Premarital Screening Research Articles

Towards a Thalassemia Free Society: A Study of Service Delivery Challenges for Premarital Screening in Punjab

Thalassemia is one of the common genetic disorders. Nearly 7.9 million children are born with genetic birth defects worldwide, out of which 94% are in middle-income countries. Pakistan bears 5-8% carrier rate prevalence of beta-thalassemia. Premarital screening is considered one of the effective ways of preventing thalassemia and reducing its prevalence. The present study explores the challenges and barriers to service delivery of premarital screening programs in Punjab. The qualitative methods are used for carrying out this study. The study positions itself within epistemological grounds of interpretive approach. Thirteen health care providers from teaching hospitals of Lahore are selected through purposive sampling. Data is collected using in-depth interviews and thematic analysis is carried out to analyze the results. The findings of the study identify the barriers that include lack of infrastructure (technical support and human resource), economic barriers, public-related barriers (awareness, responsibility, cultural beliefs and family setup), provider-related barriers i.e. knowledge and skill, ambiguity about the professional roles, time constraints and difficulty discussing health anxiety and consanguinity. Moreover, potential burdens in the form of ethical implications and legal concerns are also identified. The study recommends improvements and steps to be taken to address the challenges for the implementation of a failure free policy.

Examining Framing Strategies in Health Vodcasts about Genetic Diseases and Pre-Marital Screening

This research delves into the evolving strategies for effectively communicating genetic information. Specifically, it explores health communication strategies as tools for enhancing health literacy. With the burgeoning role of digital media in disseminating public service messages, there is a growing emphasis on digital journalistic practices within health Vodcasts. However, despite the potential of health Vodcasts to promote preventive health behaviors against genetic disorders, their precise impact remains unclear. To address this gap, the study employs content analysis of health frames within digital health Vodcasts from popular media outlets in Pakistan. This research sheds light on journalistic practices related to genetic diseases, their preventive measures, and pre-marital screening. The findings reveal the prominence of the Health Severity frame, followed by the Consequence and Human-interest Frame, in Health Vodcasts. By advocating for more persuasive health campaigns on public health issues, this study contributes to advancing the field of health communication.

An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.

Alpha thalassemia is one of the most common hereditary hemoglobin disorders worldwide, particularly in the Middle East, including Iran. Therefore, determining the spectrum and distribution of alpha thalassemia mutation is a fundamental component of preventive approaches and management strategies. The present study reviews the genetic testing and blood laboratory results of 455 candidates eligible for marriage who were suspected of being thalassemia carriers and on whom genetic testing was performed from 21 March 2013 to 31 December 2020 in Rasht City. A total of 114 (25.05%) alpha thalassemia cases were identified. Fifteen different alpha mutations were found. The most common mutation among the study population was -α3.7 deletion in 55 patients (48.24%), followed by Hb Constant Spring (C.S) in 21 patients (18.42%) and poly A2 in 16 (14.03%). Also, most of the patients were silent carriers. The deletion type of mutation was much more common than non-deletion mutations. Our study reveals genetic heterogeneity and alpha thalassemia diversity among the Rasht City population. We expect that these findings will help guide premarital screening and genetic counseling, prenatal diagnosis of thalassemia, preventive strategy development, as well as a compilation of the alpha thalassemia catalog in Guilan province.

Educational Intervention to Improve Knowledge and Attitudes about Thalassemia Premarital Screening Surveys among Muslim Societies: A Pilot Study in Indonesia

Premarital screening is an effective preventive intervention to decrease the prevalence of thalassemia. However, the use of premarital screening is still low in Indonesia. This study assesses the effect of educational interventions on the knowledge and attitudes of Muslim couples regarding premarital screening for thalassemia in Indonesia. This pilot study used a pre-posttest design that included 17 premarital couples in Banyumas District. The participant’s knowledge and attitude regarding premarital screening for thalassemia were measured using a paper-based questionnaire before and after the intervention. The participants received a class-based lecture about thalassemia screening and were provided a handbook containing lecture material to read at home. The knowledge and attitude score was analyzed using Wilcoxon and Kruskal-Wallis test. The knowledge score significantly increased after the intervention, but the proportion of positive attitudes did not differ significantly. The participants knew that premarital screening for thalassemia was necessary; however, it did not affect their marriage decision. Thus, educational intervention increases the knowledge and shapes the attitude of couples toward thalassemia premarital screening but is inadequate for changing their behavior. Further exploration of the factors that affect the behavior of couples is needed to increase the use of premarital screening among couples in Indonesia.

