A proposed methodology of health education for inherited genetic disorders: Bag and Ball technique.

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.

Comparison Of Knowledge Among Millennials Studying In Non-Medical Universities Regarding Premarital And Prenatal Thalassemia Screening Policies In Pakistan.

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.

Combatting thalassemia in the United Arab Emirates.

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 battle against Thalassemia in Pakistan: Way to move forward.

Thalassemia, one of the most common genetic hemoglobinopathy, is yet still an economy-depriving disorder, prevalent throughout the world. Specifically in Pakistan, numerous factors have led to the ever-increasing numbers of the affected masses. Amidst its battle with other diseases, it is worthy to highlight that the country did not overlook this disorder and hence, significant work has been done to change the thalassemia status of the country. From the establishment of reforms to private philanthropic organizations, Pakistan is actively fighting against the disorder. However, some more practical working and well-devised planning can help the country, attain a thalassemic-free status.

Exploring the Gap Between Knowledge and Behavior Regarding Thalassemia Among University Students: A Cross-Sectional Study in the United Arab Emirates.

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.

Cross-sectional study on knowledge, attitude and practice towards thalassaemia among Indonesian youth.

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, χ2 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.

The Prevention of Thalassemia Revisited: A Historical and Ethical Perspective by the Thalassemia International Federation.

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.

A nationwide survey of hospital-based thalassemia patients and standards of care and a preliminary assessment of the national prevention program in Sri Lanka.

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 ß-thalassemia, 360 patients (20.3%) had hemoglobin E ß-thalassemia, and 50 patients (2%) had sickle ß-thalassemia. There were unacceptably high serum ferritin levels in almost all centers. The annual number of births of patients with ß-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.

A web-based educational intervention module to improve knowledge and attitudes towards thalassaemia prevention in Malaysian young adults.

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.

Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.

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.

Preventable Severe Thalassemia among Children.

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.

Frequency of carrier screening and preventive orientation among first degree relatives of Thalassaemia patients.

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.

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention.

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 ß-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 ß-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.

Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program.

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 ß-thalassemia (ß-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 ß-thal, 162 (0.39%) for Hb Bart's (γ4) hydrops fetalis, 190 (0.46%) for deletional Hb H (ß4) 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.

Evaluation of staff performance and interpretation of the screening program for prevention of thalassemia.

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.

Thalassemia in the United Arab Emirates: Why it can be prevented but not eradicated.

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 ß-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.

Pre-implantation genetic diagnosis.

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.

The pros and cons of the fourth revision of thalassaemia screening programme in Iran.

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 ß-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.