A Case Report of a Teaspoon Portion of Fava Beans Caused Severe Hemolysis in G6PD-Deficient Baby: Time to Include G6PD Enzyme Testing in the Premarital Screening Program and Newborns

To explore clinical features and laboratory data of glucose-6-phosphate dehydrogenase（G6PD）deficiency and to investigate the relationship between them. Clinical data of 43 patients with G6PD deficiency was analyzed, the statistical method was applied to investigate the relationship between clinical features and laboratory data. Among 43 patients，neonatal jaundice occurred as the first symptom in 10 cases，while acute hemolytic anemia occurred as the first symptom in 23 cases. The major clinical symptoms of G6PD deficiency included icteric skin and/or sclera，dark urine，fever，gastrointestinal symptoms，fatigue and lethargy. Symptoms of 26 patients were caused by obvious inducement，including fava beans（61.5%），infection（34.6%）and miocardial infarction（3.8%）. All of 43 patients showed decreased G6PD activity，while the level of their indirect serum bilirubin（IBIL）was positively correlated with reticulocyte percentage（Ret%，r=0.5881，P=0.013） and mean corpuscular volume（MCV，r=0.6854，P=0.0024）. Patients with neonatal jaundice as the first symptom，showed higher level of Ret%（P<0.01）and MCV（P<0.001）and low RBC count（P<0.01）and low Hb level（P<0.01）. as compard with patients with acute hemolytic anemia as first symptome. Neonatal jaundice and acute hemolytic anemia are common clinical features of G6PD deficiency. Laboratory results of IBIL，Ret% and MCV have auxiliary value to evaluate the severity of hemolysis induced by G6PD deficiency. Patients with neonatal jaundice as their first symptom show more severe hemolysis than those only suffered from acute hemolytic anemia.

Dear Editor, Hemoglobinopathies are the most common recessively inherited single-gene genetic disorders around the world. Thalassemia is a genetic blood disorder that can be prevented. It has a high incidence rate in Mediterranean, Middle Eastern, and South Asian populations, making it the most prevalent genetic blood disorder globally.(1) The high prevalence of hemoglobinopathies is a significant public health concern. Pakistan has an estimated 10 million carriers of B-Thalassemia, with 5-7% carrier rate.(2) Every year, around 5000 children are diagnosed with B-Thalassemia major. Poverty, early marriages, consanguinity, limited awareness, rapid population growth, insufficient healthcare resources, and the scarcity of safe blood supplies exacerbate this issue. Practical strategies for mitigating the thalassemia burden have been implemented worldwide, providing healthcare professionals and the public with accurate information, counseling families, and premarital screening. Thalassemia screening before marriage has proven to be successful in other regions. In the MENA region, various countries have implemented premarital screening programs to prevent hemoglobinopathies and viral infections, proving immensely successful.(3) In Saudi Arabia, a reduction of over 70% in the prevalence of B-Thalassemia was documented six years after the introduction of the premarital screening program.(4) Similarly, a premarital screening program in Kuwait prevented the marriage of 50.4% of couples at risk over eleven years by issuing unsafe marriage certificates.(5) The success of premarital thalassemia screening programs in other countries is a testament to the potential of preventive measures. These international examples offer valuable insights on how Pakistan can alleviate the burden of thalassemia within its population. While increasing awareness among parents and families is crucial, a more comprehensive approach is necessary. Pakistan must focus on preventing the disease and introduce strict laws mandating premarital screening nationwide. Given the gravity of the thalassemia crisis in Pakistan and the proven success of premarital screening in other regions, the imperative for a nationwide mandate on premarital thalassemia screening cannot be overstated. Such legislation has the potential to substantially reduce the incidence of thalassemia by identifying carrier couples early in their relationship, thereby preventing high-risk marriages. By enacting and enforcing these laws, Pakistan can proactively address the root causes of this health issue and pave the way for a healthier and more informed future.

Background:Studies in Arab countries have shown a significant lack of knowledge of Premarital Screening and Genetic Counseling (PMSGC) Program. PMSGC can identify and modify, through prevention and management, some behavioral, medical, and other health risk factors known to impact pregnancy outcomes.Objective:The aim of this study was to explore the knowledge, attitudes, and practice of Qatari's toward the premarital screening program and shedding more light on a complex matter.Materials and Methods:A cross-sectional study based on Hospitals and Primary Health Care Centers. A total sample of 1246 participants was surveyed, and 873 participants (70.0%) expressed their consent to participate in the study during January 2013–May 2014. The questionnaire based on sociodemographic data and for responses, on the PMSGC program knowledge, attitude, and practice statements. In addition, questions were asked regarding the services, activities, and how to attract and motivate the PMSGC program.Results:The mean age and standard deviation (SD) of the males' age were 30.4 ± 6.50 and the mean and SD of females' age were 31.08 ± 5.98. There were statistically significant differences between males and females with regard to age, educational status, occupation status, household income, consanguinity, body mass index, cigarette smoking, and Shisha smoking. There were no any statistically significant differences between males and females regarding sickle cell anemia and thalassemia, glucose-6-phosphate dehydrogenase deficiency cystic fibrosis, homocystinuria, HIV, and hepatitis. The response to the ''Why proceeding through high-risk marriage?'' by gender, males and females responded statistically significant differences (P = 0.019). The step-wise multivariate regression analyses as predictors for knowledge of PMSGC program revealed that age, educational level, the lack knowledge of genetics counseling, parental interventions for cousin marriage decision, positive test results affect and change marriage decision, religious impact, household income, consanguinity, hereditary diseases knowledge, occupational status, and love factors were considered as the main factors associated with the premarriage screening and genetics counseling after adjusting for age, gender, and other variables.Conclusion:The current study revealed that knowledge and attitude regarding PMSGC program were low in population. Motivation, enforcement, and implementation of program at the school and university educational campaigns are vital. Improved counseling and adding new topics for counseling on genetic, chronic, and mental illness; building healthy families; and reproduction and fertility are considered to be top priorities in community.

