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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
BMC Med Ethics ; 20(1): 37, 2019 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-31142291

RESUMEN

BACKGROUND: Sickle cell anemia (SCA) is a major genetic disease with the greatest burden in sub-Saharan Africa. To try to help reduce this burden, some churches in Nigeria conduct premarital sickle cell hemoglobin screening and refuse to conduct weddings when both individuals are identified as carriers of sickle cell trait. MAIN BODY: This paper explores the ethical challenges involved in such denials. We assess whether churches have the right to decline to marry adults who understand the risks and still prefer to get married, and whether couples should be denied church weddings based on the risk that their child may suffer from sickle cell anemia. We examine the moral and ethical dimensions of such denials and explore the underlying socio-cultural context involving the purpose of marriage and the meaning of the wedding ceremony in societies where premarital screening is one of the few tools available to reduce the risk of having children with SCA. The potential role of the church is also examined against the background of church beliefs, the duty of the church to its members and its role in reducing the suffering of its members and /or their children. CONCLUSION: We argue that the church should impose these burdens on couples only if doing so promotes a sufficiently compelling goal and there is no less burdensome way to achieve it. We then argue that the goal of reducing the number of individuals in Nigeria who have SCA is compelling. However, testing earlier in life offers a less burdensome and potentially even more effective means of achieving this goal. This suggests that, advocating for earlier screening and helping to support these programs, would likely better promote the church's own goals of helping its parishioners, increasing the number of church weddings, and reducing the burden of SCA in Nigeria.


Asunto(s)
Pruebas Genéticas/ética , Hemoglobinas/genética , Matrimonio , Exámenes Prenupciales/ética , Religión y Medicina , Rasgo Drepanocítico/genética , Adolescente , Adulto , Anemia de Células Falciformes/genética , Anemia de Células Falciformes/prevención & control , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nigeria , Adulto Joven
12.
Hemoglobin ; 42(4): 264-268, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30821195

RESUMEN

Hemoglobinopathies can disturb a patient's life style leading to community problems. Premarital screening is an important tool to control and minimize hemoglobinopathies. This study aimed to assess and improve the awareness and attitude of King Khalid University (KKU) [Abha, Kingdom of Saudi Arabia (KSA)] students in the Aseer Region, regarding hemoglobinopathies and the National Premarital Screening Programme (NPMS) in addition to screening for hemoglobin (Hb) variants of students who agreed to participate. This study was an interventional educational prospective study of electronic-lectures (e-lectures) that addressed some important issues of hemoglobinopathies and premarital screening. Six hundred and eleven students were interviewed during the academic year 2017/2018, using closed-ended questionnaires that distributed before and after intervention. Blood samples were taken from 114 students who agreed to check their Hb type by the D-10 Hemoglobin Testing System. The results revealed significant changes in knowledge and attitude of students toward hemoglobinopathies and premarital counseling after intervention. These results reflected the need for easily accessible and continuous health education programs for students to increase their awareness and attitude toward hemoglobinopathies. Laboratory results for 114 students revealed seven cases with microcytic hypochromic anemia (6.1%); they were all females. Blood screening for Hb variants revealed another two females (1.75%) with sickle cell trait (Hb AS). Electronic-health (E-health) is an efficient tool for improving the awareness and attitude of the community toward hemoglobinopathies. Screening blood tests for detection of hemoglobinopathies should be provided to young adults at an earlier stage (before marriage) to decrease the incidence of hereditary diseases in the community.


