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Background and Objectives: Hemoglobinopathies are genetic disorders of hemoglobin and are among the most common inherited diseases. The prevalence rates of sickle cell disease and thalassemia in Saudi Arabia are higher than those in other countries in the Middle East. Saudi Arabia has launched many prevention programs such as a premarital screening program, genetic counseling programs, and neonatal screening in order to reduce the incidence of genetic diseases. The former program includes the most common genetic diseases: sickle cell disease and thalassemia. Many studies conducted since the premarital program started have reported a decrease in the prevalence of sickle cell disease and thalassemia. However, all studies focus on large cities, including their subdivisions, but there is a lack of studies on subdivisions specifically. Materials and Methods: The aim of this study was to assess the prevalence, 5-year time trend, and distribution of β-thalassemia and sickle cell traits in Al-Kharj province using the data of the PMSGC program during the period from January 2017 to February 2021. Results: A total of 21,150 individuals were screened, and 508 were diagnosed with sickle cell disease and thalassemia. Also, we showed that thalassemia was more prevalent than sickle cell disease (66% and 34%, respectively), and there was an increase in β-thalassemia and α-thalassemia. Conclusions: Riyadh city’s prevalence rate of β-thalassemia was reported as 7 per 1000, while the current study found a prevalence rate of 5.6 per 1000 in Al-Kharj, which suggests a possible increase as a result of population growth in Al-Kharj province as part of Riyadh city. This study recommends further improvement in preventive measures in high-risk regions, as well as enhanced community awareness, to provide the highest rate of reduction for disorders.

Familial Mediterranean fever (FMF) stands as a significant challenge within Jordan's clinical practice, despite its low prevalence of 0.04% within the Jordanian population. This study aims to investigate the current status of the health status of FMF patients in Jordan while exploring any present associations between chronic diseases and the severity of their symptoms. This is a cross-sectional descriptive survey-based study conducted during the period between 1st of March till the last of May 2023 in Jordan. The survey was distributed randomly to a group of FMF patients, Sample size was based on FMF prevalence in Jordan (0.04%); study sample ( = 67) included FMF patients in Jordan from different age groups. All results were performed through proper statistical analysis. The study includes 67 FMF patients, predominantly Jordanian and aged 18-31, revealed that 58.2% only were diagnosed through blood genetic testing. Marriages among first-degree relatives showed a 60% probability of FMF transmission compared to 10% in non-related parents ( = 0.001), leading 82.1% of participants to call for pre-marital testing. Acute symptoms included abdominal pain, fever, arthralgia, and myalgia, with hypertension being the most frequent comorbidity (14.9%) and significantly associated with myalgia and arthralgia ( < 0.05). Colchicine was the primary treatment for 89.6% of patients, with high adherence rates (90.3%). Among chronic comorbidities, hypertension was associated in increasing the severity of the myalgia during attacks. The issue of misdiagnosis remains a major challenge in Jordanian clinical practice. Our findings assert the importance of future incorporation of FMF premarital testing.

The prevalence of consanguineous marriages (CMs) varies worldwide from one country to another. However, the Middle East stands out as a region with a notably high rate of CMs. CM is particularly widespread in Saudi Arabia, where the prevalence of autosomal recessive genetic diseases has increased. This study aims to identify the Saudi population’s awareness of genetic diseases and premarital screening tests (PMSTs). It also seeks to understand couples’ perceptions of genetic diseases before and after marriage and their attitudes towards PMSTs and genetic counselling (GC) in reducing the risk of CM. Through the administration of online questionnaires, this cross-sectional study surveyed 2,057 participants to assess their awareness of genetic diseases and their understanding of testing and preventive measures for inherited diseases. Descriptive analysis, nonparametric chi-square tests and logistic regressions were performed to assess the association of categorical responses. This study included 2,035 Saudi Arabian respondents. A significant correlation was found between positive family history and partner selection ( p  = 0.001), as well as between partnering within the same tribe ( p  = 0.000139), with a different tribe ( p  = 0.000138) and from another family ( p  = 0.000489). About 91.3% of participants expressed agreement regarding the need to enhance public awareness and knowledge concerning genetic disorders, while 87% agreed that increased government regulations are required to prevent the spread of genetic diseases in affected families. Despite increased awareness of genetic diseases and PMSTs, there appears to be a lack of understanding regarding the limitations of PMSTs. The persistently high rate of CM underscores the challenge of altering marriage customs. Further governmental efforts are required to promote awareness of alternative reproductive options, establish new regulations and expand screening programmes.

