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The life-threatening genetic blood disorder, thalassaemia, which causes decreased haemoglobin production, is preventable. Sociocultural determinants and the level of public health awareness must be used to adopt control measures of prevention. Identifying information gaps and educating the community about screening should be a priority, especially in areas with high disease burdens. A relevant health education technique, with which the audience can identify, can effectively bring understanding necessary effectively to sensitise the community. We propose the 'Bag and Ball' method, which includes role-play for health education specifically concerning inherited genetic disorders., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Thalassemia is a major health challenge in the United Arab Emirates (UAE), however previous studies have focused on genetics and molecular characterisation while neglecting culture and society. In this commentary, we discuss how tradition and religion in the UAE (e.g. consanguinity, endogamy, illegality of abortion and in vitro fertilisation, adoption restrictions), and limited academic research, affect the prevention and management of the blood disorder. It is suggested that changing attitudes towards traditional marriage practices, education and awareness campaigns targeting families and young people, and earlier genetic testing, are culturally acceptable solutions to curbing the high incidence of thalassemia in the UAE., (© The Author(s) 2023. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene.)

Thalassemia awareness among the youth is vital for policy- making to reduce the disease burden in our country. A descriptive cross-sectional study was conducted via simple random sampling technique for which data was collected from May 2020 to May 2021 through Google forms. Results showed that out of a total of 394 non-medical university students, the majority, i.e. 265 (67.3%), were not aware of prenatal screening. Majority, i.e. 117 (29.7%), agreed that the couple should be screened before marriage, and 190 (48.2%) strongly agreed, while 46 (11.7%) had no knowledge. Students, however, believed premarital screening was either unavailable, not possible, or expensive. Other reasons included custom and culture of arranged marriages and religious reasons. The query that if both the parents are carriers and the foetus has thalassemia major should they have an abortion, showed mixed results. The key to controlling thalassemia is awareness of future parents.

Thalassemia is humanity's most common genetic disorder and represents a serious healthcare challenge in the United Arab Emirates. Increasing awareness is a crucial part of any successful strategy to prevent thalassemia. This research examined knowledge levels and attitudes regarding thalassemia screening, counseling, and monitoring from medical and nonmedical students at Ajman University. This was a cross-sectional, descriptive study conducted among a convenience sample of Ajman university students in the UAE. A questionnaire was distributed which was composed of three main sections. The first section covered participants' demographic data. The second section covered general knowledge of thalassemia and its screening measures. The third section assessed risk factors, regulations, and preventive measures. The data were analyzed using the statistical package for social sciences (SPSS) version 24. A total of 523 participants completed the whole survey. Generally, there was a good level of awareness of thalassemia and thalassemia screening among participants. Approximately three-quarters of participants (76.5%) agreed that thalassemia screening should be compulsory for the individual and the majority of students and 92.7% recognized the importance of thalassemia screening for both partners. Approximately three-quarters (75.9%) of participants disagreed that fetuses with thalassemia should be aborted. More than half of the participants disagreed that thalassemia carriers and patients should be prevented from marrying each other. Generally, older respondents (final year students), respondents who had dealt with thalassemia patients, and respondents with relatives with thalassemia had more comprehensive knowledge of thalassemia. Campaigns focusing on college and university students should be regarded as an essential element of the thalassemia prevention strategy for contemporary UAE society., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Introduction: Thalassaemia is an inherited blood disorder, for which definitive treatments remain largely inaccessible. The recommended approach to reduce the disease burden is by prevention through screening. Currently, the implementation of thalassaemia preventive measures is poorly regulated in Indonesia. Thalassaemia prevention and education are best targeted to the youth, but information on their awareness towards thalassaemia is limited. This study aims to investigate the knowledge, attitude and practice (KAP) towards thalassaemia among Indonesian youth., Methods: This observational study took place between January and May 2021. An online questionnaire was disseminated to Indonesian youth aged 15-24. Eligible respondents included carriers, unaffected individuals and individuals with unknown carrier status. The questionnaire comprised 28 questions to assess KAP. A cut-off of 75% was used to categorise participant's KAP into poor or negative and good or positive. Descriptive statistics, χ 2 test, logistic regression and Pearson correlation were performed for data analysis., Results: A total of 906 responses were gathered, and 878 were analysed. Most respondents had poor knowledge (62.1%), positive attitude (83.3%) and poor practice (54.4%) towards thalassaemia. The results implied that respondents had limited understanding regarding the types of thalassaemia and the difference between asymptomatic carriers and individuals without the thalassaemia trait. Many (82.6%) believed they were not carrying thalassaemia trait despite the fact that most (95.7%) never got tested. Age, education, gender, residence and family income were key factors that correlated with or predicted the youth's KAP towards thalassaemia. Older respondents and women were more likely to have good KAP., Conclusion: Thalassaemia screening targeted to the youth is urgently needed, and future interventions must consider sociodemographic factors that may affect how they perceive the disease. Social media appeals to the youth as an important source of information, but school, parents and health professionals should also be involved in delivering education about thalassaemia., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Hemoglobinopathies are the most common monogenic disorders in humans; among them, thalassemia constitutes a serious medical and public health problem in high prevalence regions, in a geographical zone ranging from the Mediterranean Basin to China. In addition, migrations over the years have introduced thalassemia to many parts of the world. Although disease-specific programs are in place and accessible to most patients in prosperous countries, this is not the case in developing economies, where more than 75.0% of the patient population is born and lives; this concerns both prevention and treatment programs. In view of the significant improvements in public health and healthcare systems over the past few years, the Thalassemia International Federation has revisited the thalassemia prevention programs, initiatives and policies in some of its member countries, discussing their effectiveness and whether any changes in policy or public attitudes to thalassemia prevention have occurred through the recent years.

