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thalassemia major

Mohammad Yaser Kiarudi, Kaveh Fadakar, Ebrahim Mousavi
PURPOSE: To describe a case of bilateral choroidal neovascularization in a patient with beta-thalassemia major and an interventional therapeutic attempt. METHOD: Retrospective case report. RESULT: A known case of beta-thalassemia major presented with gradual vision loss. Fundoscopy revealed bilateral macular edema accompanied by intraretinal hemorrhages. Optical coherence tomography and fluorescein angiography were compatible with the diagnosis of choroidal neovascularization...
October 20, 2016: Retinal Cases & Brief Reports
Raffaella Origa, Fabrice Danjou, Valeria Orecchia, Antonietta Zappu, Carlo Dessì, Maria Loreta Foschini, Giovan Battista Leoni, Paolo Moi, Maddalena Morittu, Anna Demurtas, Sandro Loche
No abstract text is available yet for this article.
October 13, 2016: Blood
Suchaya Silvilairat, Pimlak Charoenkwan, Suwit Saekho, Adisak Tantiworawit, Arintaya Phrommintikul, Somdet Srichairatanakool, Nipon Chattipakorn
BACKGROUND: Iron overload cardiomyopathy remains the major cause of death in patients with transfusion-dependent thalassemia. Cardiac T2* magnetic resonance imaging is costly yet effective in detecting cardiac iron accumulation in the heart. Heart rate variability (HRV) has been used to evaluate cardiac autonomic function and is depressed in cases of thalassemia. We evaluated whether HRV could be used as an indicator for early identification of cardiac iron deposition. METHODS: One hundred and one patients with transfusion-dependent thalassemia were enrolled in this study...
2016: PloS One
Monia Ouederni, Monia Ben Khaled, Fethi Mellouli, Elhem Ben Fraj, Nawel Dhouib, Ismehen Ben Yakoub, Selem Abbes, Nejla Mnif, Mohamed Bejaoui
Thalassemia is a common genetic disorder in Tunisia. Early iron concentration assessment is a crucial and challenging issue. Most of annual deaths due to iron overload occurred in underdeveloped regions of the world. Limited access to liver and heart MRI monitoring might partially explain these poor prognostic results. Standard software programs are not available in Tunisia. This study is the first to evaluate iron overload in heart and liver using the MRI T2* with excel spreadsheet for post processing. Association of this MRI tool results to serum ferritin level, and echocardiography was also investigated...
October 12, 2016: Annals of Hematology
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Gerardo Nigro
No abstract text is available yet for this article.
September 28, 2016: International Journal of Cardiology
Nelson C N Chan, Kin-Mang Lau, Kelvin C K Cheng, Natalie P H Chan, Margaret H L Ng
Genetic association studies showed that Hb F is under the influence of major quantitative trait loci (QTL) in β-thalassemia (β-thal) carriers. Single nucleotide polymorphisms (SNPs) at three major QTLs, BCL11A, HBS1L-MYB intergenic region and XmnI-HBG2, were individually validated in univariate models. However, their relative effect sizes on Hb F regulation are unknown. We genotyped 99 Chinese β-thal carriers for the three major QTLs and performed genetic association studies using three different statistical models, including mass univariate analysis, multivariate linear regression and partial least square regression structural equation modeling (PLS-SEM)...
October 5, 2016: Hemoglobin
Amrita Panja, Prosanto Chowdhury, Anupam Basu
We describe a novel C > T substitution at codon 53 of the HBB gene (HBB: c.161C > T). The proband was a transfusion-dependent β-thalassemia major (β-TM) patient. DNA was extracted and subsequently, DNA sequencing was done to detect the mutations on the HBB gene. Capillary zone electrophoresis (CZE) revealed the presence of an unknown peak. She inherited this mutation from her grandmother through her mother. This mutation exists in cis with the common β(0) mutation IVS-I-5 (G > C) (HBB: c...
September 30, 2016: Hemoglobin
Zahra Moudi, Ebrahim Miri-Moghaddam
In the present study, an embedded design was applied in order to conduct a one-year cross-sectional audit of chorionic villus sampling (CVS) and foetal outcomes affected by β-thalassemia major (β-TM) in a prenatal diagnosis (PND) setting. In addition, we explored the decisions regarding pregnancy termination among women whose pregnancy (or child) was affected by β-TM. In the quantitative phase, the available data in the clients' medical records were analysed, while the qualitative phase was performed using a grounded theory method...
