare and transfusion systems.

Thailand

Thailand has a long-standing tradition of research and service development, establishing the country as a regional reference for thalassaemia prevention and care in Asia. The Ministry of Public Health implemented the Thalassaemia Prevention and Control Programme in 1992. The National Thalassaemia Action Plan (2007–2011) aimed to reduce the incidence of severe thalassaemia at birth and improve patients’ quality of life. Subsequently, the National Health Security Office (NHSO) introduced the Thalassaemia Prevention and Control in Pregnancy Programme during 2014–2016.⁶⁸

These national initiatives rely primarily on post-conceptional screening, reflecting the preference of Thai pregnant women for early gestational screening before 16 weeks. Under this programme, all pregnant women and their husbands are eligible for free thalassaemia screening, diagnostic testing, and prenatal diagnosis at government hospitals. The primary objective is to prevent the birth of children with severe thalassaemia syndromes, including Hb Bart’s hydrops fetalis, homozygous β-thalassaemia, and Haemoglobin E/β-thalassaemia. Couples identified as high risk are advised to undergo prenatal diagnosis, most commonly via amniocentesis. Genetic counselling is provided for high-risk couples, and pregnancy termination is offered before 24 weeks of gestation.⁶⁹

Analysis of programme implementation using Provincial Public Health Office data from six provinces (2016–2017) showed that 83.7–99.8% of newly registered pregnant women receiving antenatal care accessed thalassaemia screening. Among high-risk couples, 28.8–87.4% underwent prenatal diagnosis, and 34.6–100.0% of women carrying foetuses confirmed to have severe thalassaemia elected pregnancy termination.^68,70

National thalassaemia data have been systematically collected by NHSO since 2017 from government hospitals; however, data from private hospitals remain limited. National post-conceptional screening data from 2017 to 2025 indicate that more than 38,000 pregnant women were screened annually. High-risk couples were offered prenatal diagnosis, leading to the identification of approximately 200–400 foetuses affected by severe thalassaemia each year (Fig. 2).⁷¹

Fig. 2.

Post-conceptional screening for severe thalassaemia in Thailand 2017–2025 based on data from the National Health Security Office (NHSO) of Thailand.⁷¹ Abbreviations: PND, prenatal diagnosis.

Preimplantation genetic diagnosis provides an alternative to conventional prenatal diagnosis, enabling high-risk couples to have unaffected offspring without pregnancy termination. This approach involves selection of unaffected embryos before implantation. Since 2004, more than 60 preimplantation genetic diagnosis cycles have been performed in Thailand, resulting in at least 27 healthy live births.⁷² However, the growing migrant population from neighbouring countries, estimated at 2,424,490 individuals in 2018, poses additional challenges.⁴⁵ These populations are predominantly of reproductive age, experience barriers to accessing healthcare services, and may hold diverse views on pregnancy termination, complicating national thalassaemia prevention strategies.^73,74

The Thalassaemia Foundation of Thailand (TFT) was established in 1989 by clinicians, scientists, parents, and patients. The foundation aims to improve public and professional awareness of thalassaemia and to support research and patient advocacy. TFT also supports the Thalassaemia Club, which has more than 4500 active members, and collaborates with medical schools and the Ministry of Public Health to organise the Annual National Thalassaemia Conference for the past 20 years covering aspects on prevention and management.

Timor-Leste

Aside from 2021 data from the Global Burden of Disease (GBD) study which indicate a fall in the prevalence and deaths estimates for thalassaemia in Timor-Leste,^75,76 there are practically no available data on prevention related services or programmes.

Vietnam

The distribution of gene carriers and specific globin gene mutation characteristics varies significantly across different ethnic groups and geographic regions in Vietnam.⁷⁷ This epidemiological landscape poses substantial challenges for nationwide screening, diagnosis, and disease management. At present, Vietnam lacks a unified national program specifically dedicated to screening and prevention. Instead, activities such as screening, counselling, and management are integrated into local population health, reproductive health, and paediatric services. These efforts remain fragmented with lack of coordination between provinces and suffer from inconsistent resource allocation.

In 2021, the Prime Minister approved the National Target Programme for ethnic minorities and mountainous areas (2021–2030), a small part of which revolves around prevention and management of thalassaemia. However, implementation is still limited and only piloted in some provinces with screening of students. Public awareness also remains very low.⁷⁸

The Ministry of Health issued professional guidelines on antenatal screening and prenatal diagnosis of thalassaemia for pregnant women in 2020 and professional guidelines on premarital health check-ups that feature thalassaemia in 2025. However, the costs of antenatal screening and prenatal diagnosis of thalassaemia and premarital health check-ups are paid by the citizens. Current screening activities primarily focus on urban areas or families with a known history of the disease, leaving ethnic minority groups, who have the highest carrier rates, effectively underserved. Furthermore, even when screening is available, uptake is low; for instance, one study showed that out of 5372 pregnant women, only 63 chose to undergo genetic screening.⁷⁹

Prenatal and preimplantation genetic diagnoses are increasingly available at specialised centres in major cities; however, access is unequal. There is a shortage of personnel trained to international standards for genetic counselling, which impacts the quality of counselling. Under current Vietnamese law, medical termination of pregnancy is legal for severe genetic disorders including thalassaemia major. Social acceptance of termination is also relatively high.

