Explore the vast range of titles available.

Genetic disorders have psychological impacts on patients. We examined the status of anxiety and depression among thalassemia carriers after genetic counseling in Taizhou, Zhejiang Province, China. From June 2017 to April 2021, 131 thalassemia carriers ≥ 12 years old received genetic counseling, and were issued questionnaires; among them, 82 (62.6%) questionnaires were completed and returned. We assessed anxiety and depression levels in thalassemia carriers using the Hospital Anxiety and Depression Scale (HADS) to obtain clinical indicators from the hospitals. We used nonparametric tests or Spearman correlation analysis to assess the correlations between anxiety, depression, and the independent variables. The frequencies of anxiety and depression were both 3.7%. Participants with more than a high school education had lower depression scores than those with less education (P = 0.005). Red blood cell count (RBC) counts was negatively correlated with depression scores (r = -0.274, P = 0.043). Furthermore, total cholesterol (TC) was negatively correlated with anxiety (r = -0.374, P = 0.017) and depression (r = -0.379, P = 0.016) scores. The frequencies of anxiety and depression among thalassemia carriers receiving genetic counseling in Taizhou were both 3.7%, lower than those previously reported. These preliminary findings suggest a potential association between genetic counseling and reduced psychological distress. In addition, we found RBC and TC negatively affect mental status in thalassemia, these carriers need to pay attention to their diet and undergo regular monitoring.

Thalassemia is a hereditary blood disorder that can impact fertility due to various factors such as iron overload and endocrine disruption. While the effects of iron overload on fertility outcomes in transfusion-dependent thalassemia (TDT) have been well-documented, there is limited data on how NTDT affects assisted reproductive technology (ART) outcomes. This study aims to assess the fertility and pregnancy outcomes of NTDT patients compared to thalassemia carriers (TC) patients in IVF and frozen embryo transfer (FET) cycles. This retrospective cohort study analyzed 6,911 female patients who underwent autologous IVF treatment at a private reproductive center between January 2013 and December 2022. The study included women who were carriers of thalassemia or diagnosed with NTDT. ART outcomes, including oocyte retrieval rate, embryo development (maturation rate, number of fertilized oocytes and blastocyst formation rate), clinical pregnancy rate, live birth rate, and miscarriage rate, were compared between NTDT and TC patients. Propensity score matching (PSM) and multivariable adjustments for potential confounders were applied in the statistical analyses. NTDT patients had a significantly lower oocyte retrieval rate (0.88 vs. 0.93, p < 0.05) and a longer interval from medication initiation to oocyte retrieval (13.35 days vs. 12.38 days, p < 0.05) compared to TC patients. However, NTDT patients exhibited higher oocyte maturation rates and a greater number of fertilized oocytes. Despite these differences in embryo development metrics, there were no statistically significant differences in clinical pregnancy rates and live birth rates between NTDT and TC patients in both fresh embryo transfer (IVF-ET) and FET cycles (p > 0.05). These findings suggest that while NTDT may affect certain aspects of embryo development, it does not significantly impact overall pregnancy outcomes in ART. This study provides valuable insights into ART outcomes for NTDT patients, showing that, despite challenges in oocyte retrieval, their fertility and pregnancy outcomes are comparable to those of thalassemia carriers. Clinicians should consider individualized treatment plans and provide comprehensive counseling for NTDT patients, focusing on their specific fertility characteristics, to optimize ART outcomes. Further research is needed to explore the underlying mechanisms affecting embryo development in NTDT patients and to confirm these findings in broader populations.