Premarital screening (PMS) is a primary preventive measure to decrease the incidence of certain genetic disorders and sexually transmitted diseases. This study aimed to explore the knowledge and perception of and the attitude toward PMS and predictors of knowledge and attitude. A cross-sectional study was conducted among Qatar University students using an online survey. Multivariable regression analyses were used to identify factors associated with PMS knowledge and attitude. A total of 476 students participated in the study; 424 (89.1%) were females; two-thirds were 18–21 years old. Only 100 participants had heard about PMS. Knowledge of PMS was significantly associated with females, students enrolled in a health-related college, and non-consanguineous marriage of a participant’s parents. The majority of the participants agreed that genetic diseases are psychological and economic burdens. For attitude, only 178 participants were willing to cancel marriages, given incompatible PMS results. The following factors were positively associated with attitude: PMS knowledge, enrollment in a health-related college, and the belief that PMS does not interfere with destiny. Our study findings revealed that despite the mandatory PMS in Qatar, the study participants, future couples, had low knowledge about the program. Therefore, strategies to increase awareness of PMS should be considered toward improving its outcomes.

Thalassemia poses a major public health concern in Bangladesh with a high prevalence of carriers. However, there is a substantial knowledge gap regarding its epidemiology, clinical aspects, and treatment outcomes. Despite its high prevalence, there is a notable lack of awareness regarding thalassemia in the Bangladeshi population. The absence of precisely validated data impedes a comprehensive understanding of this disease. Premarital thalassemia screening is reportedly a successful strategy for countries such as Saudi Arabia and Iran and has also been proposed for Bangladesh. Mandatory screening coupled with genetic counseling is promising for reducing the prevalence of thalassemia by identifying carriers and providing relevant health education. However, sociocultural barriers, challenges, financial constraints, and health risks associated with prenatal diagnosis and abortion could hinder the success of such programs. Positive outcomes from other countries underscore the effectiveness of such programs in reducing thalassemia incidence. The early identification of carriers and genetic counseling can significantly reduce the burden of thalassemia. Additionally, the strain on the healthcare system would be eased, and the quality of life of thalassemia patients would be improved. In conclusion, based on evidence mandatory premarital screening with genetic counseling could be an effective measure to reduce the prevalence of thalassemia in Bangladesh. Leveraging positive attitudes, adopting successful international models, and addressing existing challenges are crucial for the successful implementation of programs that contribute to the overall health and well-being of the country’s population.

The prevalence rates of β-thalassemia (β-thal) and Sickle Cell Disease (SCD) in Saudi Arabia are considered one of the highest compared to surrounding countries in the Middle East (0.05% and 4.50%, respectively). In this study, Secondary data analysis was obtained from the premarital screening and genetic counseling program (PMSGC), and included 12,30,582 individuals from February 2011 to December 2015. Prevalence rates (per 1000 population) for β-thal and SCD were calculated for carrier status, disease status and their combination. During the 5-year study period, the overall prevalence rate per 1000 population for β-thal was 13.6 (12.9 for the trait and 0.7 for the disease). The prevalence rate for SCD was 49.6 (45.8 for the trait and 3.8 for the disease). Rates for β-thal were found to decrease from 24.2 in 2011, to 12 in 2015. However, SCD rates remained rather constant and ranged from 42.3 in 2011 to 49.8 in 2015. The highest rate for both β-thal and SCD was observed in the Eastern and Southern regions. This result reflects major accomplishment of the PMSGC. This study recommends further improvement in preventive measures in high-risk regions, and enhanced community awareness to provide the highest rate reduction for these disorders.