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

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

The prevalence of genetic blood disorders is high, ranging from 10-25%, in Kuwait. This high prevalence is mainly due to a preventable cause, namely, consanguineous marriages. One of the most successful programs in Kuwait implemented to reduce such high prevalence is premarital screening program. The aim of the study was to determine the level of knowledge, attitude and satisfaction among university students regarding premarital screening program, and to find out the factors influencing knowledge, attitude, and satisfaction of the people toward premarital screening program. A cross-sectional study was conducted among 809 students of Kuwait University during July-October 2016. A self-administered questionnaire including 51 questions was handed out to the participants after taking informed consent. The main outcome variables of this study were: knowledge of hereditary diseases, premarital screening, attitude, and satisfaction toward premarital screening program. The mean ± SD of knowledge score about hereditary diseases was 5.80 ± 2.9 out of a total of 14, and the knowledge score for premarital screening was 3.99 ± 1.2 out of 6. In univariate analysis, knowledge scores about hereditary diseases were significantly associated with marital status (P = 0.043), education in medical faculties (P < 0.001), higher education of father (P = 0.027), higher education of mother (P = 0.001), and presence of hereditary disease in the family (P = 0.003). The level of attitude toward premarital screening program was significantly associated with female gender (P < 0.001), marital status (P = 0.023), higher years of study (P = 0.002), higher family income (P = 0.019). In multivariate analysis, education in medical faculties and presence of hereditary disease in the family were significant predictors of knowledge about hereditary disease. This study identified some demographic factors which determined the outcome of knowledge about premarital screening and hereditary disease. Also, the study demonstrated that more than 90% of the people were not satisfied about the premarital screening program, and more than 70% had to wait for a long time before receiving the test results. These areas of dissatisfaction should be improved for a successful program.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency anemia is the most common metabolic red cell abnormality worldwide. G6PD deficiency anemia is very common in Saudi Arabia. Objective: The aims of the current study were to evaluate and assess knowledge and awareness about G6PD deficiency anemia and to find any association between sociodemographic variables and knowledge about this disease in the Saudi population in Jazan region. Materials and Methods: A cross-sectional descriptive study was conducted at Jazan University. Results: A total of 709 individuals completed the questionnaire and were considered in the study. In general, the study population had overall fair knowledge, scoring 50% or above on all domains of the study. In addition, we found a significant association between sociodemographic variables, specifically gender, family income and education level, and knowledge/awareness of G6PD deficiency anemia. Conclusion: Our study found fair to good knowledge of G6PD itself, but not of the mode of inheritance among the study population. The study suggests that public health campaigns and screening programs should be conducted and established to screen for these disorders at younger ages, instead of only relying on premarital screening program.

Neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency was established in a large general hospital in the Eastern Province of Saudi Arabia. During the first 2 years of ...

Intravascular Hemolysis and Acute Renal Failure After Mitral and Aortic Valve Repair

Background: Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is one of the most common inherited disorders of mankind; more than 400 million people are affected worldwide, and it is a major health problem in Egypt.Aim of Work: To study some predictors of severe hemolysis in children with glucose-6-phosphate dehydrogenase deficiency and the degree of DNA damage in these patients.Patients and Methods: Seventy-two patients with G6PD deficiency admitted with acute hemolytic attacks to Diarb Negm Central Hospital-Sharkia Governorate, Egypt-over a period of 1 year from 1st May 2014 to 30th April 2015. We collected demographic data, details of signs and symptoms; special attention was given to history of fava bean ingestion, history of drug use or history of recent infection, history of neonatal jaundice, family history of G6PD deficiency disease, abdominal pain, vomiting or fever at admission and the results of tests for hemoglobin, reticulocytic count, hepatic function, G6PD enzyme activity and detection of DNA damage by DNA extraction, purification and agarose gel electrophoresis. We classified patients into mild and severe groups based on hemoglobin levels at admission. The mild cases were consid-ered as the control group.Results: 72 children with G6PD deficiency admitted with acute hemolytic attacks were included in this study, 52 (72%) patients with severe hemolysis and 20 (28%) patients with mild hemolysis (control group). There were no statistically significant differences in many factors between the two groups, but some factors were detected to have statistical significance for severe hemolysis included younger age (p<.0001), male gender (p<.0001), presence of fever at admission (p<.0001), presence of vomiting (p<.0001) and abdominal pain (p<.0001) during the attack, higher Alkaline Phosphatase (ALP) (p <.0001), Aspartate Aminotransferase (AST) (p<.0001), Lactate Dehydrogenase (LDH) (p<.0001) and Total Serum Bilirubin (TSB) (p<.05). DNA damage was significantly higher in the severe cases compared to the mild cases (p<.0001).Conclusion: Severe hemolysis can be predicted during hemolytic episodes in children with G6PD deficiency by young age, male gender, the presence of abdominal pain, vomiting and fever, high levels of ALP, AST, LDH enzymes and elevated TSB. This severe hemolysis predisposes patients to higher degree of DNA damage.