Background India has the most significant number of children with thalassemia major worldwide, and about 10,000-15,000 children with the disease are born yearly. Scaling up e-health initiatives in rural areas using a cost-effective digital tool to provide healthcare access for all sections of people remains a challenge for government or semi-governmental institutions and agencies. Methods We compared the performance of a recently developed formula SCS BTT and its web application SUSOKA with 42 discrimination formulae presently available in the literature. 6,388 samples were collected from the Postgraduate Institute of Medical Education and Research, Chandigarh, in North-Western India. Performances of the formulae were evaluated by eight different measures: sensitivity, specificity, Youden’s Index, AUC-ROC, accuracy, positive predictive value, negative predictive value, and false omission rate. Three multi-criteria decision-making (MCDM) methods, TOPSIS, COPRAS, and SECA, were implemented to rank formulae by ensuring a trade-off among the eight measures. Results MCDM methods revealed that the Shine & Lal and SCS BTT were the best-performing formulae. Further, a modification of the SCS BTT formula was proposed, and validation was conducted with a data set containing 939 samples collected from Nil Ratan Sircar (NRS) Medical College and Hospital, Kolkata, in Eastern India. Our two-step approach emphasized the necessity of a molecular diagnosis for a lower number of the population. SCS BTT along with the condition MCV ≤ 80 fl was recommended for a higher heterogeneous population set. It was found that SCS BTT can classify all BTT samples with 100% sensitivity when MCV ≤ 80 fl. Conclusions We addressed the issue of how to integrate the higher-ranked formulae in mass screening to ensure higher performance through the MCDM approach. In real-life practice, it is sufficient for a screening algorithm to flag a particular sample as requiring or not requiring further specific confirmatory testing. Implementing discriminate functions in routine screening programs allows early identification; consequently, the cost will decrease, and the turnaround time in everyday workflows will also increase. Our proposed two-step procedure expedites such a process. It is concluded that for mass screening of BTT in a heterogeneous set of data, SCS BTT and its web application SUSOKA can provide 100% sensitivity when MCV ≤ 80 fl.

Abstract Background India has the most significant number of children with thalassemia major worldwide, and about 10,000-15,000 children with the disease are born yearly. Scaling up e-health initiatives in rural areas using a cost-effective digital tool to provide healthcare access for all sections of people remains a challenge for government or semi-governmental institutions and agencies. Methods We compared the performance of a recently developed formula SCS $$_{BTT}$$ BTT and its web application SUSOKA with 42 discrimination formulae presently available in the literature. 6,388 samples were collected from the Postgraduate Institute of Medical Education and Research, Chandigarh, in North-Western India. Performances of the formulae were evaluated by eight different measures: sensitivity, specificity, Youden’s Index, AUC-ROC, accuracy, positive predictive value, negative predictive value, and false omission rate. Three multi-criteria decision-making (MCDM) methods, TOPSIS, COPRAS, and SECA, were implemented to rank formulae by ensuring a trade-off among the eight measures. Results MCDM methods revealed that the Shine & Lal and SCS $$_{BTT}$$ BTT were the best-performing formulae. Further, a modification of the SCS $$_{BTT}$$ BTT formula was proposed, and validation was conducted with a data set containing 939 samples collected from Nil Ratan Sircar (NRS) Medical College and Hospital, Kolkata, in Eastern India. Our two-step approach emphasized the necessity of a molecular diagnosis for a lower number of the population. SCS $$_{BTT}$$ BTT along with the condition MCV $$\\le$$ ≤ 80 fl was recommended for a higher heterogeneous population set. It was found that SCS $$_{BTT}$$ BTT can classify all BTT samples with 100% sensitivity when MCV $$\\le$$ ≤ 80 fl. Conclusions We addressed the issue of how to integrate the higher-ranked formulae in mass screening to ensure higher performance through the MCDM approach. In real-life practice, it is sufficient for a screening algorithm to flag a particular sample as requiring or not requiring further specific confirmatory testing. Implementing discriminate functions in routine screening programs allows early identification; consequently, the cost will decrease, and the turnaround time in everyday workflows will also increase. Our proposed two-step procedure expedites such a process. It is concluded that for mass screening of BTT in a heterogeneous set of data, SCS $$_{BTT}$$ BTT and its web application SUSOKA can provide 100% sensitivity when MCV $$\\le$$ ≤ 80 fl.