September 28, 2016: Journal of Genetic Counseling
Laleh Shariati, Hossein Khanahmad, Mansoor Salehi, Zahra Hejazi, Ilnaz Rahimmaesh, Mohammad Amin Tabatabaiefar, Mohammad Hossein Modarressi
BACKGROUND: β-thalassemia is a major group of human genetic disorders which involves decrease or cease in the normal synthesis of the β-globin chains of hemoglobin. KLF1 is a key regulatory molecule involved in the γ to β-globin gene switching process directly inducing the expression of beta globin gene and indirectly repressing gamma globin. This study was performed to investigate the ability of an engineered CRISPR/Cas9 system to disrupt the KLF1 gene to inhibit the γ to β hemoglobin switching process in K562 cells...
September 26, 2016: Journal of Gene Medicine
Sharifeh Khosravi, Mansour Salehi, Mahboobeh Ramezanzadeh, Hamed Mirzaei, Rasoul Salehi
BACKGROUND AND AIMS: Thalassemia is curable by bone marrow transplantation; however, finding suitable donors with defined HLA combination remains a major challenge. Cord blood stem cells with preselected HLA system through preimplantation genetic diagnosis (PGD) proved very useful for resolving scarce HLA-matched bone marrow donors. METHODS: A thalassemia trait couple with an affected child was included in this study. We used informative STR markers at the HLA and beta globin loci to develop a single cell multiplex fluorescent PCR protocol...
May 2016: Archives of Medical Research
Jean-Benoît Arlet, Flavia Guillem, Mathilde Lamarque, Michael Dussiot, Thiago Maciel, Ivan Moura, Olivier Hermine, Geneviève Courtois
Major advances have been recently made in understanding the molecular determinants of dyserythropoiesis, particularly due to recent works in β-thalassemia. The purpose of this review is devoted to underline the role of some proteins recently evidenced in the field, that may be new alternative therapeutic targets in the near future to alleviate different types of anemia. Areas covered: This review covers the contemporary aspects of some proteins involved in various types of dyserythropoiesis, including the transcriptional factor GATA-1 and its protective chaperone HSP70, but also cytokines of the transforming growth factor beta (TFG-β) family, TGF-β1 and GDF-11, and hormones as erythroferrone...
October 6, 2016: Expert Review of Proteomics
George Petrakos, Panagiotis Andriopoulos, Maria Tsironi
Advances in treatment of thalassemia have led to the aging of thalassemic patients, and consequently concern about successful reproductive outcome is augmented. Although women with thalassemia intermedia only were considered competent of achieving pregnancy, case series reveal the willingness of both thalassemia major and thalassemia intermedia women to have a family. Pregnancy in general is characterized by dynamic multiple-system changes and increased susceptibility to oxidative stress, while homozygous, transfusion-dependent, β-thalassemia patients manifest cardiac, hepatic, endocrine, and metabolic disorders attributable to chronic anoxia and iron overload and thalassemia intermedia, usually nontransfused, is associated with augmented risk of thromboembolic events...
2016: International Journal of Women's Health
Hamid Amoozgar, Samaneh Zeighami, Sezaneh Haghpanah, Mehran Karimi
BACKGROUND: The goal of this study was to compare heart function and arrhythmia in clinically asymptomatic patients with beta thalassemia intermedia and beta thalassemia major. METHOD: In this cross-sectional study, 60 patients with beta thalassemia major and 60 patients with beta thalassemia intermedia who had clinically no symptoms of arrhythmia and clinically normal heart function were evaluated using 24-hour ambulatory electrocardiogram monitoring and echocardiography...
September 20, 2016: Hematology (Amsterdam, Netherlands)
Nirav Pipaliya, Dattatray Solanke, Pathik Parikh, Meghraj Ingle, Ratna Sharma, Sujata Sharma, Prabha Sawant
BACKGROUND & AIMS: We investigated whether tissue elastography (TE) can be used as an alternative to magnetic resonance imaging (MRI) T2* analysis to determine the degree of iron overload in patients with thalassemia major. METHODS: We conducted a prospective study 154 patients (99 male; mean age, 12±3.6 years) with thalassemia major requiring chronic blood transfusion and on iron chelator therapy. The study was performed at a tertiary hospital in India from January 2015 through June 2015...
