Aims: HbE/β-thalassemia is the most prevalent form of severe β-thalassemia in Asian countries. Hydroxyurea (HU) is the most common drug used for the management of sickle-cell anemia but not thalassemia. In this study, we aimed to assess clinical HU response among the Bengali HbE/β-thalassemia patients with respect to the Xmn I γ ^G globin polymorphism and elucidate the association between this polymorphism and HU response efficacy. Materials and Methods: We enrolled 49 transfusion-dependent patients with HbE/β-thalassemia. Fetal hemoglobin levels were measured using high-performance liquid chromatography and complete blood counts were determined pre- and post-HU therapy. Polymerase chain reaction-restriction fragment length polymorphism analyses were performed for genotyping the Xmn I γ ^G globin polymorphism. Results: A total of 30 (61.22%) patients were found to be responders, whereas the remaining 19 (38.78%) were nonresponders. We found 33 patients with the heterozygous (C/T) and three with the homozygous mutant (T/T) genotype status. We obtained a statistically significant correlation ( p < 0.001) between the Xmn I polymorphism genotype and transfusion-free interval. Patients with the Xmn I polymorphism were found to be good responders for HU therapy and showed increased hemoglobin levels. Conclusions: Our findings indicate that HU is a potential drug candidate for thalassemia management, particularly for HbE/β-thalassemia. These results hold implications in repurposing HU as an effective and efficient therapy for HbE/β-thalassemia.

Thalassemia is the most common inherited hemoglobinopathy worldwide. Variation of clinical symptoms in this hemoglobinopathy entails differences in disease-onset and transfusion requirements. The aim of this study was to investigate the role of α-globin gene deletions in modulating the clinical heterogeneity of β-thalassemia (β-thal) syndromes. A total number 270 β-thal subjects were enrolled. Hematological parameters were recorded. β-Globin mutations were determined by amplified refractory mutation system-polymerase chain reaction (ARMS-PCR), gap-PCR and Sanger sequencing. α-Globin gene deletions were determined by multiplex PCR. Out of 270 β-thal subjects, 19 carried β⁺/β⁺, 74 had β⁰/β⁰ and 177 had the β⁰/β⁺ genotype. When we determined the severity of the different β-thal subjects in coinherited with the α gene deletion, it was revealed that, 84.2% β⁺/β⁺ subjects carried a non severe phenotype and did not have an α gene deletion. Of the β⁰/β⁰ individuals, 95.9% presented a severe phenotype, irrespective of α-globin gene deletions. In cases with the β⁰/β⁺ genotype, 19.2% subjects also carried a deletion on the α gene. Of these, 61.8% presented a non severe phenotype and 38.2% were severely affected. Only in the β⁰/β⁺ category did α gene deletions make a significant contribution (p < 0.001) toward alleviation of clinical severity. Therefore, it can be stated that α-globin gene deletions play a role in ameliorating the phenotype in patients with a β⁺/β⁰ genotype.

Deferiprone (DFP) and deferasirox (DFX) are the most well-known, efficacious and safe chelators to reduce the serum ferritin (SF) level in multi transfused thalassemic children, although there are few reports available for assessing the efficacy between DFP and DFX. We compared the efficacy of DFP vs. DFX as iron chelating drugs in β-thalassemia major (β-TM) patients. Pediatric patients diagnosed to carry β-TM, aged between 2 and 10 years, were recruited. A suitable data collection form and questionnaire were used. Paired and unpaired t-tests were used to compare the safety and efficacy of the chelating drugs DFP and DFX. The mean SF level at the 12th month was found to be 3016.73 ± 670.04 ng/mL (p = 0.002) in the DFX-treated group, which was quite significant in contrast to DFP response, where the value was 3204.06 ± 690.15 ng/mL (p = 0.14). There is no statistically significant (p = 0.15) difference on relative changes of the left ventricular ejection fraction (LVEF), between these two groups. The adverse effects were transient and none of them required stoppage of therapy. Deferasirox is more effective when compared to DFP in reducing chelating drug-related complications and iron overload specially in multiple transfusion dependent β-TM patients.

The sudden outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the year 2020, has had an impact on different fields of the human life including health sciences, economics, societies and international relations. Science and technology play a crucial role in fighting this ‘war without smoke’. The enormous power of science to manage the critical situation, arises during a pandemic and reminds us that by promoting scientific cultures we can overcome the situation. We must have faith on science in high regard. Although technology will not be able to restrict the onset of a pandemic; nevertheless, it can assist in dealing the emergency more effectively. During this time of sheer uncertainty and constant anxiety, our preparedness to adopt technology has been our lifeline. Certain applications of innovative approach of science and technology include distance learning, contact tracing applications, contactless online deliveries, dissemination of information, technology- based health services. Covid-19 has proved that technology innovations have been assisting in managing the epidemic in a timely, systematic, and peaceful manner. A moral learnt from the Covid-19 pandemic has been to stay well prepared in advance against any crisis at both an individual and national level. Progression in technology is steadily advancing; it will unquestionably continue to grow exponentially. We have to adapt changes in technology faster and continue to invest in building the technology systems for better awareness.

Background: The etiology of congenital heart disease (CHD) is still not known properly. The variant alleles in the methylenetetrahydrofolate reductase (MTHFR) C677T gene help in elevating the serum homocysteine level which is an independent predisposing factor for generating CHD. Aims and Objectives: The aim of the present study was to analyze the role of polymorphism of MTHFR C677T gene polymorphisms in CHD patients of Varanasi, Uttar Pradesh, North India. Materials and Methods: The present study included 36 unrelated CHD patients along with their parents. At the same time, 40 healthy control samples were included in the study. MTHFR 677 C>T genotype was identified by polymerase chain reaction followed by restriction digestion restriction fragment length polymorphism mechanism. Results: There was a significant difference observed in MTHFR C677T gene polymorphism between the cases and controls (P<0.001). Among the different etiological factors, increased maternal age, family history, and teratogens are the major ones. Maternal MTHFR C677T genotype and periconceptional folate intake have important ascription toward CHD formation. Conclusion: The results designate that MTHFR C677T polymorphism has a substantial association with the development and progression of CHDs. Folate supplementation might be the probable management strategy for reducing the risk of CHDs as maternal MTHFR C677T polymorphism has an important contribution.