Asunto(s)
Hemoglobinopatías/diagnóstico , Estudiantes/psicología , Universidades , Actitud , Concienciación , Asesoramiento Genético , Humanos , Tamizaje Masivo/métodos , Exámenes Prenupciales , Arabia Saudita
13.
Genet Med ; 19(9): 1022-1031, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28125089

RESUMEN

PURPOSE: Thalassemia is one of the most common monogenic diseases in southwestern China, especially among the Dai ethnic group. Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people. METHODS: Blood samples were obtained from Dai people for premarital screening. Double-blind, parallel hemoglobinopathy screening was conducted using both traditional hematological methods (red cell indexes and hemoglobin electrophoresis, then DNA sequencing) and an NGS approach. RESULTS: Among 951 tested individuals, we found a thalassemia carrier rate of 49.5% (471/951) using the NGS screen, in contrast to 22.0% (209/951) found using traditional methods. Almost 74.8% (217/290) of α-thalassemia carriers and 30.5% (25/82) of composite α- and ß-thalassemia carriers were missed by traditional screens. The proportion of such α- and ß-thalassemia carriers among the Dai people is 8.6% (82/951). For ß-thalassemia carriers, the high ratio (66/99) of CD26 mutations may suggest a correlation between CD26 and the environmental adaption of the Dai people. CONCLUSIONS: Methodological comparisons demonstrate the superiority of NGS for both sensitivity and specificity, provide a comprehensive assessment of thalassemia screening strategies, and indicate that NGS is a competitive screening method, especially among populations with a high prevalence of disease.Genet Med advance online publication 26 January 2017.


Asunto(s)
Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Talasemia alfa/diagnóstico , Talasemia alfa/genética , Talasemia beta/diagnóstico , Talasemia beta/genética , Adolescente , Adulto , Alelos , Biomarcadores , China/epidemiología , China/etnología , Codón , Etnicidad/genética , Frecuencia de los Genes , Pruebas Genéticas , Humanos , Tamizaje Masivo , Persona de Mediana Edad , Mutación , Fenotipo , Exámenes Prenupciales , Prevalencia , Adulto Joven , Globinas alfa/genética , Talasemia alfa/epidemiología , Globinas beta/genética , Talasemia beta/epidemiología
14.
BMC Int Health Hum Rights ; 17(1): 12, 2017 05 10.
Artículo en Inglés | MEDLINE | ID: mdl-28490382

RESUMEN

BACKGROUND: HIV screening has existed in numerous methods as an important part of HIV prevention efforts over the years. Premarital HIV testing for couples who wish to marry has been implemented in a number of regions, which often operate in a mandatory rather than voluntary basis and is considered a contentious issue, with viewpoints held in favour and against. One such region is Malaysia which has a policy of mandatory premarital HIV testing of prospective Muslim married couples. The purpose of this study is to understand stakeholders' views on premarital HIV testing given the Malaysian Islamic context. METHODS: 35 in-depth face to face semi-structured interviews were undertaken with key stakeholder groups involved in HIV prevention policy in Malaysia, namely, officials from the Ministry of Health, religious leaders and people living with HIV. Participants were recruited from the Klang Valley area, from July to December 2013, using purposive sampling techniques. Inclusion criteria necessitated that participants were over the age of 18 and provided full consent. Interviews were audiotaped, followed a standardised topic guide, transcribed verbatim and analysed using a framework analysis. RESULTS: Participants identified pre-marital HIV testing as an effective HIV prevention policy implemented in Malaysia and was viewed, for the most part, as a positive initiative across all stakeholders. Religious leaders were supportive of testing as it provides a protective mechanism, in line with the teachings of the Shariah, while Ministry of Health officials considered it a normal part of their HIV prevention screening initiatives. However, there were concerns surrounding issues such as confidentiality, counselling and discrimination surrounding the test described by the PLHIV group. CONCLUSION: The findings of this study show that among the participants interviewed was strong support for mandatory premarital HIV testing, which could possibly expose the vulnerability to HIV, reluctance to test and other areas in the HIV response in Malaysia that need to be addressed. Furthermore, although international health organisations are vehemently against mandatory premarital HIV testing, the strong local support for such measures and the mismatch between these views is worth exploring in more detail, given the cultural, social and religious context.