Background Premarital screening (PMS) programs are a crucial measure to prevent hereditary and sexually transmitted diseases, particularly in communities with high consanguinity levels and genetic disorder prevalence. Premarital training is not well-researched in Bangladesh, where thalassemia and hemoglobinopathies are endemic. This study aimed to assess the knowledge, attitude, and perception (KAP) regarding PMS among undergraduate students in southeastern Bangladesh. Methods An analytical cross-sectional study was conducted among 844 undergraduate students from four universities in Chattogram, Bangladesh. A multistage cluster sampling method was used to recruit participants from science, business, and humanities disciplines. Data were collected through face-to-face interviews using a structured questionnaire, which assessed sociodemographic characteristics and KAP towards PMS. Descriptive statistics and multivariate logistic regression analyses were performed using STATA SE 18. Adjusted odds ratios (AORs) with 95% confidence intervals (CIs) were reported, and a p-value < 0.05 was considered statistically significant. Results Out of 844 students, only 22.5% students had a good knowledge, while attitudes (89.2%) and perceptions (95.7%) toward PMS were highly positive. In multivariate analysis, science students were significantly more likely to have good knowledge than humanities students (AOR = 1.67; 95% CI: 1.14–2.45; p  = 0.009). Conversely, females (AOR = 0.61; 95% CI: 0.43–0.87; p  = 0.006) and those with consanguineous parents (AOR = 0.64; 95% CI: 0.42–0.99; p  = 0.043) were less likely to demonstrate good knowledge. No significant associations were observed between age group, academic year, family history of hereditary disease, and attitudes after adjustment for factors. Conclusion Undergraduate students in southeastern Bangladesh exhibited poor knowledge but positive attitudes and perceptions toward PMS. Incorporation of premarital training modules into university curricula, as well as media- and community-based programs, may increase knowledge and promote preventive health behaviors.

Background Premarital screening (PMS) programs have been increasingly implemented in various countries due to their potential to reduce the incidence of genetic conditions. In Qatar, a PMS program has been in place as a mandatory prerequisite for marriage since 2009 and its outcomes have not been explored. Aim To assess the outcomes of the national premarital screening for cystic fibrosis (CF), Homocystinuria (HCU), and Spinal Muscular Atrophy (SMA) in Qatar and to provide insights and guide program’s improvements. Methods A retrospective population-based study on the PMS testing results for CF, HCU and SMA from 2009 to 2023. Results A total of 75,767 tests were initiated within this period with 99% of samples belonging to nationals. Testing for CF (47%) and HCU (48%) was similarly high compared to SMA which was significantly lower (5%), consistent with SMA’s optional screening status. The most common age at marriage was 20–30 years for females and 31–40 years for males. Carrier rates were highest for SMA (4.47%), followed by HCU (2.06%) and CF (1.46%). Among high-risk couples, 43.5% were positive for SMA, 30.5% for HCU, and 25.9% for CF. Consanguinity was reported in 46% of high-risk couples (where data was available) and was significantly associated with a higher likelihood of positive results ( p  < 0.001). More than half (53.6%) of high-risk couples continued with marriage. Among those, 85.2% had no affected children reported. Use of reproductive assistance with genetic testing was observed in 35.7% of positive couples, while 21.4% did not use it. Importantly, use of such technology was significantly associated with a reduced incidence of affected children ( P  = 0.024). Conclusion Qatar’s PMS program was effective in reducing the incidence of the specified conditions. However, the absence of affected children among high-risk couples may be influenced by various factors. Therefore, while the results are encouraging, they should be interpreted with caution. Our findings highlight the need for enhanced risk counseling after positive results, and the need for public educational campaigns on the importance of premarital testing, the potential risks associated with consanguinity and the availability of reproductive technologies that may be utilized as a preventative option.

