Review
Medicine, General & Internal
Antonis Kattamis, Janet L. Kwiatkowski, Yesim Aydinok
Summary: Thalassaemia is a genetic disorder that affects globin chain synthesis and has a worldwide distribution. The unbalanced production of globin chains leads to ineffective erythropoiesis, increased haemolysis, and disrupted iron homeostasis. The clinical phenotype varies from mild to severe, with treatment options including transfusion, iron chelation, allogeneic haematopoietic stem cell transplantation, and gene therapy.
Review
Hematology
Wei-da Wang, Fang Hu, Dun-hua Zhou, Robert Peter Gale, Yong-rong Lai, Hong-xia Yao, Chunfu Li, Bing-yi Wu, Zhu Chen, Jian-pei Fang, Sai-juan Chen, Yang Liang
Summary: Due to China's economic growth and advancements in medical technology over the past 20 years, there are various methods available for noninvasive prenatal testing and treatment of thalassemia major. However, regional disparities in economic development and access to medical resources require further innovations to alleviate the medical, financial, and psychological burdens of thalassemia patients and their families.
Article
Pathology
Bei Li, Xiao Han, Jian Ma, Dan Yang
Summary: The study aimed to investigate the mutation spectrum of thalassaemia and characterize the erythrocyte indices of thalassaemia in Sichuan. It found that a high prevalence of thalassaemia carriers in the region, with 69.7% having alpha-thalassaemia and 28.6% having beta-thalassaemia. Different genetic defects showed varying effects on erythrocyte indices, with specific cut-offs recommended for detection.
JOURNAL OF CLINICAL PATHOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Dhiraj Agarwal, Rutuja Patil, Sudipto Roy, Harshpreet Kaur, Sanjay Mehandale, Ashish Bavdekar, Harish Nair, Sanjay Juvekar, Girish Dayma
Summary: Between January and June 2021, a community-based surveillance study was conducted in rural areas of Pune district, Maharashtra, India to assess the seroprevalence of SARS-CoV-2 in different age groups. The overall seroprevalence was found to be 45%, with a significant increase in seropositivity in the fourth and fifth rounds, mostly among adults. Factors strongly associated with seropositivity included contact with suspected or confirmed cases of COVID-19, COVID-19 vaccination, age 50 years or older, and occupation in a high-risk category.
JOURNAL OF GLOBAL HEALTH
(2023)
Review
Pharmacology & Pharmacy
Laura Grech, Karen Borg, Joseph Borg
Summary: Beta-thalassaemia, a significant haemoglobinopathy, is currently managed with treatments such as repeated transfusions and iron-chelating therapy, while novel approaches like gene therapy and gene editing are being developed to address the underlying causes of the disease. These new therapies aim to correct the imbalance of globin chains, treat ineffective erythropoiesis, and improve iron overload associated with beta-thalassaemia.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2022)
Review
Medicine, General & Internal
Akshay Sharma, Vanitha A. Jagannath, Latika Puri
Summary: Thalassaemia is an autosomal recessive blood disorder caused by mutations in globin genes, leading to reduced synthesis of certain globin chains. Current treatment involves regular transfusions and iron chelation therapy, with allogeneic hematopoietic stem cell transplantation being the only potentially curative option. Gene therapy for thalassaemia is also emerging as a promising alternative with curative potential.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Review
Medicine, General & Internal
Norita Hussein, Lidewij Henneman, Joe Kai, Nadeem Qureshi
Summary: Preconception genetic risk assessment is important in identifying couples at risk of genetic diseases and helping them make informed reproductive decisions before pregnancy. However, there is currently a lack of randomized controlled trials on preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, and Tay-Sachs disease.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Article
Multidisciplinary Sciences
Petros Roussos, Anastasia Mitsea, Demetrios Halazonetis, Iosif Sifakakis
Summary: The study using geometric morphometrics found significant differences in the craniofacial complex of beta thalassemia patients compared to controls, mainly characterized by smaller mandibular body, midface protrusion, and decrease in posterior face height.
SCIENTIFIC REPORTS
(2021)
Article
Public, Environmental & Occupational Health
Rajendra Kumar Baharia, Chander Prakash Yadav, Amit Sharma
Summary: The study analyzed 33 years of malaria data in the Kheda district of Gujarat, India, showing a declining trend in malaria cases with some peak years. Various interventions such as revised drug policy, improved surveillance techniques, and indoor residual insecticide spray have played significant roles in controlling malaria. However, new tools will be needed to further reduce cases, especially of Plasmodium vivax.