Premarital screening of the viral hepatitis among Saudi nationals.

Blood borne sexually transmitted infections are among the most serious health problems worldwide. Many people possessing these infections do not have symptoms and may remain undiagnosed. The current study aimed to screen premaritally the incidence of blood borne viruses among Saudi nationals. A retrospective longitudinal study was conducted, using a total of 91,000 medical records, in the blood bank from a single center in the Western region of Saudi Arabia. All persons who underwent premarital examination during the period 2016-2021 for the presence of hepatitis B and C viruses as a part of the national screening program in Saudi Arabia were included in the study. Serological tests were used to screen the presence of HBc Ab and HBs Ag. Both anti-HCV antibodies and the presence of virus RNA using real-time reverse transcriptase polymerase chain reaction (RT-PCR) were also performed. The study reported the presence of 378/91000 (0.42%) infections with hepatitis B virus (HBV) as indicated by the presence of HBc Ab and HBs Ag. Meanwhile, 208 (0.23%) cases were found to be exposed to HCV including 49/91000 (0.05%) active HCV cases, positive for the HCV RNA, while 159/91000 (0.17%) persons were found to possess positive HCV antibodies in the absence of detectable HCV RNA. It was concluded that there is a low prevalence of HBV and HBV among Saudi citizens who were subjected to premarital screening.

Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China

ObjectiveThis study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province. MethodsWe recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed. ResultsThe overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α3.7/αα (50.23%) and βIVS-II-654/βN (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively. ConclusionOur study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey

Hemoglobinopathies are one of the most widespread hereditary disorders in Turkey. The present study aimed to determine the prevalence of hemoglobinopathies in the Nigde province of Turkey. This study was conducted with 2013 individuals who applied for the premarital screening, between January 2019 and December 2021. The complete blood count was measured by an automated hematology analyzer. The types of hemoglobin were determined by high-performance liquid chromatography. A total of 2013 individuals including 951 (47.2%) females and 1062 (52.8%) males, were screened within the premarital screening program, and 67 (3.3%) of them were migrants. 53 out of 2013 (2.63%) individuals were identified as β thalassemia carriers, and five of them were migrants including two from Afghanistan, two from Iran, and one from Georgia. HbC was observed in two cases, a couple from Syria (0.1%), HbD in two cases (0.1%), HbE in one case from Thailand (0.05%), HbS-β-thalassemia in one case (0.05%), delta-β thalassemia in one case (0.05%), and unidentified structural variant in one case (0.05%). Moreover, 183 individuals (9.1%) were considered to have iron deficiency, α-thalassemia, or silent β-thalassemia carrier. These results indicate that the province of Nigde is a relatively risky region regarding hemoglobinopathies. Geographic location and immigrant population may have slightly affected the local prevalence of hemoglobinopathies and could be taken into consideration to ensure the effective implementation of the hemoglobinopathy prevention program.

Sickle Cell Disease Knowledge and Reproductive Decisions: A Saudi Cross-Sectional Study.