Collective insights

A summary of prevention services and programmes in featured Asian countries is provided in Table 2.

Table 2.

Summary of the status of prevention services and programmes in featured Asian countries.

Country	National prevention program for thalassaemia	Premarital screening program for thalassaemia	Newborn screening program for thalassaemia	School screening program for thalassaemia	Prenatal diagnosis established	Pregnancy termination allowed	National thalassemia registry available
Brunei	No	No (but antenatal screening practiced)	No	No	Yes	Highly restricted (to save mother’s life)	No
Cambodia	No	No (but antenatal screening practiced)	No	No	Very limited/largely unavailable	Yes (general abortion law)	No
India	Fragmented	Variable/non-uniform (but antenatal screening practiced)	No	Limited/local initiatives	Yes	Yes	No (structured national surveillance digital initiatives emerging)
Indonesia	Fragmented	Yes (voluntary)	Limited (targeted child screening integrated into health checks)	Yes (pilot)	Limited (specialised and academic centres)	Highly restricted (>6 weeks generally not allowed)	No (data integration through national health platform)
Laos	Developing	Opportunistic (but mandatory antenatal screening practiced)	No	No	Limited	Yes	No
Malaysia	Yes	Yes (voluntary; antenatal screening secondary; cascade screening)	No	Yes (16-year-olds)	Yes (select hospitals)	Yes (uptake limited due to religious prohibitions)	Yes (Malaysia Thalassaemia Registry since 2007; drop in affected births not documented)
Maldives	Yes	Yes (voluntary)	No	Yes	Very limited/largely unavailable (seek abroad)	Yes (Islamic fatwa permits within 120 days)	Yes (drop in affected births unofficially reported)
Myanmar	No	No	No	No	Very limited/largely unavailable	Highly restricted (to save mother’s life)	No
Philippines	No	No	Yes (national programme)	No	Limited (specialised and academic centres)	Highly restricted (to save mother’s life)	No
Singapore	Yes	Population-wide carrier screening (free genetic counselling; antenatal screening for at-risk couples)	No	No	Yes	Yes	Yes (National Thalassaemia Registry since 1992; drop in affected births documented)
Sri Lanka	Fragmented (‘Safe Marriages’ approach)	Yes (voluntary)	No	Yes	Limited (specialised and academic centres)	Highly restricted (to save mother’s life)	Partial/coordinated national data collection but no formal standalone registry
Thailand	Yes	No (but antenatal screening practiced; focus on severe thalassaemia)	No	No	Yes	Yes (before 24 weeks)	Yes (National Health Security Office data collection system for pregnancy screening at government hospitals; drop in affected severe births documented)
Timor-Leste	No	No	No	No	Very limited/largely unavailable	Restricted (maternal health/life indications only)	No
Vietnam	Developing, Fragmented	No (but antenatal screening practiced)	No	No	Yes (variable application)	Yes (for severe genetic disorders including thalassaemia major)	No

Across featured countries from Asia, beyond the two very high-income countries—Brunei and Singapore—both Malaysia and Thailand and to a similar extent the Maldives, despite being classified lower in World Bank income rankings, demonstrate high human development index standings, substantial health expenditure per capita, and broad universal health coverage, reflecting a strong commitment to healthcare development. Other countries like Indonesia, Sri Lanka, and Vietnam appear to be progressing along a similar trajectory, although they have not yet fully achieved these benchmarks.

The adoption of prevention measures may also reflect the overall development of a country’s health system. This can be gauged through indicators such as infant and under-five mortality rates and life expectancy. Similarly, the availability of healthcare personnel and services plays a critical role in determining the quality of thalassaemia care.

Outside of Malaysia, the Maldives, Singapore, and Thailand, there is a notable lack of national registries and consistent reporting of country-level data on trends in affected birth rates across the region. Nevertheless, GBD estimates suggest that in countries with limited public awareness, screening programs, and reproductive support services for at-risk couples—such as Cambodia, Indonesia, Laos, Myanmar, the Philippines, and Sri Lanka—prevalence has increased over time. Conversely, declines in prevalence observed in some countries with otherwise limited prevention efforts, including Brunei, Timor-Leste, India, and Vietnam, may be attributable to other demographic factors, such as reductions in crude population birth rates and overall fertility (Appendix pp 3).^75,76

The high prevalence of thalassaemia across the region provides a strong motive for the development of effective prevention strategies aimed at reducing the number of affected births. Nationally controlled programmes which include services such as raising awareness, screening to identify carriers with selected target groups, genetic counselling services, and prenatal diagnosis are confined to Malaysia, the Maldives, Singapore, and Thailand. These strategies parallel good results in other healthcare services and a tendency for central government sensitivity to chronic health issues, despite sharing the prevalence of infectious and other diseases with neighbouring countries. Data to assess effectiveness of prevention are reported only by Singapore and to a lesser extent Thailand. Despite the efforts in other countries, a reduction in affected births cannot yet be fully demonstrated.