Article
Medicine, General & Internal
Hanan Kamel M. Saad, Wan Rohani Wan Taib, Azly Sumanty Ab Ghani, Imilia Ismail, Futoon Abedrabbu Al-Rawashde, Belal Almajali, Maysa Alhawamdeh, Alawiyah Awang Abd Rahman, Abdullah Saleh Al-wajeeh, Hamid Ali Nagi Al-Jamal
Summary: This study investigated the spectrum of β-thalassaemia gene mutations and their correlation with iron overload in HbE/β-thalassaemia patients, β-thalassaemia carriers, and HbE carriers. It was found that some mutations were associated with severe anaemia in patients, and the detection of mutations can serve as a prognostic marker to improve the management protocols and haematological and biochemical statuses of β-thalassaemia patients.
Review
Hematology
Sujit Sheth, Ali T. Taher, Thomas D. Coates, Antonis Kattamis, Maria Domenica Cappellini
Summary: Patients with transfusion-dependent beta-thalassaemia rely on lifelong, regular red blood cell transfusions for survival. However, frequent blood transfusions come with risks such as iron overload, transfusion-transmitted disease, and reduced quality of life. Luspatercept has shown efficacy in reducing the need for transfusions in these patients by promoting erythroid maturation independently of erythropoietin. This review discusses treatment initiation, ongoing evaluation, dose adjustment, adverse event management, and guidance on determining clinical benefit in transfusion-dependent beta-thalassaemia patients receiving luspatercept.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Virology
Hirawati Deval, Sthita P. Behera, Awdhesh Agrawal, Rajeev Singh, Brijranjan Misra, Vanka Janardhan, Gajanan Patil, Kamlesh Sah, Niraj Kumar, Ravishankar Singh, Vijay P. Bondre
Summary: During the dengue outbreaks in 2015 to 2016 in Uttar Pradesh and Bihar, only DEN-2 serotype was prevalent, with DV-2 being the main circulating serotype. Genetic analysis revealed the presence of lineages I and III of DV-2 cosmopolitan genotype in 2015, and lineage II in 2016, based on full-length envelope (E) protein sequence derived from patient's sera and DV isolates. The phylogenetic analysis showed a genetic relationship between these DV-2 strains and recent DV-2 genotypes reported in DEN outbreaks in north India, indicating the circulation of cosmopolitan genotype of DV-2 in eastern Uttar Pradesh and western Bihar.
JOURNAL OF MEDICAL VIROLOGY
(2021)
Review
Cardiac & Cardiovascular Systems
Maria Vlachou, Vasileios Kamperidis, George Giannakoulas, Theodoros Karamitsos, Efthymia Vlachaki, Haralambos Karvounis
Summary: The review highlights the clinical value of cardiac biomarkers in patients with beta-thalassaemia, indicating their importance in diagnosis, staging, and prognosis of heart disease, with ongoing research for potential expanded future use.
HELLENIC JOURNAL OF CARDIOLOGY
(2021)
Article
Immunology
Silvia Argimon, Geetha Nagaraj, Varun Shamanna, Sravani Darmavaram, Ashwini Kodlipet Vasanth, Akshatha Prasanna, Aruna Poojary, Anurag Kumar Bari, Anthony Underwood, Mihir Kekre, Stephen Baker, David M. Aanensen, Ravikumar Kadahalli Lingegowda
Summary: The study reports the persistent circulation of third-generation cephalosporin-resistant Salmonella Typhi in Mumbai, which is linked to the acquisition and maintenance of an IncX3 plasmid carrying the ESBL gene bla(SHV-12) and the fluoroquinolone resistance gene qnrB7, in the genetic context of a triple mutant associated with fluoroquinolone resistance.
CLINICAL INFECTIOUS DISEASES
(2022)
Article
Plant Sciences
B. Divya, B. R. Ramesh, K. Praveen Karanth
Summary: This study investigates the biogeographic history of the Western Ghats forests by examining the decoupling between phylogenetic and taxonomic diversity. The research found that evergreen forests in the area display higher phylogenetic diversity compared to expectation, while deciduous forests exhibit the opposite pattern. The study supports the southern refuge hypothesis and provides the first phylogenetic evidence for the antiquity of evergreen forests in the Western Ghats.