Sickle cell disease (SCD) is an autosomal recessive disorder. Decisions following premarital screening results might be influenced by several factors. Thus, this study aims to assess the knowledge and beliefs toward SCD and reproductive decisions. A cross-sectional study was conducted among adults in the eastern province of Saudi Arabia. Data was collected using a web-based questionnaire. Participants were divided into two groups based on their knowledge scores. A total of 390 participants were recruited with a mean age of 28.6 years. The majority (90.5%) of participants had general knowledge about the disease mode of inheritance however, 66.9% had poor knowledge about the disease overall. Regarding knowledge level, there was no statistically significant difference between the non-healthy group (diseased and carrier) and healthy participants (P=0.304). Moreover, the participants' decisions about choosing future partners were more likely to be affected among those with prior knowledge about the disease (p=0.008). However, 152 (91.6%) male participants with prior knowledge would change their decision about selecting a future partner compared to 225 (92.4%) female participants. Regarding reproduction, only 38.5% of participants were aware of in vitro fertilization (IVF) as an assistive reproductive technology. Furthermore, female participants believed that IVF is a way to have healthy babies and would consider it despite the cost more than male participants (p=0.0001, p=0.007 respectively). SCD is an inherited disease with economic, physical, and psychological burdens. However, curative options are costly, and hence, prevention is key. Therefore, healthcare decision-makers should consider implementing policies to minimize the financial burden that may still affect society despite the availability of free medical care. This study warrants extensive community-based education programs that may contribute toward cost savings. It also highlights the importance of premarital counselling for disease and carrier people including alternative reproduction options.

Occurrence of Transfusion Transmitted Infections Among Transfusion Dependent Thalassemia Patients in A Tertiary Care Hospital in India

Background: Blood transfusion is an important treatment modality in the modern health care system; however, transfusion transmitted infections(TTI) could be fatal or life-threatening in some cases.Objective: To determine the occurrence of transfusion transmitted infections among transfusion dependent thalassemia patients and to study the socio-demographic characteristics of the recipients.Methods: This hospital-based descriptive longitudinal studywas conducted between February 2019 and June 2020, on 102 transfusion-dependentthalassaemic patients receiving blood transfusion at Bankura Sammilani Medical College & Hospital, Bankura,West Bengal, India. They were tested for HIV, HBV, HCV, syphilis and malaria by ELISA (Enzyme Linked Immunosorbent Assay) Lisa Scan EM, Merilisa HBsAg, Merilisa HCV, RPR kit and Maleriscan malaria Pf/Pv.Results: Out of 102 patients, 5.90% were positive for TTI. The highest occurrence was found to be of HCV 3.90%. HBV and HIV showed similar occurrence of 0.98% and none came out positive for syphilis or malaria. The highest occurrence of TTI was found among females 66.7%. The average age of the participants was 7.97±3.27years. The average number of blood transfusion received per year was 11.95±2.71units. Majority of the participants belong to low socio- economic group family 62(60.8%). In respect to ethnicity 14.7%were tribal, while 85.3%were non-tribal population.Conclusion: The cause of high prevalence of HCV may be due to donors being asymptomatic in early stages and failure of detection due to window period of infection. More sensitive screening tests should be done for HIV, HBV, and HCV. All donors must be screened by NAT if not possible the patients must be screened for TTI regularly.Thalassemia patients being the most affected, premarital screening for thalassemia should be done.Every patient should be vaccinated with hepatitis B vaccine.International Journal of Human and Health Sciences Vol. 07 No. 02 April’23 Page: 171-175

Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study.

Consanguineous marriage (CM) is a prevalent kind of relationship in Muslim and Arab countries, and this type of relationship is linked to several health risks. This study was conducted to determine the prevalence of (CM), its associated hereditary diseases, and health-related issues among Saudi citizens in Albaha. This cross-sectional study was conducted between March 2021 to April 2021. Saudi citizens in Albaha who were aged ≥ 18 years and willing to participate were eligible for the study. A total of 1010 participants were included in this study. In total, 757 participants were married, widowed, or divorced. CM partnerships comprised 40% (N = 302) of the marriages among participants, of which first- and second-cousin marriages comprised 72% and 28%, respectively. The prevalence of CM among the participants' parents was lower than that among the participants (31% versus 40%, respectively). Children of participants in a CM were more likely to have cardiovascular diseases (p < 0.001), blood diseases (anaemia, thalassemia) (p < 0.001), cancer (p = 0.046), hearing loss and speech disorder (p = 0.003), and ophthalmic diseases (p = 0.037). Albaha showed a high percentage of consanguinity. An educational program must be established to enhance the population's knowledge of the consequences of CM. The current national premarital screening program should be extended to involve more screening tests for common hereditary diseases that result from CM.