Asunto(s)
Infecciones por VIH/prevención & control , Islamismo/psicología , Exámenes Obligatorios/métodos , Exámenes Prenupciales/tendencias , Adulto , Femenino , Derechos Humanos , Humanos , Entrevistas como Asunto , Liderazgo , Malasia , Masculino , Exámenes Prenupciales/psicología , Estudios Prospectivos , Salud Pública , Investigación Cualitativa
15.
J Pak Med Assoc ; 67(9): 1434-1437, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28924289

RESUMEN

The present study was designed to assess the Knowledge, Attitude and Practices (KAP) of the parents of b-thalassaemia children (410) selected from public (73.2%) and private (26.8%) thalassaemia centers of Rawalpindi-Islamabad. Qualitative and quantitative approaches were used to collect the data, which was analyzed by using SPSS. Majority of the respondents (70%) were rural young parents with no knowledge of thalassaemia before marriage. However, now 81.2% were aware about this. Majority of the respondents (89%) had the knowledge about premarital screening, 86.1% were opposed to intermarriages of carrier and 57% believed that if carrier got married then prenatal diagnosis or Chorionic villus sampling test is necessary. About 76.8% of the couples were screened and 42.2% had an experience of Chorionic villus sampling among which 20% abortions were reported. Overall 82% parents had received genetic counselling. The present study suggests that parent's regular visits and genetic counseling at thalassaemia centers have played important role about awareness.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Padres , Talasemia beta , Adulto , Transfusión Sanguínea , Muestra de la Vellosidad Coriónica , Consanguinidad , Estudios Transversales , Femenino , Tamización de Portadores Genéticos , Heterocigoto , Humanos , Masculino , Matrimonio , Persona de Mediana Edad , Pakistán , Exámenes Prenupciales , Diagnóstico Prenatal , Investigación Cualitativa , Encuestas y Cuestionarios , Adulto Joven
16.
Hemoglobin ; 40(4): 273-6, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27207683

RESUMEN

Thalassemia and hemoglobinopathies are a major public health problem in Turkey. Hemoglobinopathy prevention programs (HPPs) were started in 33 provinces situated in Thrace, Marmara, Aegean, Mediterranean and South Eastern regions of Turkey in 2003. A premarital hemoglobinopathy test is mandatory and free of charge in this program. According to the Ministry of Health reports, 46 first level hemoglobinopathy diagnostic centers were established for premarital tests. Within the last 10 years, approximately 79.0% of married individuals per year were screened by the centers. While the percentage of premarital screening tests was 30.0% of all couples in 2003, it reached 86.0% in 2013. The number of newborn with thalassemia and hemoglobinopathies were 272 in 2002 and dropped to 25 in 2013. There has been a 90.0% reduction in affected births. Our hemoglobinopathy diagnostic center was established in 2003 and licensed by the Ministry of Health in 2004. We studied a total of 89,981 blood samples from premarital tests for 10 years and the incidence of ß- and α-thalassemia (ß- and α-thal) trait was found to be 6.57 and 3.56%, respectively. The distribution of the most common abnormal hemoglobins (Hbs) was: Hb S (HBB: c.20A > T) (0.31%), Hb D-Los Angeles (HBB: c.364G > C) (0.15%), Hb G-Coushatta (HBB: c.68A > C) (0.06%) and Hb E (HBB: c.79G > A) (0.02%). A total of 60 couples, both carrying ß-thal trait, were directed to the prenatal diagnosis (PND) center in 10 years. The premarital hemoglobinopathy screening program is running successfully at our center and other centers in Turkey.


