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1.
Orphanet J Rare Dis ; 19(1): 326, 2024 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-39242521

RESUMEN

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.


Asunto(s)
Exámenes Prenupciales , Talasemia , Femenino , Humanos , Bangladesh/epidemiología , Asesoramiento Genético/organización & administración , Prevalencia , Talasemia/diagnóstico , Talasemia/epidemiología , Talasemia/genética , Talasemia/prevención & control
2.
Int J Public Health ; 69: 1607809, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39252873

RESUMEN

Objective: Premarital screening is one of the most important strategies for preventing infectious diseases such as hepatitis B virus, hepatitis C virus, and human immunodeficiency virus in populations. This study aims to explore the prevalence of these viruses and their association with potential demographic factors among individuals undergoing premarital screening in Saudi Arabia. Methods: A cross-sectional study design using the National Healthy Marriage Program electronic registry in the Saudi Ministry of Health. Patients were selected from the premarital screening tests for the three blood-borne viruses. Data were obtained from January to August 2021 among 114,740 individuals. Results: Hepatitis B virus infection showed the highest prevalence followed by hepatitis C and human immunodeficiency viruses. Among those who were infected, men had higher infectious disease prevalence than women. The central and western regions had the highest percentages of infection. Conclusion: The studied infections pose a continuous public health issue among premarital screening individuals in Saudi Arabia. This study identified important demographic risk factors for these diseases and highlighted the need for future strategies and long-term plans at the national level.


Asunto(s)
Infecciones por VIH , Hepatitis B , Hepatitis C , Exámenes Prenupciales , Humanos , Arabia Saudita/epidemiología , Masculino , Femenino , Hepatitis B/epidemiología , Hepatitis B/diagnóstico , Estudios Transversales , Hepatitis C/epidemiología , Hepatitis C/diagnóstico , Infecciones por VIH/epidemiología , Infecciones por VIH/diagnóstico , Adulto , Prevalencia , Tamizaje Masivo , Adulto Joven , Factores de Riesgo , Persona de Mediana Edad , Adolescente
4.
Front Public Health ; 12: 1379326, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38962764

RESUMEN

Introduction: Premarital screening (PMS) is an essential global measure that seeks to reduce the occurrence of specific genetic disorders and sexually transmitted diseases common in consanguineous marriages. Due to the lack of a nationwide study, this research was designed to comprehend how unmarried individuals perceive the risks and benefits of PMS. Method: A cross-sectional study was conducted using an online questionnaire distributed through different social media platforms, responses from the native adult population (18-49 years) Saudi Arabia was only included in the study. The questionnaire was based on the Health Belief Model (HBM) to assessing seven different constructs including susceptibility, seriousness, benefits-, barriers-, & cues- to action, self-efficacy, and social acceptance. Data frequency was represented by mean and standard deviation; chi-square and t-tests were conducted for the comparison of independent and dependent variables. A multinomial logistic regression was used to predict factors influencing decisions related to PMS. Results: 1,522 participants completed the survey, mostly 18-25 years old and most of them were women. The majority were single with 85 men and 1,370 women. Most participants (59.6%) believed their parents were related, while 40.5% did not. 122 respondents reported they had to marry within their tribe. Findings revealed significant correlations among all HBM themes, with varying strengths. Notably, a moderate positive relationship was found between the perception of benefits and cues to action, suggesting that enhancing the perceived benefits of PMS could facilitate safe marriage practices. Multinomial regression analysis revealed that demographic factors and health beliefs significantly influence individuals' intentions and behaviors toward PMS and safe marriage. Conclusion: The study concludes that by identifying and addressing barriers, and promoting positive social acceptance, PMS can significantly contribute to preventing genetic diseases and promoting safe marriage practices, although the cross-sectional design limits the establishment of causal relationships and further research is needed.