Assessing knowledge of sickle cell disease and health beliefs on premarital genetic screening among healthcare trainees at a tertiary institution: A cross-sectional study.

The uptake of sickle cell trait (SCT) test is challenged by several factors. A community of healthcare professionals educating the public to undergo screening is critical in reducing the disease burden. We investigated knowledge and attitude towards premarital SCT screening among healthcare trainee students who are the next generation of healthcare practitioners. A cross-sectional design was employed, and quantitative data were collected from 451 female students pursuing healthcare programs at a tertiary institution in Ghana. Descriptive, bivariate, and multivariate logistic regression analysis was performed. More than half of the participants were 20-24 years (54.55%) and had good knowledge (71.18%) about sickle cell disease (SCD). Age and school or social media as sources of information were significantly associated with good knowledge about SCD. Students between the age 20-24 (adjusted odds ratio [AOR] = 2.54, confidence interval [CI] = 1.30-4.97) and knowledge (AOR = 2.19, CI = 1.41-3.39) were 3 times and 2 times more likely to have a positive perception about SCD severity. Students who have SCT (AOR = 5.16, CI = 2.46-10.82), whose source of information was family member/friends (AOR = 2.83, CI = 1.44-5.59) and social media (AOR = 4.59, CI = 2.09-10.12) were 5 times, 2 times and 5 times likely to have a positive perception about the susceptibility of SCD. Students whose source of information is school (AOR = 2.06, CI = 1.11-3.81) and who have good knowledge of SCD (AOR = 2.25, CI = 1.44-3.52) were 2 times more likely to have a positive perception about the benefits of testing. Students with SCT (AOR = 2.64, CI = 1.36-5.13) and source of information was social media (AOR = 3.01, CI = 1.36-6.64) were about 3 times more likely to have a positive perception about the barriers to testing. Our data shows that high level of SCD knowledge influences positive perceptions about the severity of SCD, the benefits and relatively low barriers to SCT or SCD testing and genetic counseling. Dissemination of SCT, SCD and premarital genetic counseling education should be intensified especially in schools.

Comprehension of premarital screening and genetic disorders among the population of Riyadh

ObjectivePremarital, unfortunately, does not cover all possible genetic diseases, such as deafness and congenital heart diseases, diabetes mellitus, and hypertension, nor does it cover unknown genetic mutations that may cause severe defects in subsequent generations. However, the Saudi population has limited knowledge regarding premarital screening tests, which do not detect all genetic disorders or diseases. Hence, we aimed to explore the knowledge and attitudes among the population of Riyadh toward premarital screening. MethodsA cross-sectional observational study was conducted with a self-administered designed questionnaire. The survey included questions regarding sociodemographic data, genetics, genetic testing, and premarital screening. All data were entered and analyzed in the statistical package SPSS version 22. ResultsA total of 385 participants responded to the questionnaire, and good knowledge among most participants was significantly associated with education level (p < 0.001), sex (p < 0.001), and prior screening (p = 0.001). The overall attitude was positive toward premarital screening, and significant associations of sex and social/marital status with a positive response to premarital screening were observed. ConclusionKnowledge and attitudes among the population of Riyadh toward premarital screening must be improved through national awareness programs. In light of our results, a need exists to provide more information and education regarding screening. Further studies must be conducted in urban areas to investigate the level of satisfaction with existing programs.