Objectives: Our aim was to describe the numbers and distribution of patients with different types of thalassemia and to assess the standards of care in all thalassemia treatment centers throughout Sri Lanka and the success of the ongoing prevention programme., Methods: This cross-sectional island-wide survey was conducted by two trained medical graduates, who visited each thalassemia center to collect data from every patient, using a standardized form. Data was collected through review of patient registers and clinical records., Results: We collected data on 1774 patients from 23 centers. 1219 patients (68.7%) had homozygous β-thalassemia, 360 patients (20.3%) had hemoglobin E β-thalassemia, and 50 patients (2%) had sickle β-thalassemia. There were unacceptably high serum ferritin levels in almost all centers. The annual number of births of patients with β-thalassaemia varied between 45-55, with little evidence of reduction over 19 years., Conclusions: Central coordination of the treatment and ultimately prevention of thalassemia is urgently needed in Sri Lanka. Development of expert centers with designated staff with sufficient resources will improve the quality of care and is preferred to managing patients in multiple small units., Competing Interests: The authors have declared that no competing interests exist.

Background: Thalassaemia is a public health burden in Malaysia and its prevention faces many challenges. In this study, we aimed to assess the effectiveness of a web-based educational module in improving knowledge and attitudes about thalassaemia prevention amongst Malaysian young adults., Methods: We designed an interactive web-based educational module in the Malay language wherein videos were combined with text and pictorial visual cues. Malaysians aged 18-40 years old who underwent the module had their knowledge and attitudes assessed at baseline, post-intervention and at 6-month follow-up using a selfadministered validated questionnaire., Results: Sixty-five participants: 47 Malays (72.3%), 15 Chinese (23.1%), three Indians (4.6%) underwent the module. Questionnaires were completed at baseline (n=65), postintervention (n=65) and at 6-month follow-up (n=60). Out of a total knowledge score of 21, significant changes were recorded across three time-points- median scores were 12 at pre-intervention, 19 at post-intervention and 16 at 6-month follow-up (p<0.001). Post-hoc testing comparing preintervention and 6-month follow-up scores showed significant retention of knowledge (p<0.001). Compared to baseline, attitudes at 6-month follow-up showed an increased acceptance for "marriage avoidance between carriers" (pre-intervention 20%, 6-month follow-up 48.3%, p<0.001) and "prenatal diagnosis" (pre-intervention 73.8%, 6-month follow-up 86.2%, p=0.008). Acceptance for selective termination however, remained low without significant change (pre-intervention 6.2%, 6-month follow-up 16.7%, p=0.109)., Conclusion: A web-based educational module appears effective in improving knowledge and attitudes towards thalassaemia prevention and its incorporation in thalassaemia prevention programs is potentially useful in Malaysia and countries with a high internet penetration rate.

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Therefore, the implementation of a national prevention program of the disease was an urgent necessity. Moreover, due to migration flow from different geographic areas in the last two decades, the observed spectrum of underlying mutations was expanded, leading to the adaptation of diagnostic approaches. We report the results of the National Thalassaemia Prevention Programme in Northern Greece, over a 15-year period (2001-2015). In total 33,837 healthy at-risk individuals (individuals or couples, 91.0% Greeks) were screened. We have screened 1598 pregnancies in 371 (23.0%) (10.0% non Greeks), of whom both parents carried gene defects and were offered genetic counseling. Seventy-six fetuses (23.0%) were predicted to be affected by severe forms of the disease. Following informed parental choices, 73 of the above pregnancies were terminated. Meanwhile, within the study period, 58 new thalassemic babies (five non Greeks) were referred to the Thalassaemia and Sickle Cell Disease Care Unit of Northern Greece, reflecting mostly parental unawareness, choice or the program failure. Based on the region's population, the birth rate and the prevalence of the disease, the anticipated number of new cases is about 45 annually. According to our data, four thalassemic newborns were registered annually at a stable rate in the last 15 years, reaching a reduction of 90.0% of new affected births. Overall, the National Thalassaemia Prevention Programme effectively decreased the incidence of affected newborns in our region.