Asunto(s)
Consanguinidad , Matrimonio , Exámenes Prenupciales , Humanos , Estudios Transversales , Femenino , Masculino , Adulto , Arabia Saudita , Adolescente , Persona de Mediana Edad , Matrimonio/estadística & datos numéricos , Matrimonio/psicología , Encuestas y Cuestionarios , Exámenes Prenupciales/estadística & datos numéricos , Adulto Joven , Persona Soltera/estadística & datos numéricos , Persona Soltera/psicología , Conocimientos, Actitudes y Práctica en Salud , Modelo de Creencias sobre la Salud
5.
BMC Public Health ; 24(1): 1556, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38858722

RESUMEN

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.


Asunto(s)
Enfermedades Genéticas Congénitas , Pruebas Genéticas , Conocimientos, Actitudes y Práctica en Salud , Exámenes Prenupciales , Humanos , Arabia Saudita , Masculino , Femenino , Exámenes Prenupciales/estadística & datos numéricos , Adulto , Estudios Transversales , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/epidemiología , Pruebas Genéticas/estadística & datos numéricos , Adulto Joven , Encuestas y Cuestionarios , Persona de Mediana Edad , Consanguinidad , Adolescente
6.
BMC Public Health ; 24(1): 1467, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38822327

RESUMEN

BACKGROUND: Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening. METHODS: This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits. RESULTS: Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I2: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (ß = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables. CONCLUSION: With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.


Asunto(s)
Anemia de Células Falciformes , Exámenes Prenupciales , Rasgo Drepanocítico , Humanos , Rasgo Drepanocítico/diagnóstico , África , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/genética , Tamizaje Masivo , Pruebas Genéticas
7.
Hemoglobin ; 48(1): 56-59, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38565325

RESUMEN

Thalassemia major is one of the health problems in Iraq, especially in Kurdistan. Pre-marriage mandatory preventive screening program was established in Kurdistan in 2008, which allowed us to study the prevalence of different hemoglobinopathies among newly married young adults in this region. A total of 1154 subjects (577 couples) attending the Koya district, premarital Health center, were screened using red cell indices. Those who had mean corpuscular volume (MCV)<80 fl and mean corpuscular hemoglobin (MCH)<27 pg had high-performance liquid chromatography and iron studies. Out of 1154 individuals that were evaluated, 183 (11.9%) had low MCV and MCH. Of the former 183 subjects, 69 (5.97%) had ß-thalassemia trait, 10 (0.86%) had δß-thalassemia trait, and no other hemoglobinopathies were recorded in our study. There was second-degree consanguinity in 4.7% of all 577 couples. In two couples, both partners had ß-thalassemia trait and both were consanguineous. Both couples decided to separate after counseling. Based on the current study, the role of the premarital screening program in decreasing the number of new thalassemia major cases among the Kurdish population is laudable. Therefore, mandatory premarital screening is advised in all parts of Iraq.


Asunto(s)
Hemoglobinopatías , Talasemia beta , Adulto Joven , Humanos , Talasemia beta/diagnóstico , Talasemia beta/epidemiología , Talasemia beta/genética , Irak/epidemiología , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/epidemiología , Hemoglobinopatías/genética , Índices de Eritrocitos , Tamizaje Masivo , Exámenes Prenupciales
8.
Afr J Reprod Health ; 28(3): 63-73, 2024 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-38583067

RESUMEN

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 œuvre. 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.


Asunto(s)
Matrimonio , Exámenes Prenupciales , Humanos , Masculino , Arabia Saudita/epidemiología , Exámenes Prenupciales/métodos , Conocimientos, Actitudes y Práctica en Salud , Estudiantes
9.
Afr J Reprod Health ; 27(12): 72-78, 2023 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-38158864

RESUMEN

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.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Exámenes Prenupciales , Humanos , Femenino , Arabia Saudita , Pruebas Genéticas , Encuestas y Cuestionarios
10.
J Pak Med Assoc ; 73(11): 2232-2234, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38013534

RESUMEN

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.