Role of premarital screening program in detection of hemoglobinopathies at Al Baha, Saudi Arabia

Background: Hemoglobinopathies are prevalent in Saudi Arabia. The use of high-performance liquid chromatography (HPLC) for screening of these disorders has recently been undertaken. This study was conducted to estimate the prevalence of hemoglobinopathies and evaluate the role of premarital screening centers among residents of Al Baha province, Saudi Arabia. Methods: This retrospective cohort study utilized the laboratory reports of couples attending the premarital screening centers for the screening and confirmation of hemoglobinopathies in Al Baha province, Saudi Arabia. We obtained data from four hospitals and three primary healthcare centers authorized to perform these screening tests. Results: The current study screened and analyzed a total of 2,165 reports for suspected hemoglobinopathies. Only 121 (5.6%) reports showed abnormal hemoglobin (Hb) patterns, among which the sickle cell trait was the most common, representing 59.5% (72/121) of the reported cases. This was followed by the β-thalassemia trait, Hb Lepore, sickle cell disease, and β-thalassemia major, accounting for 32.2% (39/121), 3.3% (4/121), 2.5% (3/121), and 2.5% (3/121), respectively. Conclusion: Sickle cell and β-thalassemia traits are the major hemoglobinopathies in Al Baha, Saudi Arabia. Premarital screening is an invaluable measure to prevent childbirth with severe Hb disorders. The use of HPLC in the screening process provides a rapid, reliable procedure for the identification of various Hb fractions.

Prevalence and spectrum of haemoglobinopathies in females of reproductive age group- A first tertiary care center experience in Punjab, North India.

Thalassemia and hemoglobinopathies are a group of inherited conditions characterized by abnormalities in the synthesis or structure of hemoglobin (Hb). According to estimates, approximately 7% of the world population is a carrier of Hb disorders, leading to high morbidity and mortality. To reduce the burden of these highly prevalent monogenic disorders, detecting them in the carrier stage is crucial to prevent disease progression. We aimed to estimate the prevalence and spectrum of hemoglobinopathies in females in the reproductive (20-40 years) age group. It was a retrospective observational study carried out for 2.5 years (from January 2018 till June 2020). All the females in the age group of 20-40 years age whose blood samples were received in the department for High-Performance Liquid Chromatography (HPLC) were included. The cases with abnormal HPLC findings were analyzed for hematological parameters including hemoglobin, RBC count, and RBC indices [mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), & red cell distribution width - coefficient of variation (RDW-CV)]. Statistical package for social science (SPSS) statistics 21 version for Microsoft Windows (Chicago, USA) was used for statistical analysis of data. The data were described in terms of range, mean ± standard deviation (SD), frequencies (number of cases), and relative frequencies (percentage) as appropriate. During the study period, 72.2% of the females were affected with β-thalassemia trait, followed by HbD Punjab trait (17.8%), HbQ India trait (2.9%), β-thalassemia major (1.8%), and two cases (1.2%) each of HbS trait, HbD Iran trait, and compound heterozygous of HbD Punjab and β-thalassaemia, whereas HbE trait, compound heterozygous of HbQ and β-thalassemia, compound heterozygous of HbJ-variant and β-thalassemia had one case each (0.6%). Preventive strategies are cost-effective and include population screening, premarital screening, screening of spouses, genetic counseling, and prenatal diagnosis. Educating the carrier females about the potential risk and various screening methods may help in controlling the disease.

A Rare Case of Hb Q India- An Uncommon Hemoglobin Variant

Hemoglobinopathies are the most common hereditary disorders in India and pose a major health problem. Both beta-thalassemia and structural hemoglobin (Hb) variants are relatively common in North-Western India. Here, we report a case of a 26-year-old female (caste-Lohana) who came to us for premarital screening hemoglobinopathy. A complete blood count was done on automated cell counter. Hb analysis was carried out using high-performance liquid chromatography (HPLC) Bio-Rad VARIANT II Hb Testing System. HPLC analysis showed a peak in the unknown window with retention time (RT): 4.72 min and area: 18.9% and S-window with RT: 4.33 min and area: 0.5%, which was suggestive of Hb Q India. Further workup was done on other family members also. And found that the mother and sister of the patient also had similar findings (Hb Q India) and the father of the patient was positive for beta-thalassemia trait. Hb Q India is a rare hemoglobinopathy, which presents in mostly heterozygous form. The inheritance of Hb Q India is autosomal dominant.

