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(Beta Thalassemia) OR (Thalassemia Major)

Aabha Nagral, Ajay Jhaveri, Smita Sawant, Nirzar Samir Parikh, Nishtha Nagral, Rashid Merchant, Mihir Gandhi
OBJECTIVES: To assess the efficacy and safety of sofosbuvir based generic Direct Acting Antivirals (DAAs) in treatment of Hepatitis C virus (HCV) in adolescents with thalassemia major (TM). METHODS: In this prospective single-arm study, 18 TM adolescents with Chronic Hepatitis C received sofosbuvir based generic DAAs. Patients with genotype 1 and genotype 3 received ledipasvir and daclatasvir respectively. Two cirrhotic patients with genotype 3 also received ribavirin...
August 10, 2018: Indian Journal of Pediatrics
João Arezes, Niall Foy, Kirsty McHugh, Anagha Sawant, Doris Quinkert, Virginie Terraube, Alette Brinth, May Tam, Edward Lavallie, Stephen Taylor, Andrew E Armitage, Sant-Rayn Pasricha, Orla Cunningham, Matthew Lambert, Simon J Draper, Reema Jasuja, Hal Drakesmith
Decreased hepcidin mobilizes iron, which facilitates erythropoiesis, but excess iron is pathogenic in beta-thalassemia. Erythropoietin (EPO) enhances erythroferrone (ERFE) synthesis by erythroblasts, and ERFE suppresses hepatic hepcidin production, through an unknown mechanism. The BMP/SMAD pathway in the liver is critical for control of hepcidin, and we show that EPO suppressed hepcidin and other BMP target genes in vivo in a partially ERFE-dependent manner. Furthermore, recombinant ERFE suppressed the hepatic BMP/SMAD pathway independently of changes in serum and liver iron, and in vitro, ERFE decreased SMAD 1/5/8 phosphorylation and inhibited expression of BMP target genes...
August 10, 2018: Blood
Roya Kahyesh-Esfandiary, Zohreh-Azita Sadigh, Maryam Esghaei, Mohammad-Navid Bastani, Tahereh Donyavi, Alireza Najafi, Atousa Fakhim, Farah Bokharaei-Salim
Beta (β) thalassemia major is a genetic blood disorder with deficiency in the haemoglobin beta chain, requiring blood transfusion therapy. Multiple blood transfusions increase the risk of transmitting blood-borne infections. The aim of this study is to determine the frequency of HCV infection in Iranian individuals with β-thalassemia major. A total of 164 patients with β-thalassemia major were recruited for this study. HCV RNA testing was done on plasma and PBMC from the HCV seropositive samples (with RT-nested PCR method using primers from the 5'-UTR), and all HCV RNA positive samples were genotyped by RFLP assay...
August 9, 2018: Journal of Medical Virology
Bijoy Patra, Mohemmed Ajij, Jagdish Chandra, Nupur Agarwal, Anita Nangia
No abstract text is available yet for this article.
July 28, 2018: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
Mahmoud A Alfaqih, Nabil Bashir, Rami Saadeh, Yousef Khader, Musa Barqawi, Sara Alqudah
OBJECTIVE: Thalassemia intermedia (TI) describes a disease ranging in severity between β thalassemia major (TM) and β thalassemia trait. Osteoporosis is observed in TI and TM. The exact reason of osteoporosis in TI could be hypogonadism and/or an increase in erythropoietin (EPO) levels. The carboxy-terminal collagen cross links (CTX), a marker of bone resorption, and the N-terminal propeptide of type 1 collagen (P1NP), a marker of bone formation are serum markers of osteoporosis. The receptor activator of NF-kappaB ligand (RANKL)/receptor activator of NF-kappaB (RANK)/osteoprotegerin (OPG) axis plays an important role in metabolic bone diseases...
July 31, 2018: BMC Research Notes
Melisha Sirisena, Catherine S Birman, Amy J McKibbin, Katie J O'Brien
Marrow proliferation of the ossicular chain is a rare phenomenon. To date, only two other cases have described this rarity. We report a third paediatric case from Australia. A seven-year-old with thalassemia major demonstrated conductive impairment during surveillance for Deferasirox ototoxicity. Otitis media was assumed, however, CT scan of the petrous temporal bone revealed extramedullary haematopoiesis causing bilateral ossicular expansions and fixed conductive deficit. Reports of hearing loss in the thalassemia population focus on sensorineural impairment from iron chelation therapies...