Asunto(s)
Hemoglobinopatías/diagnóstico , Tamizaje Masivo/estadística & datos numéricos , Exámenes Prenupciales , Pruebas Genéticas/estadística & datos numéricos , Hemoglobinas Anormales/análisis , Humanos , Incidencia , Exámenes Prenupciales/estadística & datos numéricos , Diagnóstico Prenatal , Turquía
17.
Hemoglobin ; 40(2): 118-24, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26821551

RESUMEN

A mandatory National Premarital Thalassemia Screening Program was implemented in Jordan in 2004. This cross-sectional study aimed to assess the knowledge and attitudes of university students in North Jordan toward this program. Data was collected from 542 students from four universities (two public and two private universities) located in North Jordan, using a structured questionnaire. Results of t-test and analysis of variance (ANOVA) showed that while respondents had adequate knowledge of and positive attitudes toward the premarital screening program, there was still a lack of knowledge about the disease itself. Nearly half the respondents were under the impression that ß-thalassemia (ß-thal) is a disease that can be treated simply. One-third of the respondents believed that if both partners were carriers of ß-thal they should proceed with marriage. Negative attitude was revealed when many respondents believed that diagnosing a family member as a carrier affects other family members' future marriage opportunities. Significant associations were detected between the knowledge scores and gender, urban/rural residence, and the university where the students were enrolled. Students in private universities showed significantly lower attitude scores. Consideration of prenatal diagnostic services as part of a ß-thal prevention program is necessary. It would also be helpful to include information about ß-thal as a preventable inherited illness with a severe debilitating impact on the family in the high school curriculum. There is also a need for social marketing of the program.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Exámenes Prenupciales , Estudiantes , Talasemia/epidemiología , Universidades , Adolescente , Adulto , Análisis de Varianza , Estudios Transversales , Femenino , Humanos , Jordania/epidemiología , Masculino , Tamizaje Masivo , Adulto Joven
18.
Beijing Da Xue Xue Bao Yi Xue Ban ; 47(3): 437-42, 2015 Jun 18.
Artículo en Zh | MEDLINE | ID: mdl-26080872

RESUMEN

OBJECTIVE: To describe the secular trends of premarital medical examination (PME) in China during 1996 and 2013 and to assess the impacts of national health policies on the PME rate. METHODS: The information on marriage and PME for districts and counties in 31 provinces of China was annually collected by the Office for National Maternal & Child Health Statistics of China, and the information on the health policies was from official governmental websites. According to the main health policies, the calendar years were categorized into 3 periods: 1996 to 2003 was mandatory PME period; 2004 to 2008 was encouraged voluntary PME period; and 2009 to 2013 was free-paid voluntary PME period. RESULTS: During the 18-year period, 284 242 719 people were registered for a marriage in which 107 198 795 were examined, giving the PME rate of 37.7%. During the mandatory PME period, the rate ranged 52.7%-67.7% with an average of 60.9% (urban 71.5%, and rural 51.7%). In 2004, the first year when the PME became voluntary, the rate was abruptly dropped to 2.6%, and thereafter gradually increased to 11.5% in 2008. As the policies of the free-paid voluntary PME were subsequently issued, the rate was quickly increased to 52.3% (urban 49.8%, and rural 54.6%) in 2013. The increasing trend was consistently observed both in urban and rural areas, and across East, Middle, West, and Northeast economical regions. However, the rates differed greatly among provinces. In 2013, 5 provinces had rates of >90% (Guangxi 97.5%, Fujian 96.0%, Ningxia 95.4%, Zhejiang 93.4% and Anhui 90.1%), whereas some provinces were stuck at a low rate, including developed and underdeveloped provinces/cities. The PME rate in 2013 was 27.4% for Shanghai, 25.5% for Guangdong, 12.4% for Chongqing, 5.8% for Beijing and 4.6% for Tianjin. Underdeveloped provinces were Guizhou (6.4%) and Qinghai (1.8%). CONCLUSION: As various national policies to promote voluntary PME were issued, the PME rate was significantly increased after a sharp decline, though it varied greatly by provinces. For provinces with high PME rate, PME-related health benefits need to be evaluated; for provinces with low rate, it is of important practical significance to explore a cost-effective health service model that is likely incorporated with pre-pregnancy examination.