BackgroundScreening of β thalassemia among close relatives is more feasible in highly prevalent countries with limited resources. The purpose of this study is to determine the prevalence of β thalassemia carriers and iron deficiency anemia among relatives of β thalassemia patients in Mid Delta, Egypt.MethodsThis is a cross-sectional multi-center study conducted on 2118 relatives of patients with β thalassemia from different Egyptian governorates in the Mid Delta region. They were subjected to history taking with precise determination of geographic location, general examination, and the following investigations: complete blood counts, serum ferritin for those who showed microcytic hypochromic anemia, and high-performance liquid chromatography for those who were not diagnosed as iron deficiency anemia.ResultsThe total prevalence of iron deficiency anemia among close relatives of confirmed β thalassemia patients in the Nile Delta region was 17.19%. The highest prevalence of iron deficiency anemia (45.05%) was reported in Al-Gharbia Governorate, followed by Al-Menoufia Governorate (21.67%), and the lowest prevalence was that of Al-Sharkia Governorate (4.91%). The differences were highly statistically significant (p < 0.001). β thalassemia carrier prevalence rate in the studied relatives was 35.84%, with the highest prevalence detected in Al-Sharkia Governorate (51.32%), followed by Kafr-Alsheikh and Al-Dakahilia Governorates (41.78%, 37.13%) respectively, while Al-Menoufia Governorate had the lowest prevalence rate (25.00%). These differences were also highly statistically significant (p < 0.001).ConclusionMore than one-third of relatives of patients with β thalassemia are carriers of the disease, while 17.19% suffer from iron deficiency anemia. This study demonstrates the importance of tracing the high number of beta thalassemia carriers among relatives of patients with β thalassemia in Egypt.

[LANGUAGE= \"English\"] INTRODUCTION: The aim of this study was to determine the prevalence of the thalassemia disease group in Balikesir Province, Turkey.METHODS: Blood samples provided by 11,558 individuals (5675 males and 5883 females) aged 3-90 years between May 15, 2018 and September 30, 2019 for laboratory analysis at the Balikesir Provincial Public Health Laboratory were included in the study. Hemoglobin chain analyses were carried out using the high-performance liquid chromatography (HPLC) method. The data obtained were analyzed retrospectively.RESULTS: The level of hemoglobin (Hb) A2 was >3.5% in 591 (5.11%) of the total study group and these individuals were identified as β-thalassemia carriers. The prevalence of the β-thalassemia trait was 5.76% in females and 4.44% in males. A total of 792 cases (446 female and 346 male) had a result outside the normal range: 74.6% were identified as thalassemia carriers, 9.4% had isolated low Hb A2, 12.3% had isolated Hb F elevation, and 3.8% had total abnormal hemoglobin values.DISCUSSION AND CONCLUSION: The prevalence of β-thalassemia trait (5.11%) in the study group was extrapolated for the general population of Balikesir (2019 population: 1,228.620 ) and it was estimated that there were 62,782 potential carriers in the province.

Background: Himachal Pradesh is a hill state in North India in the Western Himalayas. β-thalassemia is a genetic disorder of hemoglobin inherited in an autosomal recessive manner that results in defective globin production leading to the early destruction of red blood cells. β-thalassemia has long been neglected in Himachal Pradesh due to popular belief that it runs along \"Lahore-Gujarat-Punjab\" belt in India. Therefore, there is no β-thalassemia testing facility currently in the state. Methods: To estimate the prevalence of β-thalassemia carriers, we calculated the sample size based on probability proportional to size self-weighing design. In each of 20 selected colleges, 111 students having an age of 18-25 were tested for high-performance liquid chromatography (HPLC) and complete blood count. Some were further tested for the mutations. We computed sensitivity, specificity, positive predictive value (PPV) and negative predictive value, and receiver operating characteristic curve for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) red cell parameters. Results: Of the 2220 students, 57 were found to be β-thalassemia carrier by HPLC. The overall prevalence rate was 2.6% which translates to probable 180,000 β-thalassemia carriers in Himachal Pradesh. Six districts bordering highly endemic Punjab had a higher prevalence. Hemoglobin D-Punjab, Heterozygous-Iran Trait, and raised fetal hemoglobin were found. Thalassemia major and sickle cell disease were not found. Anemic status or MCV/MCH parameters were not found to be reliable predictors of thalassemia carrier status among the healthy populations of HP. The predominant mutation found was IVS 1-5 G > C. Conclusion: Popular ongoing strategy for screening with MCV and MCH has low-PPV and can miss upto 37% of true thalassemia carriers. HPLC is better strategy for screening carriers and reduces further spread of thalassemia.