Knowledge and Attitudes towards Thalassemia among Public University Students in Bangladesh

Background: Thalassemia is the most common congenital single-gene condition globally, characterized by a lack of or reduced synthesis of either the α- or β-globin chains and passed down from parents to offspring. This study aimed to determine the level of knowledge of thalassemia among Bangladeshi students from universities and their opinion on prevention. Methods: A cross-sectional descriptive online survey was conducted on public university students in Bangladesh using a structured questionnaire between June and November 2020, completed by students online. Demographic characteristics, knowledge, and attitude of the participants were assayed with 10 questions on each topic. The data were analyzed using Python. Descriptive statistics methods such as frequencies and percentages were used to present data. Result: A total of 681 students participated in the online survey. The average age of the respondents in this study was 21.97 years, with a standard deviation of 2.9. Most of the students, 611(89.72%), had heard about Thalassemia, yet only 248 (36.42%) students had good knowledge of Thalassemia. The knowledge level of students had no significant relationship with sex (p-value = 0.0819), marital status (p-value = 0.2281), and year of study (p-value = 0.4619), but had a considerable difference with the field of study (0.0042). However, 478 (78.36%) participants showed a positive attitude toward "Premarital Screening" to prevent Thalassemia. Conclusions: Long-term and target-based preventive initiatives are recommended for university students and the general population of Bangladesh, where the rate of consanguineous marriage is high. These initiatives would provide crucial information and increase awareness of premarital screening and genetic counseling to prevent thalassemia.

Premarital Screening for Thalassemia Among Young Adults: A Study in Zabol, Sistan and Baluchistan Province of Iran

Introduction: There is a high prevalence of hemoglobinopathies, including thalassemia, in Sistan and Baluchistan province of Iran. It is important to appropriately screen young adults to control the birth of new cases of thalassemia. In many less-equipped centers, this practice only relies on cell blood count. This study investigated the hematological parameters of young adults referring to the Central Laboratory of Sistan, Zabol, for premarital screening for thalassemia. Methods: This was a descriptive cross-sectional study conducted in Zabol, Sistan and Baluchistan province of Iran from August 2020 to August 2021. Complete blood count (CBC) parameters of 2926 young adults were collected using a Sysmex KX-21 device and were compared with available reference intervals according to the Clinical and Laboratory Standard Institute. Results: The means of women’s and men’s age were 38.84±16.32 and 36.64±14.14 years, respectively. The average values for each parameter in the studied population were red blood cell (RBC) (4.78±0.55), hemoglobin (13.19±2.46 g/dL), hematocrit (40.11±3.57%), mean corpuscular volume (MCV) (85.16±28.33), neutrophil (52.12±9.98), lymphocyte (37.84±9.03), mixed leukocytes (10.00±3.51), platelets (244.02±62.32). The mean values of hemoglobin (14.48±5.17 vs. 12.69±1.39 g/dL), hematocrit (43.01±3.89 vs. 38.97±3.45%), serum ferritin (115.4±74.3 vs. 69.20±12.36 g/dL), total iron-binding capacity (316.84±1.38 vs. 320.95±41.01, P=0.01), and serum iron (85.05±28.51 vs. 76.25±28.22, P=0.02) were significantly lower in women than in men. Out of 2,926 people who entered this study, 195 (6.66%) were suspected of having thalassemia because of their low MCV (71.61±7.33 fL) and mean corpuscular hemoglobin (MCH) (23.67±2.66 pg). Conclusion: The relatively low hemoglobin in females referring for premarital screening for thalassemia awakens healthcare experts to carefully examine these cases for the possibility of thalassemia minor after excluding other common possible reasons such as iron deficiency anemia using iron studies and hemoglobin electrophoresis.