September 17, 2016: Clinical Gastroenterology and Hepatology
Zari Tahannejad Asad, Majid Ghazanfari, Seyyed Nima Naleini, Azam Sabagh, Wesam Kooti
INTRODUCTION: Regarding the functioning of the endocrine system, and especially in the thyroid of patients with thalassemia, multiple studies in different parts of the world have reported conflicting results. The aim of this study was to assess the levels of thyroid hormones and TSH in beta-thalassemic patients in the city of Ahwaz. METHODS: In this matched case-control study, 105 patients in the case group and 105 subjects as controls were randomly selected from clients referred to the Abuzar hospital in 2015-2016...
July 2016: Electronic Physician
Mehrdad Saravi, Mohsen Vakili Sadeghi, Hassan Mahmoodi Nesheli
Bone marrow transplantation (BMT) in young children improves results in β-thalassemia major. Graft versus host disease (GVHD) is an important complication of peripheral blood stem cell transplantation. GVHD affects heart with a behavior resembling an autoimmune disease, including pericardial effusion. We describe a 22-year-old β-thalassemia major patient who underwent bone marrow transplantation with an HLA-identical sibling donor. The patient didn't have any serious problem until 15 months after transplantation...
September 2016: Archives of Iranian Medicine
Helen Bornaun, Reyhan Dedeoglu, Kazim Oztarhan, Savas Dedeoglu, Erkan Erfidan, Muge Gundogdu, Gonul Aydogan, Dicle Cengiz
BACKGROUND: Myocardial iron overload is the most common cause of mortality in patients with thalassemia major (TM), also known as beta-thalassemia. T2* cardiovascular magnetic resonance imaging (MRI) is the best way of monitoring cardiac iron, and new echocardiographic techniques can be used to assess cardiac function. OBJECTIVES: The aim of this study was to assess the systolic and diastolic right ventricular (RV) function of patients with TM using tissue Doppler imaging (TDI) and to determine whether this echocardiographic technique is an adequate diagnostic tool for the screening and detection of subclinical cardiac dysfunction...
June 2016: Iranian Journal of Pediatrics
Hadeel A-I Abdul-Zahra, Mea'ad K Hassan, Bahaa A A H Ahmed
Few studies have investigated the quality of life of children with thalassemia in the Middle East or Mediterranean region, especially Iraq. Therefore, this study was performed to assess the health-related quality of life (HRQoL) of patients with β-thalassemia major compared with healthy children and adolescents in the same age group and to evaluate the effects of different iron chelators on HRQoL measurements. A case-control study was performed on patients with β-thalassemia major registered at the Center for Hereditary Blood Diseases in Basra from February 2012 through July 2013...
October 2016: Journal of Pediatric Hematology/oncology
Ashish Jain, Ajju Agnihotri, Neelam Marwaha, Ratti Ram Sharma
INTRODUCTION: Red cell allo- and auto-immunization is a well recognized problem in multi-transfused thalassemic patients. We conducted this study on 301 multi-transfused thalassemic patients under the Thalassemia Transfusion Programme of Advanced Pediatric Centre of PGIMER. AIMS AND OBJECTIVES: The study was designed to determine the frequency of alloimmunization and autoimmunization in multi-transfused thalassemic patients and to establish the specificity of alloantibody to red cell antigens, if alloimmunization is detected...
July 2016: Asian Journal of Transfusion Science
Muhammed Emin Ozcan, Bahri Ince, Hasan Huseyin Karadeli, Asuman Gedikbasi, Talip Asil, Meric A Altinoz
OBJECTIVE: To define whether minor adult hemoglobin A2 (HbA2, α2δ2) exerts any protective activity in multiple sclerosis (MS). METHODS: HbA2 levels were measured in 146 MS patients with high performance liquid chromatography and association with MS Severity Scores (MSSS) were determined. HbA2 associations with blood count parameters were also studied using blood counts evaluated on the same day of high performance liquid chromatography sampling. Routine biochemical parameters were also determined to rule out elusively influential factors, such as anemia and thyroid disorders...
2016: Neuropsychiatric Disease and Treatment
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