Asunto(s)
Exámenes Prenupciales/tendencias , China , Política de Salud , Humanos , Matrimonio
19.
J Pak Med Assoc ; 65(10): 1047-9, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26440830

RESUMEN

OBJECTIVE: To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. METHODS: The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood Care Centre, Abbottabad, in Pakistan's Khyber Pakhtunkhwa province. Electrophoretic separation of human haemoglobin like A, F, S and C was done and then haemoglobin in the gel was immobilised in a fixative solution and the gel was dried to a film. Haemoglobin pattern was visualised by staining the film with a protein-specific stain. The pattern was quantified by densitometry. RESULTS: Of the 98 samples, 57(58.2%) had b-thalassemia trait with elevated haemoglobin alpha 2 level, and 41(41.8%) had normal level. Out of the 57 carriers, 33(57.89%) were males and 24(42.10%) were females. Mean age of carriers was 11.65±6.25 years compared to 10.93±7.75 in normal patients. Mean haemoglobin alpha 2 level of carriers was 5.2±0.56% compared to 2.34±0.57% in normal subjects. CONCLUSIONS: Carrying out mass screening programmes throughout Pakistan for the detection of thalassemia carriers and providing them the benefit of marriage counselling may decrease the incidence of thalassemia Major.


Asunto(s)
Tamización de Portadores Genéticos , Pruebas Genéticas , Exámenes Prenupciales , Talasemia beta/diagnóstico , Adolescente , Niño , Preescolar , Estudios Transversales , Electroforesis , Femenino , Heterocigoto , Humanos , Lactante , Masculino , Pakistán , Adulto Joven , Talasemia beta/genética , Talasemia beta/prevención & control
20.
BMC Public Health ; 14: 659, 2014 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-24972866

RESUMEN

BACKGROUND: Premarital medical examination (PME) compliance rate has dropped drastically since it became voluntary in China in 2003. This study aimed to establish a prediction model to be a theoretic framework for analyzing factors affecting PME compliance in Zhejiang province, China. METHODS: A culturally-tailored health behavioral model combining the Health Behavioral Model (HBM) and the Theory of Reasoned Action (TRA) was established to analyze the data from a cross-sectional questionnaire survey (n = 2,572) using the intercept method at the county marriage registration office in 12 counties from Zhejiang in 2010. Participants were grouped by high (n = 1,795) and low (n = 777) social desirability responding tendency (SDRT) by Marlowe-Crowne Social Desirability Scale (MCSDS). A structural equation modeling (SEM) was conducted to evaluate behavioral determinants for their influences on PME compliance in both high and low SDRT groups. RESULTS: 69.8% of the participants had high SDRT and tended to overly report benefits and underreport barriers, which may affect prediction accuracy on PME participation. In the low SDRT group, the prediction model showed the most influencing factor on PME compliance was behavioral intention, with standardized structural coefficients (SSCs) being 0.75 (P < 0.01), and the intention was positively determined by individual's attitude toward PME (SSCs = 0.48, P < 0.01) and subjective norms (SSCs = 0.22, P < 0.01) and negatively determined by perceived threat (SSCs = -0.08, P = 0.028). Attitudes and subjective norms were more crucial predictors for PME compliance than perceived threat (SSCs = 0.36, 0.269, and -0.06, respectively). County environmental factors played a role in PME compliance while less influential than behavioral determinates (16% vs. 84% in across factor variance partition coefficient). CONCLUSIONS: PME compliance might be influenced by demographic, behavioral, and social environmental factors. The verified prediction model was tested to be an effective theoretic framework for the prediction of factors affecting voluntary PME compliance. It also should be noted that internationally available behavioral theories and models need to be culturally tailored to adapt to particular populations. This study has provided new insights for establishing a theoretical model to understand health behaviors in China.


Asunto(s)
Actitud , Cultura , Conductas Relacionadas con la Salud , Intención , Exámenes Prenupciales , Adulto , China , Estudios Transversales , Análisis Factorial , Femenino , Humanos , Masculino , Matrimonio/legislación & jurisprudencia , Persona de Mediana Edad , Modelos Biológicos , Medio Social , Encuestas y Cuestionarios , Programas Voluntarios , Adulto Joven
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