Asunto(s)
Exámenes Prenupciales , Talasemia , Embarazo , Femenino , Adolescente , Humanos , Universidades , Pakistán , Estudios Transversales , Exámenes Prenupciales/métodos , Talasemia/diagnóstico , Talasemia/prevención & control , Diagnóstico Prenatal
11.
Postgrad Med ; 135(8): 818-823, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38019185

RESUMEN

OBJECTIVES: Hemoglobinopathies are a global public health problem with high mortality and morbidity and very expensive treatment. Disease can be reduced and prevented with hemoglobinopathy screening tests. It is possible to identify carriers with the hemoglobinopathy screening program applied in many countries of the world and in Turkey. This study aims to evaluate the results of the national premarital hemoglobinopathy screening program carried out in primary healthcare institutions. METHODS: The research is of epidemiological and cross-sectional type. Electrophoresis results examined within the scope of the premarital hemoglobinopathy screening program in Samsun between 1 January 2019 and 31 December 2021 were evaluated retrospectively. Age, gender, year of screening, and hemoglobinopathy screening results were obtained from the records. In the statistical analysis of the data, p < 0.05 was accepted. RESULTS: The median age of 52,338 people screened under the hemoglobinopathy screening program was 29.0 (16.0-86.0) years. About 54.1% (n = 28,309) of those who were screened were female, and it was found that the least screening was done in 2020 (n = 15,765 (30.1%)). As a result of the screening, the frequency of the ß-thalassemia (ß-thal) trait was 1.37% (n = 676), the frequency of the abnormal HbS was 0.04% (n = 20). The frequency of ß-thal trait was statistically significantly higher in 2020 (1.5%) compared to other years (p = 0.029). When the results were analyzed by gender, the rate of women with abnormal HbS (3.7%) was significantly higher than the others (p = 0.017). CONCLUSIONS: This study presents the results of the national hemoglobinopathy screening program in Northern Turkey and the ß-thal and the abnormal HbS rates were found to be low. The data obtained will be useful in monitoring hemoglobinopathy disorders and evaluating the current program's effectiveness in the future. It will allow decision-makers to implement policy changes and prioritize new programs.


Asunto(s)
Hemoglobinopatías , Talasemia beta , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mar Negro , Estudios Transversales , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/epidemiología , Hemoglobinopatías/prevención & control , Exámenes Prenupciales , Prevalencia , Estudios Retrospectivos , Turquía/epidemiología , Adolescente , Adulto Joven
12.
J Med Screen ; 30(4): 161-167, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37066693

RESUMEN

OBJECTIVES: Hemoglobinopathies are the commonest inherited blood disorders and form a serious burden worldwide, affecting communities, patient quality of life and healthcare resources. The Kingdom of Bahrain has issued a law obligating couples to undergo premarital screening to detect those at risk of having children affected with these disorders. The aim of this study was to analyze the marital decisions of couples at risk for hemoglobinopathies and follow up the outcomes. METHODS: A retrospective study was conducted on couples at risk for hemoglobinopathies identified during the premarital screening program at local health centers in the Kingdom of Bahrain and referred to the genetics department in the Salmaniya Medical Complex for genetic counselling in 2018-2020. RESULTS: A total of 189 couples were found to be at risk for hemoglobinopathies, of whom 159 completed the survey. Of these, 107 (67%) decided to proceed with their marriage and 26 couples achieved pregnancy. Out of 24 at-risk pregnancies with known outcome, 83.3% were spontaneous whereas only 16.7% underwent in-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Eight out of 20 infants born to couples after spontaneous conception were affected. A positive attitude toward IVF with PGD was held by 60% of at-risk couples. CONCLUSIONS: Despite undergoing premarital screening and genetic counselling, a large percentage of at-risk couples proceeded with their marriage. Most of them justified their decision due to the availability of advanced methods that aid in the prevention of having an affected child. However, the cost of such intervention was a major barrier for the majority of couples.


