Management Of Beta-thalassemia Research Articles

Analyzing Phytocompounds, Antioxidants, and In-Silico Molecular Docking of Plant-Derived Potential Andrographis Paniculated Inhibitory Action to Managed Beta Thalassemia

It has long been known that medicinal plants are vital to human health and have been used for therapeutic purposes since the beginning of civilization. The goal of this study is to evaluate the scientific data supporting the use of the herbal remedy Andrographis paniculata in the management of beta thalassemia. Phytocompounds, one of the bases of traditional use, were assessed both qualitatively and quantitatively in five different extracts with varying solvent properties (methanol, chloroform, hexane, ethyl acetate, and aqueous), providing the fundamental explanation for the therapeutic relevance of this plant. The presence of flavonoids, phenols, tannins, saponins, and alkaloids in plant extracts was assessed. It was shown that ethanol extract had the highest concentration of phytocompounds among the various extracts, while chloroform extract had the lowest concentration. The plant's antioxidant activity was also assessed, and the results showed that the methanolic extract has potential antioxidant activity, as shown by the DPPH's lowest half-inhibitory concentration (IC50) values. To further evaluate the phytocompounds for their in-silico study, molecular docking techniques were employed. These phytocompounds (DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide) to the fetal haemoglobin target protein PDBID:4MQJ were also found to have interactions with significantly minimum binding energies of -12.52 kcal/mol, -11.22 kcal/mol, and -11.08 kcal/mol, where DL-alphatocopherol was found to have the highest binding affinity (-12.524 kcal/mol) and interaction with the active site HIS97. The SwissADME was used to assess the drug-likeness and ADMET characteristics of phytocompounds derived from Andrographis panicluata. Based on chemical characteristics, drug-likeness score, and ADMET model, the present study selected and screened the phytocompounds DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide, which are expected to have better drug-like features with improved toxicity profiles. Therefore, it makes sense to send the compounds reported in this work to an in vivo analysis of therapeutic applicability due to their significant biological features.

Analyzing Phytocompounds, Antioxidants, and In-Silico Molecular Docking of Plant-Derived Potential Andrographis Paniculated Inhibitory Action to Managed Beta Thalassemia

It has long been known that medicinal plants are vital to human health and have been used for therapeutic purposes since the beginning of civilization. The goal of this study is to evaluate the scientific data supporting the use of the herbal remedy Andrographis paniculata in the management of beta thalassemia. Phytocompounds, one of the bases of traditional use, were assessed both qualitatively and quantitatively in five different extracts with varying solvent properties (methanol, chloroform, hexane, ethyl acetate, and aqueous), providing the fundamental explanation for the therapeutic relevance of this plant. The presence of flavonoids, phenols, tannins, saponins, and alkaloids in plant extracts was assessed. It was shown that ethanol extract had the highest concentration of phytocompounds among the various extracts, while chloroform extract had the lowest concentration. The plant's antioxidant activity was also assessed, and the results showed that the methanolic extract has potential antioxidant activity, as shown by the DPPH's lowest half-inhibitory concentration (IC50) values. To further evaluate the phytocompounds for their in-silico study, molecular docking techniques were employed. These phytocompounds (DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide) to the fetal haemoglobin target protein PDBID:4MQJ were also found to have interactions with significantly minimum binding energies of -12.52 kcal/mol, -11.22 kcal/mol, and -11.08 kcal/mol, where DL-alphatocopherol was found to have the highest binding affinity (-12.524 kcal/mol) and interaction with the active site HIS97. The SwissADME was used to assess the drug-likeness and ADMET characteristics of phytocompounds derived from Andrographis panicluata. Based on chemical characteristics, drug-likeness score, and ADMET model, the present study selected and screened the phytocompounds DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide, which are expected to have better drug-like features with improved toxicity profiles. Therefore, it makes sense to send the compounds reported in this work to an in vivo analysis of therapeutic applicability due to their significant biological features.

Molecular characterization and mutational analysis of beta-globin gene among Kodagu population of Karnataka, India

Introduction and Aim: Beta-thalassemia is a hereditary blood disorder caused by genotypic alterations in the HBB gene. Over 400 mutations have been identified, which are known to be responsible for this disease. In this study, we investigated the mutations for the globin gene prevalent among adult beta-thalassemia trait positive individuals and their distribution within the Kodagu community of Karnataka, India. Materials and Methods: This study included 100 individuals (81 Females and 19 males) in the age group of 18-28 years previously tested as carriers for beta-thalassemia trait. Blood collected from each individual was subjected to genomic DNA extraction and PCR amplification of a 610 bp fragment of the beta-globin gene. The PCR product was purified and sequenced. The gene sequences were subjected to mutation analyses and characterization using bioinformatics tools. Results: The study identified 13 known and 27 novel mutations for this study population. Among the known mutations observed 2 were of type synonymous (HBB:c.9T>C and HBB:c.18T>G), 5 missense (HBB:c.146T>G; HBB:c.149C>T; HBB:c.151A>T; HBB:c.203T>G; HBB:c.269G >A) and 6 intronic (HBB:c.92+2T >G; HBB:c.92+5G>C; HBB:c.315+16G>C; HBB:c.315+74T>G and HBB:c.315+81C>T). HBB:c.-6G>C at the 5'UTR region and IVS-II-16 G>C, an intronic variant, was observed to be the most common mutation showing highest frequency of 82.1%. Several novel mutation types were identified in Exon 2 (3 missense; 2 synonymous), Intron I and Intron II. Conclusion: This study is the first of its kind for the Kodagu population, which identified several previously known and novel mutations in the HBB gene within this population. Since, our study subjects were carriers of very mild or silent beta-thalassemia trait, the mutations observed particularly the novel mutations warrant further investigation for a better understanding and management of beta-thalassemia in this population.