Introduction: Elevated HbA2 (hemoglobin A2) level is considered the most reliable hematological parameter for the detection of β-thalassemia carriers. However, some carriers are difficult to recognize because the level of HbA2 is not in the distinctive carrier range, i.e. 4.0–6.0%; instead, some carriers have HbA2 levels between normal and carrier levels, i.e. borderline HbA2 (HbA2 = 3.1–3.9%). Studies have shown that variations in the erythroid Krüppel-like factor (KLF1) gene lead to borderline HbA2 in β-thalassemia carriers from various populations. The incidence of borderline HbA2 in Saudis is high.Material and methods: To confirm the influence of variations in KLF1, HBA1, HBA2 and HBB genes for the reduction of the level of HbA2 in Saudi β-thalassemia carriers, we performed a direct sequence analysis of KLF1, HBA1, HBA2 and HBB genes from 212 healthy Saudis (88 subjects: HbA2 < 3; 72 subjects: HbA2 = 3.1 to 3.9; 52 subjects HbA2 > 4.3).Results: The presence of the borderline HbA2 level is not specific to any type of β-thalassemia variation or β+-thalassemia variations in Saudis. Two exonic (c.304T>C and c.544T>C) and two 3 untranslated region (3UTR) (c.*296G>A and c.*277C>G) variations have been identified in the KLF1 gene for the first time from an Arab population. None of these four variations in KLF1 genes are significantly associated with the Saudis with borderline HbA2. α Globin genotype, –α23.7/α1α2, is found to be the most frequent (55.55%) among healthy Saudis with borderline HbA2 compared with the other groups (HbA2 < 3 = 20.45%; HbA2 > 4.3 = 13.51%).Conclusions: Further studies are necessary to determine the influence of other factors on the presence of borderline HbA2 in 41.67% of Saudis.

Introduction: Beta-thalassemia is the most severe form of thalassemia major in which where the person needs regular blood transfusions and medical cares. The genetic experiment of prenatal diagnosis (PND) has been effective in the diagnosis of fetus with thalassemia major. This study was aimed to evaluate educational interventions on perceived susceptibility, perceived severity, perceived benefits, perceived barriers, cues to action and self-efficacy in beta-thalassemia carriers and suspected couples on doing a PND genetic test in Andimeshk. Materials and Methods: In this quasi-experimental study, 224 beta-thalassemia carriers and suspected couples were randomly assigned to intervention and control groups. The data were collected using a researcher-made validated questionnaire using the self-administrated method. Before the intervention, questionnaires for both groups were completed, and then, an educational intervention was done for the intervention group during a month in four sessions for 30 min. After 2 months, the questionnaire was completed again by both groups. Data were analyzed using SPSS software version 20. Results: There was no significant difference in the mean score of health belief model (HBM) variables and behavior between intervention and control groups before intervention (P < 0.05). However, after the educational intervention, the significant statistical difference in the mean score of perceived sensitivity, perceived severity, perceived benefits, perceived barriers, guidance for action, self-efficacy, and behavior of PND β-thalassemia genetic tests was observed between the intervention and control groups. (P < 0.001). Conclusion: Educational programs based on HBM can increase HBM constructs, behavior, and self-efficacy of beta-thalassemia carrier couples for doing beta-thalassemia PND.