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https://www.readbyqxmd.com/read/28930976/detection-of-residual-donor-erythroid-progenitor-cells-after-hematopoietic-stem-cell-transplantation-for-patients-with-hemoglobinopathies
#1
Roman Crazzolara, Gabriele Kropshofer, Michael Steurer, Sieghart Sopper, Wolfgang Schwinger
The presence of incomplete chimerism is noted in a large proportion of patients following bone marrow transplant for thalassemia major or sickle cell disease. This observation has tremendous implications, as subsequent therapeutic immunomodulation strategies can improve clinical outcome. Conventionally, polymerase chain reaction-based analysis of short tandem repeats is used to identify chimerism in donor-derived blood cells. However, this method is restricted to nucleated cells and cannot distinguish between dissociated single-cell lineages...
September 6, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28929515/treatment-of-hepatitis-c-virus-infection-with-direct-acting-antiviral-drugs-is-safe-and-effective-in-patients-with-hemoglobinopathies
#2
Raffaella Origa, Maria Laura Ponti, Aldo Filosa, Alfonso Galeota Lanza, Antonio Piga, Giorgio Maria Saracco, Valeria Pinto, Antonino Picciotto, Paolo Rigano, Salvatore Madonia, Rosamaria Rosso, Domenico D'Ascola, Maria Domenica Cappellini, Roberta D'Ambrosio, Immacolata Tartaglione, Lucia De Franceschi, Barbara Gianesin, Vito Di Marco, Gian Luca Forni
Progression of liver fibrosis in patients with hemoglobinopathies is strongly related to the severity of iron overload and the presence of chronic hepatitis C virus (HCV) infection. Effective iron chelation therapy and HCV infection eradication may prevent liver complications. The European Association for the Study of the Liver guidelines recommend interferon-free regimens for the treatment of HCV infection in patients with hemoglobinopathies. However, data regarding the use of direct-acting antiviral drugs (DAAs) in this patient population are few...
September 20, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28919773/sickle-cell-retinopathy-improving-care-with-a-multidisciplinary-approach
#3
REVIEW
Farid Menaa, Barkat Ali Khan, Bushra Uzair, Abder Menaa
Sickle cell retinopathy (SCR) is the most representative ophthalmologic complication of sickle cell disease (SCD), a hemoglobinopathy affecting both adults and children. SCR presents a wide spectrum of manifestations and may even lead to irreversible vision loss if not properly diagnosed and treated at the earliest. Over the past decade, multidisciplinary research developments have focused upon systemic, genetic, and ocular risk factors of SCR, enabling the clinician to better diagnose and manage these patients...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28916711/comparative-analysis-of-three-dimensional-chromosomal-architecture-identifies-a-novel-fetal-hemoglobin-regulatory-element
#4
Peng Huang, Cheryl A Keller, Belinda Giardine, Jeremy D Grevet, James O J Davies, Jim R Hughes, Ryo Kurita, Yukio Nakamura, Ross C Hardison, Gerd A Blobel
Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and found that, globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detected distinct folding patterns at the developmentally controlled β-globin locus. Specifically, new fetal stage-specific contacts were uncovered between a region separating the fetal (γ) and adult (δ and β) globin genes (encompassing the HBBP1 and BGLT3 noncoding genes) and two distal chromosomal sites (HS5 and 3'HS1) that flank the locus...
September 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28905692/the-emerging-challenge-of-optimal-blood-pressure-management-and-hypertensive-syndromes-in-pregnant-women-with-sickle-cell-disease-a-review
#5
Nabilah F Lari, Michael R DeBaun, Samuel A Oppong
Sickle cell disease (SCD) is the most common hemoglobinopathy, affecting a considerable proportion of black populations of African origin, Middle East and in the Indian sub-continent. Women with SCD are more likely to experience adverse pregnancy and delivery outcomes. Hypertensive diseases in pregnancy such as preeclampsia and eclampsia are more common in women with sickle cell disease. Areas covered: This review examined the influence of hypertension and SCD in pregnancy, and provides the preliminary evidence that the traditional systolic and diastolic blood pressure thresholds for hypertensive disorders such as pre-eclampsia and eclampsia may require reassessment in pregnant women with SCD...