Asunto(s)
Asesoramiento Genético , Hemoglobinopatías , Embarazo , Femenino , Niño , Humanos , Asesoramiento Genético/métodos , Estudios Retrospectivos , Bahrein , Calidad de Vida , Detección Precoz del Cáncer , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/genética , Pruebas Genéticas , Exámenes Prenupciales/métodos , Exámenes Prenupciales/psicología
13.
Hemoglobin ; 46(5): 277-284, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36369918

RESUMEN

The National Premarital Screening Program, which includes sickle cell disease and thalassemia, was made mandatory in 2004 by the Kingdom of Saudi Arabia (KSA), and the earlier studies have shown a poor knowledge and negative attitude toward this program in the different study groups. This study was conducted to assess the knowledge and attitudes toward premarital screening (PMS) in a randomly selected national sample of the Saudi population, 18 years and above. This was a cross-sectional study conducted in the Saudi population in the western region between July and December 2021. Valid and reliable questionnaire and data were collected from 893 participants aged ≥18 years. The χ2 test was used to ascertain if there is an association between categorical variables. Multivariate logistic regression was used to determine factors predicting satisfactory knowledge. All 893 study participants had heard about PMS with 625 (70.0%), 244 (27.3%) and 24 (2.7%) having satisfactory, fair and poor knowledge, respectively. Participants aged 26-35 years (p =0 .038), females (p < 0.001), those with higher education (p = 0.003) and employed (p = 0.004), had a better knowledge compared to other groups. Most of the participants had a positive attitude toward PMS. There is a changing trend in the knowledge and attitude toward PMS with a greater number of people wanting to go for PMS. There is also an improvement in the number of participants opting out of marriage in case of incompatibility with their future partner. However, the health education programs need to be improved regarding the hemoglobinopathies.


Asunto(s)
Hemoglobinopatías , Exámenes Prenupciales , Femenino , Humanos , Adolescente , Adulto , Arabia Saudita/epidemiología , Estudios Transversales , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/epidemiología , Hemoglobinopatías/genética , Actitud , Conocimientos, Actitudes y Práctica en Salud
14.
Artículo en Inglés | MEDLINE | ID: mdl-35410099

RESUMEN

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.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Exámenes Prenupciales , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Percepción , Exámenes Prenupciales/psicología , Qatar , Encuestas y Cuestionarios , Adulto Joven
15.
Mol Genet Genomic Med ; 9(8): e1756, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34288589

RESUMEN

BACKGROUND: There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population frequency of 40 different pathogenic variants in a cohort of over 3800 individuals with Syrian Jewish ancestry. METHODS: High throughput PCR amplicon sequencing was used to genotype 40 disease-causing variants in 3840 and 5279 individuals of Syrian and Iranian Jewish ancestry, respectively. These data were compared with Ashkenazi Jewish carrier frequencies for the same variants, based on roughly 370,000 Ashkenazi Jewish individuals in the Dor Yeshorim database. RESULTS: Carrier screening identified pathogenic variants shared among Syrian, Iranian, and Ashkenazi Jewish groups. In addition, alleles unique to each group were identified. Importantly, 8.2% of 3401 individuals of mixed Syrian Jewish ancestry were carriers for at least one pathogenic variant. CONCLUSION: The findings of this study support the clinical usefulness of premarital genetic screening for individuals with Syrian Jewish ancestry to reduce the incidence of autosomal recessive disease among persons with Syrian Jewish heritage.


Asunto(s)
Frecuencia de los Genes , Tamización de Portadores Genéticos/normas , Enfermedades Genéticas Congénitas/genética , Judíos/genética , Guías de Práctica Clínica como Asunto , Tamización de Portadores Genéticos/métodos , Tamización de Portadores Genéticos/estadística & datos numéricos , Asesoramiento Genético/normas , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/etnología , Humanos , Exámenes Prenupciales/normas , Siria
16.
Afr J Reprod Health ; 25(s1): 36-49, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34077143