September 2018: International Journal of Pediatric Otorhinolaryngology
Suprovath Kumar Sarker, Md Tarikul Islam, Golam Sarower Bhuyan, Nusrat Sultana, Mst Noorjahan Begum, Mohammad Al Mahmud-Un-Nabi, Md Abdulla Al Noman Howladar, Tashmim Farhana Dipta, A K M Muraduzzaman, Syeda Kashfi Qadri, Tahmina Shirin, Salma Sadiya, Manzoor Hussain, Waqar Ahmed Khan, Sharif Akhteruzzaman, Syed Saleheen Qadri, Firdausi Qadri, Kaiissar Mannoor
Patients with beta-thalassemia major (BTM) suffer from fatigue, poor physical fitness, muscle weakness, lethargy, and cardiac complications which are related to an energy crisis. Carnitine and acylcarnitine derivatives play important roles in fatty acid oxidation, and deregulation of carnitine and acylcarnitine metabolism may lead to an energy crisis. The present study aimed to investigate carnitine and acylcarnitine metabolites to gain an insight into the pathophysiology of BTM. Dried blood spots of 45 patients with BTM and 96 age-matched healthy controls were analyzed for free carnitine and 24 acylcarnitines by using liquid chromatography-tandem mass spectrometry (LC-MS/MS)...
July 2018: Journal of Advanced Research
Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri
We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples. Antenatal blood samples of 1,115 couples were transferred from the antenatal care clinic. Hemoglobin A2 was quantified, and proportions ≥3.5% were further assessed for beta thalassemia mutation using HRM analysis. Twelve types of beta thalassemia mutations, including hemoglobin E, were identified...
May 14, 2018: Hematology Reports
Stefania Byrou, G Mike Makrigiorgos, Agathoklis Christofides, Ioannis Kallikas, Thessalia Papasavva, Marina Kleanthous
OBJECTIVE: To develop a sensitive, specific, simple, cost-effective and reproducible platform for the non-invasive prenatal detection of paternally inherited alleles for β-thalassaemia. The development of such an assay is of major significance in order to replace currently-applied invasive methods containing inherent fetal loss risks. METHODS: We present a fast Temperature-Gradient Co-amplification at Lower Denaturation Temperature Polymerase Chain Reaction (fast TG COLD PCR) methodology for the detection of the paternally-inherited fetal alleles in maternal plasma...
2018: PloS One
Rekha Bajoria, Elissa Rekhi, Muhsin Almusawy, Ratna Chatterjee
OBJECTIVE: The aim of this study was to evaluate the vitamin D-PTH axis in thalassemia major (TM) in relation to hepatic siderosis liver iron content. DESIGN AND PARTICIPANTS: In this case-controlled observational study, vitamin D-PTH axis was studied in 158 TM and 84 age and ethnicity-matched healthy nonthalassemic controls attending University College Hospital, London. Patients were classified as 25-hydroxy vitamin D (25-OHD) insufficient and sufficient if the value was less than or greater than 50 nmol/L, respectively...
July 23, 2018: Journal of Pediatric Hematology/oncology
Maria Filomena Santarelli, Antonella Meloni, Daniele De Marchi, Laura Pistoia, Antonella Quarta, Anna Spasiano, Luigi Landini, Alessia Pepe, Vincenzo Positano
OBJECTIVES: To propose a method for estimating pancreatic relaxation rate, R2*, from conventional multi-echo MRI, based on the nonlinear fitting of the acquired magnitude signal decay to MR signal models that take into account both the signal oscillations induced by fat and the different R2* values of pancreatic parenchyma and fat. MATERIALS AND METHODS: Single-peak fat (SPF) and multi-peak fat (MPF) models were introduced. Single-R2* and dual-R2* assumptions were considered as well...
July 24, 2018: Magma
Henri J van de Vrugt, Martina C Cornel, Rob M F Wolthuis
CRISPR/Cas gene editing makes it much easier to make targeted changes in the DNA of human cells than other forms of gene therapy. This revolutionary technology offers spectacular opportunities to study gene functions; the clinical consequences of gene variations in patients can be determined much faster. The efficacy and accuracy of CRISPR/Cas is so impressive that a breakthrough to therapeutic applications is approaching fast. CRISPR/Cas is already being used in immunotherapy against cancer, and trials for monogenetic blood disorders, such as beta-thalassemia, have been scheduled...
June 29, 2018: Nederlands Tijdschrift Voor Geneeskunde
Shelvin Kumar Vadi, Sonia Kashyap, Ashwani Sood, Alka Khadwal, Madan Parmar, Ashwin Singh Parihar, Bhagwant Rai Mittal
No abstract text is available yet for this article.
