scholarly journals Premarital screening for hemoglobinopathies: Can we do better?

2021 ◽  
Vol 12 (2) ◽  
pp. 101
Author(s):  
AliH Algiraigri
Keyword(s):  
Author(s):  
Sandhanasamy Devanesan ◽  
Mohamad S. AlSalhi ◽  
Vadivel Masilamani ◽  
Fathima AlQatahny ◽  
Aruliah Rajasekar ◽  
...  

2021 ◽  
Vol 4 (2) ◽  
pp. 133-141
Author(s):  
Suma Elcy Varghese ◽  
Rana Hassan Mohammad El Otol ◽  
Fatma Sultan Al Olama ◽  
Salah Ahmad Mohamed Elbadawi

<b><i>Background:</i></b> Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. <b><i>Objectives:</i></b> The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. <b><i>Methods:</i></b> During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. <b><i>Results:</i></b> The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. <b><i>Conclusions:</i></b> There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.


JAMA ◽  
1988 ◽  
Vol 259 (7) ◽  
pp. 1012
Author(s):  
John F. Bridgeman
Keyword(s):  

JAMA ◽  
1988 ◽  
Vol 259 (7) ◽  
pp. 1013
Author(s):  
Cory Franklin
Keyword(s):  

2021 ◽  
Author(s):  
Nur-E- Alam ◽  
Md Shariful Islam ◽  
Umme Suriea ◽  
Ramisa Binti Mohiuddin ◽  
Md. Muzahidul Islam ◽  
...  

Abstract Background: Thalassemia is one of the most common life-threatening yet preventable congenital hemoglobin disorders especially in South Asian regions like Bangladesh. It has become a rising public health concern for Bangladesh as 6-12% of the population are carriers and many of them are unaware of it. The purpose of the study is to inspect the knowledge and attitude towards thalassemia among the general people of Bangladesh. Methods: A cross-sectional survey was conducted in eight administrative regions of Bangladesh between January and October of 2020. A self-administrative close-ended questionnaire was designed to collect information about thalassemia and socio-demographic characteristics. Pearson’s chi-square (χ2) test and One-way ANOVA were performed to assess the association between the demographic variables with knowledge and practice regarding thalassemia. A p-value <0.05 was considered significant.Results: Of the 1623 participants, only 44.7% (726/1623) had heard of thalassemia. The mean knowledge of thalassemia was scored 4.75 ± 2.05 out of a total possible score of 10. Half of the participants had no idea that thalassemia was not a transfusion transmitted disease. About 73.1% knew that blood tests are a diagnosis process to determine thalassemia. The urban residing participants had the highest (5.10 ± 1.99) and participants with primary education had the lowest (3.38 ± 1.37) mean score of knowledge. Participants' knowledge score varied significantly by marital status, living pace, literacy and occupation (p< 0.05). However, about 68.2% and 85.5% of the participants showed a positive attitude towards premarital screening of themselves or their family members and donating blood to thalassemia patients, respectively. Conclusion: The study shows that there is a need to disseminate the information on thalassemia since the knowledge gap is huge among people. These findings will assist the implementation of significant steps such as educational programs, health counseling, premarital screening, campaigning, etc. to increase the awareness of thalassemia.


2016 ◽  
Vol 10 (1) ◽  
Author(s):  
Hafiz A. Al-Nood ◽  
◽  
Mohammed M. Al-Akmar ◽  
Ekram F. Al-Erynai ◽  
◽  
...  

Author(s):  
BibiAsma Syed ◽  
Mashael Alshafai ◽  
Karam Turk-Adawi

Background: Hemoglobinopathies are among the most common inherited genetic diseases. The World Health Organization estimates that at least 5% of the world’s population are carriers for hemoglobinopathies (2.9% for thalassemia and 2.3% for sickle cell disease). Programs like premarital screening (PMS) have been developed in most Middle East countries on a mandatory basis to reduce atrisk marriages by providing counseling after a confirmed “genetic carrier” state for hemoglobinopathies. Aim/Objective: The aim of this systematic review and meta-analysis was to estimate the prevalence of atrisk marriages globally and see the variation by region, income level, ethnicity, study period, implementation year of PMS program, study design and consanguinity proportion. Methods: Different databases such as PubMed, Science Direct, and Scopus were searched systematically by using key terms and MeSH Terms. Studies from Google Scholar and reference lists of studies were also collected, and the author extracted all relevant data. Two reviewers independently conducted quality assessment by using Hoy et al (2012) risk of bias tool. Quality effects model (QEM) was used due to considerable heterogeneity observed between studies. Subgroup analysis and sensitivity analysis were also performed for assessing the causes of heterogeneity. Results: A total of 15 studies were included in this meta-analysis. The overall pooled prevalence of at-risk marriages among total couples at-risk was 64% (95% CI: 49%- 78%). Estimates of several subgroups were found to be different as compared to the overall pooled estimate. Funnel plot and Doi plot indicated the presence of publication bias. Sensitivity analysis including only studies with low risk led to a pooled estimate of 52% (CI: 46%, 57%) and indicated absence of publication bias. Conclusion and recommendations: The pooled estimates varied widely and there was a substantial heterogeneity among studies, therefore, there is a need for more well-designed studies across different countries. Moreover, the importance of the quality of counseling sessions should be stressed and combined with efforts in other community sectors, such as high schools where students can attain high knowledge regarding genetic diseases before the age of marriage.


JAMA ◽  
1988 ◽  
Vol 259 (7) ◽  
pp. 1011
Author(s):  
Jean-Pierre Allain
Keyword(s):  

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