This retrospective study analyzed 27 children with preventable severe thalassemia born to 24 at-risk couples between 1997 and 2017. The couples were categorized into two groups: the prenatal diagnosis (PND) group (n = 8) and the non PND group (n = 16). In the PND group, following comprehensive counseling on having a fetus with thalassemia, six couples decided to continue the pregnancy (n = 6). Termination of the two remaining fetuses was excluded as the thalassemia status was reported at a gestational age of 24 weeks. In the non PND group, medical errors were found in the misdiagnosis of couples as non thalassemia carriers (n = 4) and not offering PND to couples with known thalassemia carrier status when attending the antenatal clinic (ANC) (n = 2). Additionally, parental ignorance was found in parents experiencing their own thalassemia, or that of their spouse or child (n = 6). The remaining couples (n = 4) with known carrier status either directly refused PND or were ineligible for it. A total of five divorces (5/24 = 20.8%) occurred in the PND (n = 2) and the non PND (n = 3) groups. Knowledge, beliefs, religion, experience of thalassemia, as well as the sex of the at-risk fetus all influenced parental decisions. Therefore, both medical personnel and parents are key in preventing new cases of thalassemia. Parents should be aware of the consequences of having children with severe thalassemia, while medical personnel should provide accurate carrier detection and PND.

Objective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey., Materials and Methods: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%)., Results: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999., Conclusion: While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey.

Objective: To get preliminary data regarding the prevention of thalassaemia major in future generations., Methods: This Knowledge Attitude Practices study was conducted at Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from January to June 2016, using non-probability purposive sampling. Parents of children undergoing transfusion were interviewed. Questionnaires were used to collect demographics and data about awareness, attitude and frequency of screening among the first degree relatives of a thalassaemia major patient. SPSS 20 was used for data analysis., Results: Of the 270 respondents 240(88.9%) had utilised screening services for their asymptomatic children and had a positive attitude towards prevention, but 30(11.1%) families did not screen asymptomatic children for thalassaemia minor. Besides, 49(18.1%) families had more than one thalassaemia major child in their nuclear family, while, 3(1.1%) were unwilling to let their children undergo tests. Nine (3.3%) respondents said they will not ask a prospective daughter/son-in-law to get tested for thalassaemia minor, while 194(71.9%) respondents had had cousin marriages., Conclusions: There were significant gaps in awareness among affected families.

In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - - SEA and - - THAI deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1.07%) were identified, including 68 (0.16%) for β-thal, 162 (0.39%) for Hb Bart's (γ4) hydrops fetalis, 190 (0.46%) for deletional Hb H (β4) disease and 25 (0.06%) for nondeletional Hb H disease. Of the 455 at-risk couples, 90 were already pregnant and 66 underwent PND at 10-13 weeks' gestation, resulting in 15 affected fetuses. The remaining 355 at-risk couples were still preparing for pregnancy, and they were on the list for follow-up. There is considerable scope for facilitating timely PND through improved organization and screening strategy. The pre pregnancy screening is a feasible and effective approach to thalassemia prevention.

Introduction: Thalassemia screening program has been implemented for years in Southeast Asia, but no external quality assessment program has been established. We have developed and initiated the proficiency testing (PT) program for the first time in Thailand with the aim to assess the screening performance of laboratory staff and their competency in interpretation of the screening results., Materials and Methods: Three PT cycles per year were organized. From the first to the third cycle of the PT scheme, a total number of participant laboratories increased from 59 to 67. In each cycle, 2 PT items (assigned as blood samples of the couple) were provided. Performance evaluation was based on the accuracy of screening results, i.e . mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and the dichlorophenolindophenol (DCIP) test for haemoglobin E, including the competency in interpretation of screening results and assessment of foetal risk. Performance was assessed by comparing the participants' result against the assigned value., Results: Of all 3 cycles, most laboratories reported acceptable MCV and MCH values. From the first to the third cycle, incorrect DCIP test and misinterpretation rates were decreased while incorrect risk assessment varied by cycle to cycle. Combining the accuracy of thalassemia screening and the competency in interpretation and risk assessment, approximately half of participants showed excellent performance., Conclusion: Improved performance observed in many laboratories reflects the achievement and benefit of the PT program which should be regularly provided., Competing Interests: Potential conflict of interest: None declared.

Objective To evaluate the repercussions of recent changes to the cut-offs used in the first screening step of the pre-marital screening programme for thalassaemia prevention in Iran. Methods The profiles of 984 subjects referred to a genetic laboratory, and the tests of 242 parents of children with thalassaemia major were assessed for red blood cell (RBC) indices, haemoglobin (Hb) A2 levels and results of Hb electrophoresis. Results Of 407 suspected thalassaemia minor (STM) cases, 18 proved positive for thalassaemia minor on molecular analysis (18/407, confidence interval 2.6-6.9%). If the revised screening cut-offs had been used to determine who would undergo molecular analysis, two of these cases would not have been identified. Only 4.4% of suspected cases with lower than normal RBC indices (mean corpuscular volume <80 fl and mean corpuscular Hb <27 pg) and HbA2 (<3.5%) were diagnosed with thalassaemia minor. Conclusion The thalassaemia major prevention programme is performed in two separate steps. One step involves the screening of subjects and identification of β-thalassaemia minor, suspected cases for thalassaemia minor (STM), and normal subject groups. The other step concerns the identification of thalassaemia minor in the STM group. Changing the cut-offs at the first screening step does not result in significant improvement from an economic view, and is associated with significant risk at the second screening step.