This study investigates the knowledge and attitudes of Saudi men on premarital screening, 19 years after its implementation. A cohort of 133 males was examined. Out of the 133 male screening participants, a significant majority of 126 individuals (94.7%) were found to be aware of the premarital screening program. A smaller number of individuals (88, 66.2%) were aware of the conditions detected by the screening. A disagreement developed on the legality of marriage in the event of an adverse test result. Many participants stated that the primary purpose of the premarital screening program was to lessen the social and familial burdens associated with incompatible marriages. Many respondents preferred that the program include mental illness and drug testing. Even if compatibility existed, a sizeable proportion of respondents declined to proceed with the marital procedure if one companion was a carrier. The participants had a clear understanding of the importance of premarital screening. However, this assertion contradicts the current evidence regarding the prevalence of hereditary diseases. To reduce disease burden, the significance of the program and the value of making informed decisions following examinations must be emphasized. Cette étude examine les connaissances et les attitudes des hommes saoudiens en matière de dépistage prénuptial, 19 ans après sa mise en oeuvre. Une cohorte de 133 hommes a été examinée. Sur les 133 hommes participants au dépistage, une majorité significative de 126 personnes (94,7 %) connaissaient le programme de dépistage prénuptial. Un plus petit nombre de personnes (88, 66,2 %) étaient au courant des conditions détectées lors du dépistage. Un désaccord s'est développé sur la légalité du mariage en cas de résultat négatif au test. De nombreux participants ont déclaré que l'objectif principal du programme de dépistage prénuptial était d'alléger les fardeaux sociaux et familiaux associés aux mariages incompatibles. De nombreux répondants préféraient que le programme inclue les tests de dépistage des maladies mentales et des drogues. Même si la compatibilité existait, une proportion importante de personnes interrogées refusaient de procéder à la procédure de mariage si l'un des compagnons était porteur. Les participants comprenaient clairement l'importance du dépistage prénuptial. Cependant, cette affirmation contredit les preuves actuelles concernant la prévalence des maladies héréditaires. Pour réduire le fardeau de la maladie, il faut souligner l'importance du programme et l'importance de prendre des décisions éclairées à la suite des examens.

This study assessed the knowledge and attitudes of Saudi women regarding the premarital screening program (PMS) using a tailored questionnaire survey. Of the 185 participants, 176 (95.1%) were familiar with PMS, and 117 (63.2%) were aware of the diseases that the screening tests aim to detect. The majority of participants supported also including screenings for drug use and mental illness. When considering the situation of compatible partners with one being a carrier, a considerable proportion of respondents indicated they would not proceed with matrimony. Overall, the level of awareness and attitudes concerning the critical significance of PMS were deemed satisfactory. To mitigate the impact of diseases, it is imperative to continue disseminating information concerning the program, its importance, and the necessity of making well-informed decisions after the evaluations. Cette étude a évalué les connaissances et les attitudes des femmes saoudiennes concernant le programme de dépistage prénuptial (PMS) à l'aide d'un questionnaire personnalisé. Sur les 185 participants, 176 (95,1 %) connaissaient le syndrome prémenstruel et 117 (63,2 %) connaissaient les maladies que les tests de dépistage visent à détecter. La majorité des participants étaient également favorables à l'inclusion de dépistages de la consommation de drogues et de la maladie mentale. Lorsqu'on considère la situation des partenaires compatibles, dont l'un est porteur, une proportion considérable de personnes interrogées ont indiqué qu'elles ne procéderaient pas au mariage. Dans l'ensemble, le niveau de sensibilisation et les attitudes concernant l'importance critique du syndrome prémenstruel ont été jugés satisfaisants. Pour atténuer l'impact des maladies, il est impératif de continuer à diffuser des informations concernant le programme, son importance et la nécessité de prendre des décisions éclairées après les évaluations.