July 23, 2018: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
Zahraa Najah Mahdi, Subh S Al-Mudallal, Bassam M Hameed
OBJECTIVE/BACKGROUND: Certain hemostatic anomalies found in patients with thalassemia suggest the existence of a chronic hypercoagulable state. Several etiologic factors may play a role in the pathogenesis of the hypercoagulable state in those patients. One of these factors is abnormal thalassemic red blood cells (RBCs), which may provide a procoagulant. To substantiate these findings, we measured the ability of RBCs from thalassemia patients to bind annexin V with increased fraction of platelets carrying the activation marker CD62P (P-selectin)...
July 17, 2018: Hematology/oncology and Stem Cell Therapy
Ramsha Mehmood, Uzair Yaqoob, Asma Sarfaraz, Ujala Zubair
Objective: The objective of this to find the prevalence of skeletal and visceral changes in thalassemics and its relationship with variation in blood components. Methodology: This is a cross-sectional study conducted in tertiary care hospital in Karachi among patients diagnosed with thalassemia major who require regular blood transfusions. Result: Among 200 individuals, 95 were females, whereas 105 were males. 96.5% of the study sample showed normocytic normochromic blood picture...
July 2018: International Journal of Health Sciences
C J Qin, L J Liu, Z M Zhang, L Luo, Y R Lai, Q C Li
Objective: To analyze the outcome and the prognostic factors of hepatic veno-occlusive disease (HVOD) after hematopoietic stem cell transplantation (HSCT). Methods: A total of 797 patients receiving HSCT were analyzed retrospectively. The prophylaxis regimen of HVOD in the First Affiliated Hospital of Guangxi Medical University consisted of low molecular weight heparin and lipoprostaglandin E1 (PGE1). Results: Fifty-nine patients (7.4%) developed HVOD at 3-49 days after HSCT (median 12 days). Age younger than 15 years at transplant( HR = 6...
July 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Yuefeng Jiang, Xiaoyun Mao, Yang Zhao, Chuifeng Fan
RATIONALE: Primary intracranial immature teratoma accounts for majority of congenital central nervous system germ-cell tumors, but it is extremely rare in patients older than 15 years. PATIENT CONCERNS: A 27-year-old woman was referred to our hospital for headache, nasal congestion, and decreased olfactory sensation. Imaging showed a mass measuring approximately 5 cm × 4 cm in the right frontal lobe, which also filled the right nasal cavity. Histopathologically, the intracranial tumor tissues were composed of both mature tissues, including glands and squamous epithelial cells and immature neuroectodermal components...
July 2018: Medicine (Baltimore)
Agostino Gaudio, Nancy Morabito, Antonino Catalano, Rosario Rapisarda, Anastasia Xourafa, Antonino Lasco
Due to increasing life expectancy in thalassemia major (TM), osteoporosis is emerging as a significant problem. Its aetiology is multifactorial, culminating in increased bone resorption and remodelling. Hypogonadism and marrow expansion seem to play an important role, but iron overload, deferoxamine toxicity, a defective GH-IGF-1 axis and multiple endocrinopathies may represent additional causes of bone damage. Many of these patients, though under appropriate treatment programs, do not achieve normal peak bone mass...
July 11, 2018: Journal of Clinical Research in Pediatric Endocrinology
Phatchanat Klaihmon, Surapong Lertthammakiat, Usanarat Anurathapan, Samart Pakakasama, Nongnuch Sirachainan, Suradej Hongeng, Kovit Pattanapanyasat
Bone marrow transplantation (BMT) is the only curable option for thalassemia major, β-thalassemia/HbE. However, some patients still have the risk of hypercoagulable complications. We used a whole blood flow cytometric analysis to measure the circulating microparticle (MP) levels, activated platelets, and leukocyte-platelet aggregates in 59 young β-thalassemia/HbE patients compared with 20- and 28-matched healthy and patients receiving regular blood transfusion (RT), respectively. Results from the studies showed that blood samples from BMT group contained a significantly higher numbers of circulating MPs originated from platelets (ann-V+ CD41a+ ), leukocyte (ann-V+ CD45+ ) and endothelial cells (ann-V+ CD146+ ) when compared to samples from healthy subjects and RT patients...
July 4, 2018: Thrombosis Research
Nourdin Saeedi Kia, Khdabaakhsh Karami, Hashem Mohamadian, Amal Saki Malehi
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...
2018: Journal of Education and Health Promotion
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