Impact of chelator treatment on post-transfusion hemochromatosis in thalassemic patients under Deferasirox

The management of beta thalassemia may require periodic blood transfusions, iron chelation therapy, and bone marrow or stem cell transplantation. This study is a descriptive retrospective analysis of clinical, biological, and therapeutic parameters to evaluate the impact and effectiveness of chelation therapy in managing post-transfusional hemochromatosis in 26 β-thalassemia patients treated at the Hussein Dey University Hospital Center in Algiers, Algeria. The results of this study show a certain correlation between the doses of iron chelators taken and the improvement in ferritin levels and creatinine clearance, which is indicative of a reduction in renal function impairment. Five profiles were identified based on this relationship. The study also found that all patients had normal kidney function, but there was a tendency towards a decrease in creatinine clearance, necessitating continuous monitoring. It is important to note that even with careful monitoring, complications of thalassemia may occur gradually and at a late onset. This study highlights the need to integrate pharmaceutical practices and introduce the concept of clinical pharmacy to improve adherence to long-term chelation therapy and ultimately enhance survival in children with major thalassemia.

POSC156 Clinical Burden, Treatment Pathway, and Healthcare Resource Utilization of Transfusion-Dependent Beta-Thalassemia Patients in Italy: A Retrospective Analysis

To evaluate demographic and clinical characteristics of transfusion-dependent beta-thalassemia (TDT) patients, the pattern of blood transfusion and iron-chelation therapy (ICT), healthcare-resource consumptions and healthcare direct costs in TDT patients. A retrospective study was carried out by integrating administrative databases of a pool of Italian Healthcare-Entities, with data reproportioned to the Italian population. Patients with ≥6 episodes of blood transfusion over a 12-month period together with ≥1 ICT prescription between 01/01/2010-31/12/2016, were included. Index-date was that of first blood transfusion within the inclusion period. Patients were characterized 12-month before index-date and followed-up from index-date to death or study-ending. Annual healthcare-resources/patient and direct healthcare-cost/patient [covered by NHS, for drugs, outpatients specialistic services (OSS), and hospitalizations] were evaluated during the follow-up. Overall, 2,137 TDT patients were estimated, with a mean age of 41.3 and 45% male. Previous hospitalizations were observed in 34% of patients. Anti-infectives drugs were the most prescribed (74%). During follow-up, hepatic diseases represented a complication in 38% of patients. Mean number of blood transfusions administrated over 12-month period was 11.9. Median time from first transfusion to first ICT prescription was 216 days. Concerning ICT treatments, 69% of patients were with the same ICT, while 26% and 5% presented 2-3 different types of ICT prescriptions, respectively. Mean annual number/patient of drug prescriptions was 23.4, of hospitalizations was 2.2 (median length of stay 82 days), and of OSS was 103.7. The overall annual direct healthcare-cost/patient averaged 20,343€ (9,832€ for drugs, 9,449€ for hospitalizations, and 1,062€ for OSS). This real-world study provided an in-depth characterization of the clinical features, pharmaco-utilization and economic burden of TDT patients, showing the high resource consumption and direct health-care costs for these patients. The mean age observed reflected the life-expectancy increment of TDT population reported in literature, suggesting that aging should be considered in the management of beta-thalassemia.

Green‐top Guideline No. 66: Management of Beta Thalassaemia in Pregnancy

Green‐top Guideline No. 66: Management of Beta Thalassaemia in Pregnancy

A case of beta-thalassaemia major resistant to standard treatment

We report the case of a 22-year-old woman from Albania, with thalassaemia major, in severe clinical condition who could no longer be transfused due to the occurrence of severe, acute, post-transfusional reactions. After 10 years of treatment, she failed to respond to hydroxyurea. When she received thalidomide, haemoglobin levels increased from 3.7 g/dl to 9 g/dl. Since then, at 22 months of follow-up, the therapy is still effective and well tolerated. The case gives the opportunity to describe the clinical use of thalidomide, and its potential in the management of beta-thalassaemia.

Current Trends in the Management of Beta Thalassemia

The management of Beta Thalassemia, the commonest form of hemolytic anemia in children, has changed significantly in the last few years. With the availability of better transfusion regimen, iron chelation therapy, proper management of complications and good supportive care, it is now possible for a thalassemic child to have a near normal life span with a good quality of life.

Geneticization: the Cyprus paradigm.

Geneticization is a broad term referring to several related processes such as a spreading tendency to use a genetic model of disease explanation, a growing influence of genetics in medical practice, and the slow changing of individual and societal attitudes towards reproduction, prevention and control of disease. These processes can be demonstrated in medical literature on preventive genetic screening and counselling programs for beta-thalassaemia in Cyprus, the United Kingdom and Canada. The preventive possibilities of the new genetic and diagnostic technologies have been quickly understood and advocated by health professionals, and their educational strategies have created a web of social control, in marked contrast to the alleged voluntary decision-making process and free choice. Genetic diagnostic technologies have led to considerable changes in control and management of beta-thalassaemia, and have generated a number of unresolved incongruities.