The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during assisted reproductive treatment. PGD is a multi-step procedure that requires close collaboration between gynaecologists who are experts in assisted reproduction, embryologists who are experts in micromanipulation of germ cells and in embryo biopsy and geneticists who are experts in genetic analysis at the single-cell level. PGD can be applied as a form of early pre-natal diagnosis with the aim to establish a pregnancy unaffected by a haemoglobinopathy. In addition, PGD can identify embryos that are human leukocyte antigen compatible with an existing sibling affected by a haemoglobinopathy to support a haematopoietic stem cell transplantation. PGD has an advantage over conventional pre-natal diagnosis as it precludes the need to consider terminating an affected ongoing pregnancy. However, PGD is a multi-step, complex and costly procedure with an unpredictable outcome and thus is most suited for couples with an unsuccessful reproductive history or challenging reproductive status. In addition, PGD supports the cure of an affected child. Couples who decide to undergo a PGD cycle should be fully aware of the advantages and limitations. The three teams of health practitioners involved (gynaecologists, embryologists and geneticists) should thoroughly counsel the couples and provide support at all the stages: the initial evaluation of their genetic and reproductive status, all steps of assisted reproduction, embryo biopsy, genetic analysis and, when relevant, follow-up of pregnancy and baby(ies) delivered., (Copyright © 2016. Published by Elsevier Ltd.)

Thalassemia is a genetic blood disorder that causes abnormal hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen and is made of two proteins from four α-globin genes and two β-globin genes. A defect in one or more of these genes causes thalassemia. The treatment of thalassemia mostly depends on life-long blood transfusions and removal of excessive iron from the blood stream. Such tremendous blood consumption puts pressure on the national blood stock in many countries. In particular, in the United Arab Emirates (UAE), various forms of thalassemia prevention have been used and hence, the substantial reduction of the thalassemia major population has been achieved. However, the thalassemia carrier population still remains high, which leads to the potential increase in the thalassemia major population through carrier-carrier marriages. In this work, we investigate the long-term impact and efficacy of thalassemia prevention measures via mathematical modeling at a population level. To our best knowledge, this type of assessment has not been done before and there is no mathematical model that has investigated such a problem for thalassemia or any blood disorders at a population level. By using UAE data, we perform numerical simulations of our model and conduct sensitivity analysis of parameter values to see which parameter values affect most the dynamics of our model. We discover that the prevention measures can contribute to reduce the prevalence of the disease only in the short term but not eradicate the disease in the long term., Competing Interests: The authors have declared that no competing interests exist.

Background: Non-communicable diseases (NCDs) are of increasing concern in low- and middle-income countries (LMICs) affected humanitarian crises. Humanitarian agencies and governments are increasingly challenged with how to effectively tackle NCDs. Reviewing the evidence of interventions for NCDs in humanitarian crises can help guide future policies and research by identifying effective interventions and evidence gaps. The aim of this paper is to systematically review evidence on the effectiveness of interventions targeting NCDs during humanitarian crises in LMICs., Methods: A systematic review methodology was followed using PRISMA standards. Studies were selected on NCD interventions with civilian populations affected by humanitarian crises in low- and middle-income countries. Five bibliographic databases and a range of grey literature sources were searched. Descriptive analysis was applied and a quality assessment conducted using the Newcastle-Ottawa Quality Assessment Scale for observational studies and the Cochrane Risk of Bias Tool for experimental studies., Results: The search yielded 4919 references of which 8 studies met inclusion criteria. Seven of the 8 studies were observational, and one study was a non-blinded randomised-controlled trial. Diseases examined included hypertension, heart failure, diabetes mellitus, chronic kidney disease, thalassaemia, and arthritis. Study settings included locations in the Middle East, Eastern Europe, and South Asia. Interventions featuring disease-management protocols and/or cohort monitoring demonstrated the strongest evidence of effectiveness. No studies examined intervention costs. The quality of studies was limited, with a reliance on observational study designs, limited use of control groups, biases associated with missing data and inadequate patient-follow-up, and confounding was poorly addressed., Conclusions: The review highlights the extremely limited quantity and quality of evidence on this topic. Interventions that incorporate standardisation and facilitate patient follow-up appear beneficial. However, substantially more research is needed, including data on costs.

We evaluated population screening programs (1999-2011), conducted by the Thalassaemia Foundation, Kolkata, India, for the first time in Eastern India in different districts of West Bengal, for prevention of thalassemia comprising screening of heterozygotes and β-thalassemia intermedia (β-TI) cases [β(+), β(++), β(0)/β(+), β(E)/β(E) (codon 26 or HBB: c.79G > A), Hb-E-β-thalassemia (Hb E-β-thal)]. Among 18,166 cases, we found 2092 heterozygotes and 2245 β-TI individuals (who had no information about their disorders). Results were evaluated with standard hematological analyses including erythrocyte indices, hemoglobin (Hb) typing and quantification. Participants were divided into five groups (children, pre-marriage cases, pre-pregnancy cases, affected family members, pregnant women). The objectives of this evaluation were to fix cut-off values of red blood cells (RBCs), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), red blood cell distribution width (RDW) and Hb A2, as the standard World Health Organization (WHO) guidelines were not strictly followed in mass-scale screening programs. We have observed many dilemmas in considering the status of the thalassemia subject, due to presence of some other clinical conditions such as iron deficiency anemia, α-thalassemia (α-thal), δ-thalassemia (δ-thal), clinically silent Hb variants, and some cases of non hemoglobinopathies (such as pregnancy) along with thalassemia. The MCV values varied greatly in different conditions of hemoglobinopathies, whereas MCH provided a more stable measurement. We found an MCH value of <27.0 pg is a suitable cut-off point for screening in this population. Participants with an MCH of <27.0 pg should be investigated further to confirm or exclude a diagnosis of β-thal trait.