JOURNAL OF SYSTEMATICS AND EVOLUTION
(2021)
Article
Hematology
Avani Shah, Parizad Patel, Keyur Patel, Binal Patel, Keyuri Jariwala, Preeti Sharma, Kanchan Mishra, Kanjaksha Ghosh
TRANSFUSION AND APHERESIS SCIENCE
(2020)
Article
Hematology
Kanjaksha Ghosh, Kinjalka Ghosh, Reepa Agarwal, Kiron Shah, Kanchan Mishra
TRANSFUSION AND APHERESIS SCIENCE
(2019)
Letter
Rheumatology
Kanjaksha Ghosh
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Medicine, Research & Experimental
Salam Alkindi, Said S. Almufargi, Anil Pathare
EXPERIMENTAL BIOLOGY AND MEDICINE
(2020)
Article
Multidisciplinary Sciences
Salam Alkindi, Ikhlas Al-Busaidi, Bushra Al-Salami, Samir Raniga, Anil Pathare, Samir K. Ballas
SCIENTIFIC REPORTS
(2020)
Article
Hematology
Avani Shah, Parizad Patel, Keyuri Jariwala, Farzin Qureshi, Kanchan Mishra, Sumit Bharadva, Kanjaksha Ghosh
Summary: There is a lack of data on the prevalence of rare blood group antigens among the blood donor population in South Gujarat due to the unavailability and high cost of antisera. This study used a PCR-based method to detect the presence of In-a and In-b antigens in regular voluntary blood donors. The frequency of In a antigen was found to be higher than Caucasians, lower than Iranians and Arabs, and comparable to Indians in Mumbai. This PCR-based method could be extremely helpful in creating a rare donor registry and screening blood donors on a large scale in the absence of antisera, particularly for low-frequency alleles like In-a.
TRANSFUSION AND APHERESIS SCIENCE
(2022)
Article
Medicine, General & Internal
Naglaa Fawaz, Ismail Beshlawi, Alauldeen Alqasim, Mathew Zachariah, Roberta Russo, Immacolata Andolfo, Antonella Gambale, Anil Pathare, Achille Iolascon
Summary: We report a case of transfusion-dependent chronic anemia in a child, with clinical and laboratory features suggestive of a chronic nonspherocytic hemolytic anemia and bone marrow features suggestive of congenital dyserythropoietic anemia. However, DNA studies revealed a novel mutation in the PKLR gene responsible for pyruvate kinase deficiency as the underlying condition. Molecular investigations using targeted next-generation sequencing identified the patient as homozygous for a novel missense mutation, while both parents were heterozygous for the same mutation.
CLINICAL CASE REPORTS
(2022)
Review
Hematology
Kanjaksha Ghosh, Kinjalka Ghosh
Summary: Monoclonal antibodies are increasingly used in hematology practice, either alone or in combination with other therapies, to improve outcomes in various hematological conditions. These antibodies have a wide range of applications in malignant and benign hematological diseases, as well as in different phases of stem cell transplantation. Advancements in protein engineering are rapidly improving the function of antibodies.
EXPERT REVIEW OF HEMATOLOGY
(2022)
Review
Medicine, Research & Experimental
Kanjaksha Ghosh, Durjoy K. Shome, Bipin Kulkarni, Malay K. Ghosh, Kinjalka Ghosh
Summary: Bone marrow fibrosis is a significant structural change in the marrow that is not well understood in terms of its causes. This review consolidates the current understanding of marrow fibrosis, highlighting the complex interactions between growth factors, cytokines, chemokines, and hormones. The involvement of various cells, molecules, and genetic/epigenetic changes in the fibrosis process is also discussed.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Biotechnology & Applied Microbiology
Suryyani Deb, Mohammad Azharuddin, Sofia Ramstrom, Kanjaksha Ghosh, Santiswarup Singha, Thobias Romu, Hirak Kumar Patra
Summary: Arterial thrombosis is caused by platelet-mediated thrombus formation in blood vessels, leading to severe cardiovascular diseases. To better predict and treat arterial thrombosis, we have developed a nanoparticle platform that can simultaneously monitor and restrict thrombus growth. The platform works by inhibiting receptors on platelets and visualizing the thrombus status through magnetic resonance imaging.
BIOENGINEERING-BASEL
(2023)
Article
Biochemistry & Molecular Biology
Prashant P. Warang, Nikhil S. Shinde, Vinod D. Umare, Prajyot Deshmukh, Kanjaksha Ghosh, Manisha R. Madkaikar, Roshan B. Colah, Malay B. Mukherjee
Summary: This study evaluated the effects of fermented papaya preparation (FPP) on sickle cell patients, finding that it has the potential to reduce oxidative stress and protect red blood cell morphology. The analysis also revealed the presence of essential amino acids and vitamin D3 and derivatives in FPP.
Article
Biochemistry & Molecular Biology
Vinod Umare, Vandana Pradhan, Sneha Dadheech, Anjali Rajadhyaksha, Kanjaksha Ghosh, Anita Nadkarni
Article
Pathology
Sandhya Tamgadge, Treville Pereira, Sandeep Kale, Subraj Shetty, Avinash Tamgadge
INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY
(2020)
Article
Dermatology
Treville Pereira, J. Aswathy, Subraj Shetty, Avinash Tamgadge, Sandhya Tamgadge, Swati Gotmare
INDIAN DERMATOLOGY ONLINE JOURNAL
(2019)
Review
Oncology
Subraj J. Shetty, Treville Pereira, Rajiv S. Desai
JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
(2019)