RESUMEN

Hearing loss affects many people worldwide, and it hinders speech, language, and social development. Consanguineous marriage is the most prevalent social custom that leads to an increased prevalence of congenital anomalies. Premarital Counseling and Genetic Screening (PMSGC) educational program is urgently needed to empower deaf and hard hearing girls. This study aimed to investigate the effect of educational intervention based on the empowerment model on deaf and hard hearing females' self-efficacy, knowledge, and attitude toward PMSGC. A Quasi-experimental research design was conducted on 64 deaf and hard hearing female students. The data collection instrument comprised four parts: basic data and personal/family history, PMSGC quiz, Likert attitude scale, and general self-efficacy scale. Data were collected from September to December 2020. The empowerment educational intervention was conducted in four sequential phases; needs assessment, planning, implementation, and evaluation. The intervention addressed the students' knowledge, attitudes and self-efficacy. The results showed that 76.6% of the study participants had consanguineous marriage between their parents, 64.1% had a history of hereditary deafness in first-degree relatives. There were statistically significant differences between the total knowledge, attitude, and self-efficacy before and after intervention (p <0.001). In detail, 76.6% of the participants had good knowledge after the intervention compared to only 12.5% before it. Besides, 81.3% of the study participants had a positive attitude toward PMSGC before the intervention compared to 95.3% after it. Self-efficacy was low (25.0%) or moderate (75%) before the intervention compared to moderate (45.3%) or high (42.2%) after the intervention. Educational intervention based on the empowerment model significantly increased the deaf and hard hearing population's self-efficacy, knowledge, and attitude toward PMSGC. The use of the empowerment model in health education should be encouraged and taught to the medical and paramedical students.


Asunto(s)
Sordera , Asesoramiento Genético , Educación en Salud/organización & administración , Conocimientos, Actitudes y Práctica en Salud , Pérdida Auditiva , Personas con Deficiencia Auditiva/psicología , Exámenes Prenupciales , Adulto , Actitud Frente a la Salud , Sordera/diagnóstico , Sordera/genética , Empoderamiento , Femenino , Pruebas Genéticas , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/genética , Humanos , Autoeficacia , Encuestas y Cuestionarios
17.
Public Health Genomics ; 24(3-4): 182-188, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34192692

RESUMEN

BACKGROUND: During the past two decades, the attention of public health has been drawn to premarital genetic screening (PGS) programs to reduce birth defects and avoid genetic disorders. In Jordan, the high rate of genetic hemoglobinopathies compelled the government to implement an obligatory PGS program before marriage. Therefore, the objective of this study was to investigate the knowledge, opinion, and practice of young Jordanians concerning PGS. METHODS: Using a pretested questionnaire, this cross-sectional study was conducted on a convenience sample from Jordan. The measures included respondents' demographics, and beliefs/opinions regarding PGS. RESULTS: A total of 432 participants completed the survey. The majority (87.8%) had a positive attitude toward PGS program. Reasons behind this positive attitude were preventing transmission of genetic diseases, reducing family breakdown/psychosocial problems, and financial burdens of having a child with genetic disease. In fact, 49.8% of participants were willing to change their marriage decision in case of receiving incompatible results. Moreover, most of the participants (75.1%) demanded the implementation of a law that prohibits incompatible marriages. A positive attitude toward PGS was found to be associated with female gender and having a university education. CONCLUSIONS: Young Jordanians have a positive attitude toward the implementation of PGS. Yet, educational programs should be drawn up to the target population before getting married emphasizing the important role of PGS in the wellness of the community.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Exámenes Prenupciales , Niño , Estudios Transversales , Femenino , Pruebas Genéticas , Humanos , Percepción
18.
J Pediatr Hematol Oncol ; 43(1): e103-e104, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-31688628

RESUMEN

The diagnosis of ß-thalassemia (ß-thal) trait is usually based on an elevated HbA2 fraction (3.5% to 8%). Co-inheritance of a δ-globin variant along with ß-globin gene defects can interfere with the diagnosis of ß-thal trait by causing normal HbA2 levels. In this report, we present an infant with ß-thal major whose mother's ß-thal trait was missed twice before due to an accompanying δ-globin mutation (HbA2-Yialousa; HBD: c.82G>T), resulting in a borderline HbA2 level. In an individual with microcytosis and hypochromia but an apparently normal HbA2 level, compound heterozygosity for a δ-globin mutation and a ß-thal mutation should be remembered in the differential diagnosis.