Thalassemias and hemoglobinopathies are a serious health problem in Turkey. There is a 70-year history of thalassemia in Turkey. The first patient with β-thalassemia major (β-TM) was reported in 1941. The first clinical and hematological studies were published by Aksoy in 1958. The overall incidence of β-thalassemia (β-thal) was reported by Çavdar and Arcasoy to be 2.1% in 1971. Important steps such as written regulations, education and prevention campaigns, have been taken to prevent thalassemia in Turkey by the Ministry of Health (MOH), the Turkish National Hemoglobinopathy Council (TNHC) and the Thalassemia Federation of Turkey (TFT) since 2000. A national hemoglobinopathy prevention program was started in provinces with a high prevalence by the MOH in 2003. While the percentage of premarital screening test was 30.0% of all couples in 2003, it reached 86.0% in 2013. While the number of newborn with thalassemias and hemoglobinopathies was 272 in 2002, it had dropped to 25 in 2010. There has been a 90.0% reduction of affected births in the last 10 years.

The aim of the present study was to report a 3-year experience on the prenatal control of Hb Bart's (γ4) disease in Mainland China. All pregnancies with fetal Hb Bart's disease were included from January 2011 to December 2013. The main clinical characteristics of the affected pregnancies were reviewed, including maternal reproductive history, prenatal care in the current pregnancy, the gestation of pregnancy at the time of booking, the gestation at the time of prenatal diagnosis (PND), and the complications associated with the pregnancy. A total of 246 cases of fetal Hb Bart's disease were identified during the study period; among these, 177 (72.0%) were diagnosed in early gestation (≤24 weeks), and 69 (28.0%) in late gestation. Most (87.0%) of the patients presenting in late pregnancy had late or no prenatal care. Twenty (29.0%) had major obstetrical complications in patients presenting in late pregnancy, and five (5.0%) in patients presenting in relatively early pregnancy. The delay in PND deprived couples of opportunities to make informed decisions early in pregnancy. Efforts for designing and targeting strategies to improve the timeliness of prenatal care are urgently needed.

β-Thalassemia major (β-TM) is an inherited disease and efforts have been made in several countries to reduce the number of affected births. In the present study, we aimed to evaluate the Iranian thalassemia prevention program, considered to be an important program in the region. The time period of the present study ranges from 2007-2009, during which new thalassemic births and the relevant causes were evaluated throughout the country. A cross-sectional analytical study was conducted at the Iranian Blood Transfusion Organization (IBTO), Tehran, Iran. A questionnaire was forwarded to all blood centers of the IBTO so as to obtain information about the new cases of thalassemia and the causes of these thalassemic births. Provincial thalassemia societies also received the questionnaires so that screening and prenatal diagnosis (PND) errors would be recorded. The results showed that 755 new thalassemia cases were born during 2007-2009 with the average fall in affected thalassemia births of 80.82%. The main cause of the new births was attributed to unregistered "timeless religious marriages" based on the conventions of the Sunni community which accounted for 43.17% of all new cases mainly having occurred in Sistan & Baluchestan Province. Not using PND was evaluated to be another main cause. Although the prevention program has led to a great reduction in thalassemic births, new measures are required, including research on how to make the program compatible with social and economic conventions and norms of Sistan & Baluchestan Province. The province of Kohgiluyeh Boyer Ahmad also needs to be revisited in terms of the program efficacy.

Thalassemia continues to be a major health burden. The chronicity of the disease and the high cost of life-long treatment make prevention strategies crucial in the management of this disease. In this article, we revisit different successful prevention strategies, and underline the Lebanese model. The Chronic Care Center (CCC), Beirut, is the only specialized center in Lebanon for the treatment and prevention of thalassemia. The current number of patients registered up to August 2013 was 724, representing cases from all over Lebanon. In 1994, the center launched a national prevention program following the World Health Organization (WHO) recommendations. The major activities of the program include awareness campaigns, screening for thalassemia carriers in the general population and high risk groups, registry of new cases and follow-up on the mandatory premarital law (established at the same time). Screening programs showed a carrier rate of around 2.3% in the general population, and 4.0-41.0% in high risk groups. The major pitfall in the law is that only persons with a mean corpuscular volume (MCV) of >70.0 fL are asked to perform further hemoglobin (Hb) testing. A significant decrease in the number of new cases of thalassemia patients in Lebanon reflects the efforts deployed in the prevention of the disease. However, some limitations are faced in reaching a complete eradication of the disease, mainly due to the fact that abortion is illegal and due to pitfalls and incorrect implementation of the premarital law.

Thalassemia is the most common monogenic inherited disease worldwide and it affects most countries to various extents. This review summarizes the current approaches to phenotypic and genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling and prenatal diagnosis are discussed. The importance of public education and an awareness of a changing perception regarding this group of diseases are emphasized. It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F).