The second group of countries which includes India, Indonesia, Laos, Sri Lanka, and Vietnam have governmental attention but are slow in implementation of their programmes, and effectiveness of policies cannot be truly assessed. Persisting challenges in these and the remaining countries which hinder the implementation of prevention programmes include: (1) large, often hard-to-reach populations, with significant tribal, linguistic, cultural, and religious diversity (Appendix pp 4–5); (2) limited relevant epidemiological data, including gaps in carrier prevalence, micromapping, and the impact of migration on population dynamics; (3) absence of comprehensive policies or regulatory oversight in some countries and suboptimal implementation in others; (4) shortages in trained personnel and technical expertise across screening, molecular diagnostics, and genetic counselling; (5) a broad molecular spectrum of disease leading to variable clinical severity, which can complicate reproductive decision-making—particularly in the context of limited counselling and support; (6) low levels of public awareness and understanding of haemoglobin disorders and available screening options; (7) financial constraints resulting in significant out-of-pocket costs and insufficient investment in programme-wide infrastructure; (8) technological limitations; (9) religious and cultural factors influencing personal and reproductive choices; and (10) social considerations, including stigma and marriage practices. These factors along with limited resources in most settings are factors which limit the ability to efficiently apply the complex and quality services needed for prevention programmes as those seen applied in the Mediterranean and other locations. Potential solutions for these challenges are summarised in Table 3. Of note, although termination of pregnancy for severe foetal disorders such as thalassaemia remains a sensitive issue in many Muslim countries, several countries permit it based on Islamic legal opinions (fatwas) issued by religious scholars, as exemplified by the Maldives and other countries in Asia, although legal, ethical, financial, and awareness barriers continue to limit its uptake.⁸⁰

Table 3.

Potential approaches to address persisting challenges in thalassaemia prevention programmes.

Challenge	Potential solution/tactic
Large, hard-to-reach populations with tribal, linguistic, cultural, and religious diversity	•Decentralise screening through primary healthcare, schools, and mobile outreach clinics •Develop culturally tailored education and counselling materials in local languages and engage community leaders
Limited epidemiological data, carrier prevalence estimates, and micromapping	•Establish national registries and digital surveillance systems linked to screening programmes •Conduct targeted carrier prevalence studies and geographic micromapping in high-risk populations
Absence of comprehensive policies or weak implementation	•Develop national prevention strategies with clear targets, governance structures, and funding mechanisms •Integrate thalassaemia prevention into existing maternal, child health, and rare disease programmes
Shortages in trained personnel and technical expertise	•Establish regional centres of excellence and structured training programmes •Use telemedicine and hub-and-spoke models to extend specialist support to underserved areas
Broad molecular spectrum and variable clinical severity	•Expand access to molecular diagnostics and standardised genotype-phenotype interpretation tools •Strengthen genetic counselling services to support informed reproductive decision-making
Low public awareness and understanding	•Implement sustained national awareness campaigns through schools, social media, and community organisations •Incorporate carrier education into routine healthcare encounters and premarital or antenatal services
Financial constraints and out-of-pocket costs	•Include screening, counselling, prenatal diagnosis, and treatment within national health insurance schemes •Demonstrate long-term cost-effectiveness of prevention programmes to secure government investment
Technological limitations	•Invest in affordable molecular diagnostic platforms and laboratory networks •Adopt digital health tools for screening, data management, counselling, and patient tracking
Religious and cultural factors influencing reproductive choices	•Engage religious leaders and community stakeholders in programme design and public education •Ensure culturally sensitive, non-directive counselling that respects individual beliefs and preferences
Social considerations, including stigma and marriage practices	•Promote carrier status as a health characteristic rather than a social label •Provide confidential counselling and encourage family-based/cascade screening

Conclusion and call to action

The progress achieved in Singapore, and even more so in Malaysia, the Maldives, and Thailand, should serve as a model for neighbouring countries. While the resources required to implement thalassaemia prevention and control programmes may appear substantial, the long-term costs of treating affected patients are far greater. Governments should therefore view such programmes not only as economically sound investments but also as essential to improving outcomes for patients already living with the disease, who depend on sustained access to critical resources such as safe blood supplies and medications.

Contributors

All authors wrote the manuscript or critically reviewed it for content, and gave final approval of the manuscript for submission.

Declaration of interests

None.