A report of Hb Fontainebleau [α21 (B2) Ala > Pro] as a result of founder effect phenomenon

Premarital screening programs are essential for identifying and providing counseling to couples at risk of transmitting genetic diseases or sexually transmitted infections. Despite their importance, university students' awareness and knowledge of premarital screening programs remain inadequate. This study aimed to evaluate the knowledge, perceptions, and attitudes of university students in the Kurdistan Region of Iraq regarding premarital screening programs. A cross-sectional survey involving 960 students was conducted from December 2023 to February 2024. The survey assessed participants' demographics, knowledge, perception, and attitudes toward PMSP using a structured questionnaire. Findings revealed that a significant portion of participants (39.4%) had poor knowledge of premarital screening programs, 35.9% had fair knowledge, and only 24.7% had good knowledge. Despite limited knowledge, there was strong support for premarital screening programs, with 83.1% agreeing on its importance and 78.8% recognizing the need for premarital awareness. Most participants (65.8%) believed premarital screening programs could reduce genetic diseases, and 65.6% thought it could lower sexually transmitted diseases' prevalence. Cultural acceptance of marrying relatives was notable, with 59.7% disagreeing with the preference for not marrying relatives. Married participants showed significantly higher knowledge and attitude scores compared to single participants. Gender differences were observed, with males having higher knowledge scores. There were no significant differences in perception and attitude scores based on gender or residential area. The study underscores the need for enhanced educational campaigns to improve premarital screening programs awareness and positively influence attitudes, especially targeting cultural aspects like accepting relative marriages. Comprehensive education and fostering positive attitudes toward premarital screening programs are vital for their broader acceptance and implementation.

Premarital screening programs are essential for identifying and providing counseling to couples at risk of transmitting genetic diseases or sexually transmitted infections. Despite their importance, university students’ awareness and knowledge of premarital screening programs remain inadequate. This study aimed to evaluate the knowledge, perceptions, and attitudes of university students in the Kurdistan Region of Iraq regarding premarital screening programs. A cross-sectional survey involving 960 students was conducted from December 2023 to February 2024. The survey assessed participants’ demographics, knowledge, perception, and attitudes toward PMSP using a structured questionnaire. Findings revealed that a significant portion of participants (39.4%) had poor knowledge of premarital screening programs, 35.9% had fair knowledge, and only 24.7% had good knowledge. Despite limited knowledge, there was strong support for premarital screening programs, with 83.1% agreeing on its importance and 78.8% recognizing the need for premarital awareness. Most participants (65.8%) believed premarital screening programs could reduce genetic diseases, and 65.6% thought it could lower sexually transmitted diseases’ prevalence. Cultural acceptance of marrying relatives was notable, with 59.7% disagreeing with the preference for not marrying relatives. Married participants showed significantly higher knowledge and attitude scores compared to single participants. Gender differences were observed, with males having higher knowledge scores. There were no significant differences in perception and attitude scores based on gender or residential area. The study underscores the need for enhanced educational campaigns to improve premarital screening programs awareness and positively influence attitudes, especially targeting cultural aspects like accepting relative marriages. Comprehensive education and fostering positive attitudes toward premarital screening programs are vital for their broader acceptance and implementation.

There is an elevated rate of hereditary hemoglobinopathies in Arab populations. To address this, the Saudi government has implemented a mandatory premarital screening (PMS) program. Nevertheless, reports have shown that 48% of genetically incompatible partners have decided to marry. To address this, more information is needed on people's beliefs on these issues. To investigate the knowledge, attitudes, and practices of Taif University students towards the national PMS program. Using a questionnaire, a cross-sectional study was conducted during April-May 2016 on a random sample of university students in Taif City. It was administered electronically and primarily distributed through social media. Most participants (97.4%) were aware that genes may transmit hereditary diseases and had heard about the PMS program. Most participants who partook in the PMS justified it based on preventing disease transmission to their offspring and ensuring their partner's health. A fair number (82.9%) were willing to change their decision to marry in the case of receiving incompatible results. Moreover, the majority of the participants (91.8%) demanded the implementation of a law that prohibits incompatible marriages. Most Taif University students have a generally positive attitude and good intended practices toward PMS. However, targeted educational programs about the importance of PMS are strongly recommended to eliminate all factors that may affect the success of the PMS program.

Intermediate values of glucose-6-phosphate dehydrogenase