Objective: The aim of the research was to determine effectiveness of the model for prenatal control in reducing new cases of severe thalassemia., Methods: Pregnant women at six tertiary centers were recruited to follow the model, consisting of (1) carrier screening using mean corpuscular volume (for alpha-thal-1 and beta-thal) and CMU-E screen (for HbE trait), (2) carrier diagnosis, (3) the couples at risk were counseled and offered prenatal diagnosis, and (4) termination of affected pregnancy. All neonates were evaluated for thalassemia., Results: Of the 12,874 recruited pregnancies, 7008 were valid for analysis. Of them, 281 couples were identified to be at risk, Of the 281, 58 affected fetuses were identified and 55 pregnancies were terminated, whereas three did not accept pregnancy termination. All 6727 neonates at no risk were proven to be unaffected. The model had sensitivity and positive predictive value of 100% and 20%, respectively. The model could detect all of affected fetuses., Conclusion: The model could prenatally identify affected fetuses with a detection rate and negative predictive value of 100%. The model was highly effective to prenatally detect affected fetuses with an acceptable false positive rate., (© 2013 John Wiley & Sons, Ltd.)

The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Variability of clinical severity can be attributable to interactions with α-thalassemia and mutations that increase fetal productions. Special methods that are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.

Thalassemia is one of the genetic diseases for which there are only a few successful prevention protocols. In this study, we aimed to analyze data for thalassemia newborns in a period of 6 years to find out the geographical distribution of cases, the "high-risk" provinces in Iran, the causes of thalassemia newborn cases, the coverage rate of the prevention programs and the limitations of the thalassemia registration system. To further our aim, an analytic cross-sectional study was designed at the Iranian Blood Transfusion Organization (IBTO), Tehran, Iran. A questionnaire was then prepared to gather data from each of the 30 provincial centers to find out the number and causes of thalassemia births. Furthermore, another questionnaire, to be completed by the physicians in charge, was aimed at gathering data from all 207 thalassemia care centers. We then performed a stratified analysis of the frequency of distributions; the associations among the existing variables were evaluated using the χ(2) or Fisher's exact tests at a 5.0% significance level. According to the findings, from 2001-2006, a total of 2091 thalassemia patients were born. The main causes were: the at-risk couples not using prenatal diagnosis (PND), marriages before the commencement of Iranian prevention plans, unregistered marriages based on religious conventions, among foreign citizens and the existence of some test errors. The causes of birth for 284 (13.6%) of new cases were not documented. There was a statistically significant difference between the five high-risk provinces regarding the proportional causes of thalassemia newborns [Pearson χ(2) = 4.549; degree of freedom (df) = 8, p value = 0.0001]. Although the plan succeeded in avoiding the annual birth of 826 new cases on average, there is continuing concern that more than 300 new cases were born every year during 2001-2006 and new prevention strategies need to be put into practice. It is highly recommended that focus be put on factors persistently causing the birth of new cases, especially in high-risk areas in which the success rates are lower than 50.0%.

Thalassemias are inherited blood disorders. In 2011, there was no clear situation regarding the number of thalassemia or other hemoglobinopathy patients in Romania. The luck of information has led to an increased number of patients registered by Fundeni Hospital, Bucharest in the last years. The main goal of this article is to underline the importance of implementing a screening program in Romania for thalassemia and other hemoglobinopathies, parallel with an awareness program. The importance of this objective is strongly supported by the following example: in Sardinia, thalassemia major was present in one out of 250 births, and has declined to one out of 4000 births after they implemented the screening program. The article is written by Monica Rosu, a participant to the World Wide Opportunities for Woman course, held in Canada, in 1999 and states one of the first results of thalassemia awareness in Romania with a positive impact on the patient's life, registering the following results: 2000: A website in Romanian language regarding thalassemias and addressed to patients was created. 2005: The Association of People with thalassemia major was founded and become member of Thalassemia International Federation. 2011: Thalassemia major patients from Romania have access to free treatment and the latest medical oral chelator, Exjade. The association participated in various meetings addressed to patients and doctors as well, created their own website, held workshops, fought together for an improved quality of life for themselves, for healthy people (possible thalassemia carriers) and for all Romanian children.

Haemoglobinopathies are the most common hereditary disorders in Greece. Although there is a successful national prevention program, established 35 years ago, there is lack of an official registry and collection of epidemiological data for haemoglobinopathies. This paper reports the results of the first National Registry for Haemoglobinopathies in Greece (NRHG), recently organized by the Greek Society of Haematology. NRHG records all patients affected by thalassaemia major (TM), thalassaemia intermedia (TI), "H" Haemoglobinopathy (HH) and sickle cell disease (SCD). Moreover, data about the annual rate of new affected births along with deaths, between 2000 and 2010, are reported. A total of 4,506 patients are registered all over the country while the number of affected newborns was significantly decreased during the last 3 years. Main causes for still having affected births are: (1) lack of medical care due to financial reasons or low educational level; (2) unawareness of time limitations for prenatal diagnosis (PD); due either to obstetricians' malpractice or to delayed demand of medical care of couples at risk; and (3) religious, social or bioethical reasons. Cardiac and liver disorders consist main causes for deaths while life expectancy of patients lengthened after 2005 (p < 0.01). The NRHG of patients affected by haemoglobinopathies in Greece provides useful data about the haemoglobinopathies in the Greek population and confirms the efficacy of the National Thalassaemia Prevention Program on impressively decreasing the incidence of TM and sickle cell syndromes.