September 14, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28904678/-epidemiological-profile-of-hemoglobinopathies-a-cross-sectional-and-descriptive-index-case-study
#6
Fatima Dahmani, Souad Benkirane, Jaafar Kouzih, Aziz Woumki, Hassan Mamad, Azlarab Masrar
Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently known by health professionals. This lack of knowledge is at the origin of diagnostic errors, delay in their management and therefore high morbidity and mortality rate for these patients. In 2008, the World Health Organization (WHO) has published data on hemoglobinopathies epidemiology: more than 330...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28895851/gene-therapy-approaches-to-hemoglobinopathies
#7
REVIEW
Giuliana Ferrari, Marina Cavazzana, Fulvio Mavilio
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with a lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Preclinical and early clinical studies showed the safety and potential efficacy of this therapeutic approach as well as the hurdles still limiting its general application. In addition, for both beta-thalassemia and sickle cell disease, an altered bone marrow microenvironment reduces the efficiency of stem cell harvesting as well as engraftment...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28895843/historical-perspective-on-the-current-renaissance-for-hematopoietic-stem-cell-gene-therapy
#8
REVIEW
Donald B Kohn
Gene therapy using hematopoietic stem cells (HSC) has developed over the past 3 decades, with progressive improvements in the efficacy and safety. Autologous transplantation of HSC modified with murine gammaretroviral vectors first showed clinical benefits for patients with several primary immune deficiencies, but some of these patients suffered complications from vector-related genotoxicity. Lentiviral vectors have been used recently for gene addition to HSC and have yielded clinical benefits for primary immune deficiencies, metabolic diseases, and hemoglobinopathies, without vector-related complications...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28883202/evaluation-of-an-interactive-visualization-tool-for-the-interpretation-of-pediatric-laboratory-test-results
#9
Johannes Hirschmann, Brita Sedlmayr, Jakob Zierk, Manfred Rauh, Markus Metzler, Hans-Ulrich Prokosch, Dennis Toddenroth
The physiological age-related development of pediatric laboratory results interferes with pathological derangements, which can complicate the interpretation of test results. Recently proposed continuous reference intervals (RIs) promise to be beneficial, although their clinical use may depend on graphical presentations. To estimate the clinical utility of continuous RIs, we developed and evaluated an interactive visualization tool, and examined the differentiation of hemoglobinopathies that is attainable based on the underlying innovative RI model...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28868180/acute-and-chronic-hepatobiliary-manifestations-of-sickle-cell-disease-a-review
#10
REVIEW
Rushikesh Shah, Cesar Taborda, Saurabh Chawla
Sickle cell disease (SCD) is a common hemoglobinopathy which can affect multiple organ systems in the body. Within the digestive tract, the hepatobiliary system is most commonly affected in SCD. The manifestations range from benign hyperbilirubinemia to overt liver failure, with the spectrum of acute clinical presentations often referred to as "sickle cell hepatopathy". This is an umbrella term referring to liver dysfunction and hyperbilirubinemia due to intrahepatic sickling process during SCD crisis leading to ischemia, sequestration and cholestasis...