Asunto(s)
Hemoglobina A2/genética , Diagnóstico Erróneo/estadística & datos numéricos , Mutación , Globinas beta/genética , Talasemia beta/diagnóstico , Talasemia beta/genética , Globinas delta/genética , Adulto , Niño , Femenino , Pruebas Genéticas/métodos , Humanos , Lactante , Masculino , Tamizaje Masivo/métodos , Exámenes Prenupciales/métodos , Pronóstico , Sitios de Carácter Cuantitativo
19.
Hemoglobin ; 44(1): 47-50, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32091272

RESUMEN

Despite the high prevalence of hemoglobinopathies in Saudi Arabia, the prevalence data in some regions are lacking. Updating the epidemiological survey of hemoglobinopathies at regular intervals is necessary to develop effective prevention and control strategies. Therefore, the primary aim of this study was to determine the prevalence of selected hemoglobinopathies in Saudi adults attending premarital screening at the King Khaled General Hospital (KKGH), Al Majma'ah, Saudi Arabia. The current retrospective study was approved by the Central Institutional Review Board (IRB) of the Ministry of Health (with central IRB log #2019-0039E) and was carried out at the above hospital. The data of the premarital couples, who attended the premarital screening center at KKGH from 1 October 2016 to 30 September 2019, was included in this study. A cation exchange high performance liquid chromatography (HPLC) system was used for screening of the selected hemoglobinopathies. In total, 3755 cases including 1953 (52.01%) males and 1802 (47.99%) females, were screened for hemoglobinopathies. Abnormal hemoglobin (Hb) fractions were observed in 38 (1.01%) cases. The prevalence of ß-thalassemia (ß-thal) trait was 0.69% (26/3755) and that of sickle cell trait 0.32% (12/3755). Our results showed that the prevalence of ß-thal trait is higher than that of sickle cell trait in the adult population of Al Majma'ah. Further comprehensive programs should be carried out to determine the prevalence of hemoglobinopathies in various provinces and cities of Saudi Arabia and other countries. This will help to maintain the updated records of the disease incidence for improving the control measures.


Asunto(s)
Hemoglobina Falciforme/genética , Mutación , Rasgo Drepanocítico/epidemiología , Globinas beta/genética , Talasemia beta/epidemiología , Adulto , Cromatografía Líquida de Alta Presión , Femenino , Expresión Génica , Asesoramiento Genético , Pruebas Genéticas , Humanos , Masculino , Exámenes Prenupciales , Prevalencia , Estudios Retrospectivos , Arabia Saudita/epidemiología , Rasgo Drepanocítico/sangre , Rasgo Drepanocítico/diagnóstico , Rasgo Drepanocítico/genética , Globinas beta/deficiencia , Talasemia beta/sangre , Talasemia beta/diagnóstico , Talasemia beta/genética
20.
Pan Afr Med J ; 37: 155, 2020.
Artículo en Francés | MEDLINE | ID: mdl-33425188

RESUMEN

The purpose of this study was to determine the prevalence of spermogram abnormalities in men consulting for premarital screening and in infertile couples in Butembo. We conducted a retrospective descriptive study at the Graben University Diagnostic Center. The study population consisted of 890 male subjects aged 21-57 years, of whom 779 underwent prenuptial screening and 111 subjects fertility tests. The overall prevalence of spermogram anomalies in this population was 25.8%, corresponding to a total incidence of 22.9% of premarital consultants and 46,0% of males in infertile couples. Mean pH was: 7.22+/- 0.22. The average volume of semen collected was: 2.56 +/- 1.41 ml. Abnormalities were detected in all spermogram parameters, with a predominance of abnormalities in the same subject (86.5%), mainly in oligoasthenoteratozoospermia (44.8% of cases). Asthenozoospermia was the most common abnormality (90.9% of cases), followed by oligozoospermia (87.4% of cases), teratozoospermia (66.9% of cases), necrozoospermia (55.6% of cases), and azoospermia (10.4% of cases). This study highlights that the cytological profile of the spermogram of this population in Butembo is dominated by associations of anomalies. Other tests such as bacteriological examinations and biochemical marker assays are necessary, in order to identify the causes of abnormalities and to provide appropriate therapies.


Asunto(s)
Infertilidad Masculina/diagnóstico , Análisis de Semen , Espermatozoides/anomalías , Adulto , República Democrática del Congo , Humanos , Incidencia , Infertilidad Masculina/epidemiología , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Exámenes Prenupciales , Prevalencia , Estudios Retrospectivos , Adulto Joven
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