The first case of thalassaemia, described in a non-Mediterranean person, was from India. Subsequently, cases of thalassaemia were documented in all parts of India. Centres for care of thalassaemics were started in the mid-1970s in Mumbai and Delhi, and then in other cities. The parent's associations, with the help of International Thalassemia Federation, greatly helped in improving the care of thalassaemics. Obtaining blood for transfusion was difficult, but the Indian Red Cross Society and the parent's associations played a crucial role in arranging voluntary donations of blood. Chelation with deferoxamine was used sparingly due to the high cost. The Indian physicians conducted trials with deferiprone, and the drug was first approved and marketed in India. Deferasirox is also now being administered. Studies of physical and pubertal growth documented significant retardation, suggesting that generally patients receive inadequate chelation and transfusions. Bone marrow transplantation is available at a number of centres, and cord blood stem cell storage facilities have been established. Information about mutations in different parts of India is available, and ThalInd, an Indian database has been set up. There is a need to set up preimplantation genetic diagnosis and non-invasive prenatal diagnosis. It is argued that too much emphasis should not be placed on premarital screening. The focus should be on screening pregnant women to yield immediate results in reducing the burden of this disorder. Care of thalassaemia has been included in the 12 th 5-year Plan of the Government of India. Many States now provide blood transfusions and chelation free of cost. Although inadequacies in care of thalassaemia remain, but the outlook is bright, and the stage is set for initiating a control programme in the high risk States.

At present, prevention of thalassaemia and sickle cell disease is the only realistic approach to control the birth of new patients in countries having high numbers of carriers. This is fully justified because avoiding the birth of an ever increasing number of patients may allow a more effective use of the available resources in improving the management of the patients surviving today and alleviate the already overloaded public health system from the inevitable tremendous and ever increasing cost. Moreover, prenatal diagnosis may help couples at risk to have non-thalassaemic children. Greece is one of the countries where the mean frequency of carriers is approximately 7.5 per cent (population 11 million) and has set up a nationwide programme for carrier identification in the early seventies; this is provided through a dozen of specific Units attached to the major Blood Transfusion Services of the country, on a voluntary basis and free of charge. Spread of information through mass media, the schools, and other groups has greatly contributed in creating the necessary sensitization; obstetricians and antenatal Clinics are also instrumental to this effect. Prenatal diagnosis is offered centrally (Athens) and covers satisfactorily the estimated needs (500-600 annually); the total number has already exceeded 35,000. According to information obtained from the major paediatric hospitals all over the country, the number of thalassaemia major or SCD admitted for treatment over the last ten years has been around 15 yearly (instead of an estimate of 120-130).

Objective: To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system., Methods: Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou., Results: The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions. A total of 10 695 families participated in thalassemia screening and 16 thalassemia major fetuses were diagnosed in the last two years. No one was thalassemia major in the 8360 newborn., Conclusion: Thalassemia population intervention model was set up relying on family planning service system and it significantly decreased the birth of thalassemia major.

Hemoglobin (Hb) gene disorders are common inherited diseases in Taiwan. The α- and β-thalassemias are among the well-known Hb diseases in this area. We reviewed abnormal hematological data in 3578 cases, identified between 1998 and 2009, as being at-risk for α-thalassemia (α-thal) (n = 1909; 53.3%), β-thal (n = 743; 20.8%), non-α, β-thal (n = 872; 24.4%), and α-thal combined with β-thal (n = 54; 1.5%), and collected fetal blood samples for prenatal testing. The most common types of α(0)- and α(+)-thal were the SEA (Southeast Asian) deletion and the -α(3.7) rightward deletion, with frequencies of 87.79 and 4.85%, respectively. The frequency of the IVS-II-654 (C>T) mutation, the most common β-thal mutation in this region, was 38.6%. Hb E [β26(B8)Glu→Lys, GAG>AAG] was found to be the most common Hb variant, and it was concluded that Hb Tak [β147 (+AC)], Hb G -Taichung (also known as Hb Q-Thailand) [α74(EF3)Asp→His, GAC>CAC (α1)], Hb Owari [α121(H4)Val→Met (GTG>ATG)], and Hb Phnom Penh [α117(GH5)Phe-Ile-α118(H1)Thr (α1)] were very rare. The results of this study provide a primary reference for designing a locally relevant antenatal diagnostic test for controlling the spread of thalassemia.