PREVALENCE OF SICKLE-CELL DISEASE IN SAUDI ARABIA: A SYSTEMATIC REVIEW

Background: A series of hemoglobinopathies known collectively as sickle cell disease (SCD) contain abnormalities in the gene encoding the beta component of haemoglobin. There are other subcategories that fall under the SCD umbrella, including sickle cell disease (SCD), haemoglobin SC disease (HbSC), and haemoglobin sickle-beta thalassemia (beta-thalassemia positive or beta-thalassemia negative). The prevalence of SCD varies greatly across Saudi Arabia, with the Eastern province having the greatest frequency and the southern regions having the second-highest prevalence. The reported sickle-cell prevalence ranges from 2% to 27%, and in some regions, up to 2.6% of people will have SCD.&#x0D; Objectives: The study aims to summarize current evidences regarding Prevalence of Sickle-Cell Disease in Saudi Arabia.&#x0D; Methods: For article selection, the PubMed database and EBSCO Information Services were used. All relevant articles relevant with our topic and other articles were used in our review. Other articles that were not related to this field were excluded. The data was extracted in a specific format that was reviewed by the group members.&#x0D; Conclusion: Although the prevenance of sickle cell anemia is relatively high due to multiple reasons such as consanguinity, the prevalence of genetic diseases in Saudi Arabia may be significantly lowered during the following decades as a result of premarital screening there. Also, acute chest syndrome in SCD patients is relatively infrequent in Saudi Arabia's Eastern Province, it nonetheless has a major impact on morbidity and death. If patients with African haplotypes are compared, it has a low prevalence and recurrence.

Study of Prevalence of Thalassemia trait among couples undergoing premarital examination in Al-Hamdaniya

Background and objectives:&#x0D; Thalassemia is the most common single genetic disorder. Being a preventable disease, the “premarital screening program” was established. The objective of the study was to determine the prevalence of β-thalassemia trait among couples attending a center for premarital screening in Al-Hamdaniya district.&#x0D; Material and methods:&#x0D; A cross-sectional study was carried out in Al-Hamdaniya district (located in the north of Iraq) during December 2019 through July 2020 that included 600 healthy couples screened for hemoglobinopathies. Complete blood count (CBC) and HB electrophoresis were done.&#x0D; Results:&#x0D; The prevalence of abnormal Hb F and Hb A2 was 4.8% and 5.8% respectively but the differences were not significant between males and females. No significant association was detected between the degree of consanguinity with the prevalence of Hb F and the prevalence of Hb A2. And there was no significant association between family history of haemolytic disease and the prevalence of Hb F and prevalence of Hb A2&#x0D; Conclusion:&#x0D; The prevalence of thalassemia trait in Al-Hamdaniya, like other cities in the north of Iraq is high, so premarital screening program is beneficial for identification and prevention of risky marriages.

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

BackgroundHereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway. Herein, we describe the clinical features and genetic characteristics of HT1 in a five years and seven months old Chinese patient.MethodsAfter clinical diagnosis of the proband with HT1, genetic testing was performed by Sanger sequencing of the FAH gene in all family members. Functional analysis of the disease-causing variant was performed by cDNA sequencing to understand the effect of the variant on FAH transcript. To further predict the variant effect, we used Human Splicing Finder (HSF) and PyMol in silico analysis.ResultsWe identified a novel previously undescribed intronic variant in the FAH gene (c.914-1G>A). It was detected in a child who was homozygous for the variant and had the clinical presentation of HT1. cDNA sequencing showed that this splice-junction variant affected the transcription of FAH by formation of two different transcripts. Our observations and laboratory experiments were in line with in silico methods.ConclusionsOur study provides new insight into the HT1 variant spectrum and a better understanding of this disease in the Chinese population. This will be useful for molecular diagnosis in our country in cases where premarital screening, prenatal diagnosis and preimplantation genetic diagnosis are planned.