Objective: To demonstrate the performance of thalassemia prevention in northeast Thailand during 1993-2008., Methods: Retrospective data from 1422 at-risk couples who attended from January 1993 to December 2008 were studied. All couples were suspected at-risk couples based on initial screening using standard protocols. Three thalassemia carrier types including alpha(0)-thalassemia, beta-thalassemia and hemoglobin E were identified using standard methods. Data on prenatal diagnosis were collected., Results: Of the 1422 positive-screened couples, 1254 (88.2%) were diagnosed as true-positive couples. After DNA analysis, 968 of 1254 (77.2%) resulted at risk for three types of severe conditions being hemoglobin E-beta-thalassemia disease (640/968, 66.1%), homozygous alpha(0)-thalassemia (304/968, 31.4%) and homozygous beta-thalassemia (11/968, 1.1%). The remaining 1.3% of the couples were at risk for more than one disease. After genetic counseling, prenatal diagnosis was performed on 756 couples (78.1%). The proportions of affected fetuses, thalassemia carriers and unaffected fetuses were 26.9, 50.0 and 23.0%, respectively., Conclusion: Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in northeast Thailand and a large number of severe thalassemia diseases have been prevented during the past 16 years of operation.

Background: Haemoglobinopathies are the most inherited disorders worldwide including Saudi Arabia which can be preventable with application of screening programmers. Ministry of Health in Saudi Arabia had initiated premarital screening program (PMS) in all country regions., Methods: The aim of this study was to explore the impact of the PMS program and genetic counseling on couples at risk for thalassaemia and sickle cell anima in an area of the country with high hemoglobinopathy prevalence. A total of 129 candidates identified by PMS to be at risk were included., Results: Out of this cohort, 98% proceeded with marriage. Culture pressure was the main reason in more than 48%. Over a period of 4 years, these marriages resulted in 15 diseased children. Although most of the candidates did not receive genetic counseling yet, the concept of genetic counseling was liked by most of them., Conclusion: This study showed some early benefits of the PMS in prevention of the targeted diseases and the program helped in early detection of the disease in their offspring.

Despite recent advances in understanding the pathophysiologic mechanisms behind the thalassemia intermedia (TI) phenotype, data on the effects of treatment are deficient. To provide such data, we evaluated 584 TI patients for the associations between patient and disease characteristics, treatment received, and the rate of complications. The most common disease-related complications were osteoporosis, extramedullary hematopoeisis (EMH), hypogonadism, and cholelithiasis, followed by thrombosis, pulmonary hypertension (PHT), abnormal liver function, and leg ulcers. Hypothyroidism, heart failure, and diabetes mellitus were less frequently observed. On multivariate analysis, older age and splenectomy were independently associated with an increased risk of most disease-related complications. Transfusion therapy was protective for thrombosis, EMH, PHT, heart failure, cholelithiasis, and leg ulcers. However, transfusion therapy was associated with an increased risk of endocrinopathy. Iron chelation therapy was in turn protective for endocrinopathy and PHT. Hydroxyurea treatment was associated with an increased risk of hypogonadism yet was protective for EMH, PHT, leg ulcers, hypothyroidism, and osteoporosis. Attention should be paid to the impact of age on complications in TI, and the beneficial role of splenectomy deserves revisiting. This study provides evidence that calls for prospective evaluation of the roles of transfusion, iron chelation, and hydroxyurea therapy in TI patients.

The hemoglobin disorders are the most common clinically serious single gene disorders in the world. In Egypt, beta-thalassemia is the most common type with a carrier rate varying from 5.3 to > or =9% and a gene frequency of 0.03. So, it was estimated that 1,000/1.5 million per year live births will suffer from thalassemia disease in Egypt (total live births 1,936,205 in 2006). beta-Thalassemia creates a social and financial burden for the patients' family and the Egyptian government. The high frequency of beta-thalassemia carriers with increasing rate of newly born cases is a pressing reason for the importance to develop prevention program for beta-thalassemia in Egypt. Sickle-cell disease (SCD) is not frequent in Egypt except in the Oases where the carrier rate varies from 9 to 22%. Our objectives were to provide an in-depth analysis of the current status of hemoglobinopathies in Egypt and what we need for prevention of these diseases.

Background: There is limited evidence regarding the factors that facilitate recruitment and retention of general practices in clinical trials. It is therefore pertinent to consider the factors that facilitate research in primary care., Aim: To formulate hypotheses about effective ways of recruiting and retaining practices to clinical trials, based on a case study., Design of Study: Case study of practice recruitment and retention to a trial of delivering antenatal sickle cell and thalassaemia screening., Setting: Two UK primary care trusts with 123 practices, with a high incidence of sickle cell and thalassaemia, and high levels of social deprivation., Method: Practices were invited to take part in the trial using a research information sheet for practices. Invitations were sent to all practice managers, GPs, practice nurses, and nurse practitioners. Expenses of approximately pound 3000 per practice were available. Practices and the research team signed research activity agreements, detailing a payment schedule based on deliverables. Semi-structured interviews were completed with 20 GPs who participated in the trial. Outcome measures were the number of practices recruited to, and completing, the trial., Results: Four practices did not agree to randomisation and were excluded. Of 119 eligible practices, 29 expressed an interest in participation. Two practices withdrew from the trial and 27 participated (two hosted pilot studies and 25 completed the trial), giving a retention rate of 93% (27/29). The 27 participating practices did not differ from non-participating practices in list size, number of GPs, social deprivation, or minority ethnic group composition of the practice population., Conclusion: Three factors appeared important in recruiting practices: research topic, invitation method, and interest in research. Three factors appeared important in retaining practices: good communication, easy data-collection methods, and payment upon meeting pre-agreed targets. The effectiveness of these factors at facilitating recruitment and retention requires assessment in experimental studies.