August 15, 2017: World Journal of Gastrointestinal Pathophysiology
https://www.readbyqxmd.com/read/28865746/rapid-targeted-next-generation-sequencing-platform-for-molecular-screening-and-clinical-genotyping-in-subjects-with-hemoglobinopathies
#11
Xuan Shang, Zhiyu Peng, Yuhua Ye, Asan, Xinhua Zhang, Yan Chen, Baosheng Zhu, Wangwei Cai, Shaoke Chen, Ren Cai, Xiaoling Guo, Chonglin Zhang, Yuqiu Zhou, Shuodan Huang, Yanhui Liu, Biyan Chen, Shanhuo Yan, Yajun Chen, Hongmei Ding, Xiaolin Yin, Liusong Wu, Jing He, Dongai Huang, Sheng He, Tizhen Yan, Xin Fan, Yuehong Zhou, Xiaofeng Wei, Sumin Zhao, Decheng Cai, Fengyu Guo, Qianqian Zhang, Yun Li, Xuelian Zhang, Haorong Lu, Huajie Huang, Junfu Guo, Fei Zhu, Yuan Yuan, Li Zhang, Na Liu, Zhiming Li, Hui Jiang, Qiang Zhang, Yijia Zhang, Wan Khairunnisa Wan Juhari, Sarifah Hanafi, Wanjun Zhou, Fu Xiong, Huanming Yang, Jian Wang, Bin Alwi Zilfalil, Ming Qi, Yaping Yang, Ye Yin, Mao Mao, Xiangmin Xu
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 β-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis...
August 17, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28860306/the-hemoglobinopathies-an-empowering-era-of-human-genetics-in-the-clinic-and-the-laboratory
#12
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
September 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28836463/prevalence-incidence-trend-and-complications-of-thalassemia-in-iraq
#13
Kamal A Kadhim, Kadhim H Baldawi, Faris H Lami
Globally, thalassemia is the most common hereditary hemoglobinopathy, and occurs in 4.4/10,000 live births. In the developing world, the majority of patients die before the age of 20 years. In Iraq, there is little data on the epidemiology and burden of thalassemia. The objectives of this study were to determine the prevalence, incidence, trend, and complications of thalassemia patients in Iraq. All thalassemia patients registered in the accessible 16 (of the 19) thalassemia centers in Iraq until December 31 2015, were included...
August 24, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28818160/determination-of-mean-glycated-haemoglobin-in-healthy-adults-of-a-local-population
#14
Sumbal Nida, Dilshad Ahmed Khan, Aamir Ijaz, Muhammad Qaiser Alam Khan, Hira Aleef, Maria Abbasi
OBJECTIVE: To determine the mean hemoglobin HbA1C levels of disease-free adults in a local population and its optimum cutoff for the diagnosis of diabetes. STUDY DESIGN: Cross-sectional study. PLACE AND DURATION OF STUDY: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, from January to September 2015. METHODOLOGY: Healthy subjects aged 18 years and above of either gender were recruited from local population...
July 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28806883/genome-and-epigenome-editing-to-treat-disorders-of-the-hematopoietic-system
#15
Claudio Mussolino, Jamal Alzubi, Valentina Pennucci, Giandomenico Turchiano, Toni Cathomen
The possibility to edit complex genomes in a targeted fashion has revolutionized basic research as well as biomedical and biotechnological applications in the last five years. The targeted introduction of genetic changes allowed researchers to create smart model systems for basic research, bio-engineers to genetically modify crops and farm animals, and translational scientists to develop novel treatment approaches for inherited and acquired disorders for which curative treatment options are not yet available...
August 15, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28806273/the-changing-landscape-of-gene-editing-in-hematopoietic-stem-cells-a-step-towards-cas9-clinical-translation
#16
Daniel P Dever, Matthew H Porteus
PURPOSE OF REVIEW: Since the discovery two decades ago that programmable endonucleases can be engineered to modify human cells at single nucleotide resolution, the concept of genome editing was born. Now these technologies are being applied to therapeutically relevant cell types, including hematopoietic stem cells (HSC), which possess the power to repopulate an entire blood and immune system. The purpose of this review is to discuss the changing landscape of genome editing in hematopoietic stem cells (GE-HSC) from the discovery stage to the preclinical stage, with the imminent goal of clinical translation for the treatment of serious genetic diseases of the blood and immune system...
August 12, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28777854/-a-novel-double-heterozygote-of-hbb-c-219t-a-220g-t-gene-diagnosis-and-pedigree-analysis
#17
Jiezhong Lv, Zhaofan Luo, Jianpei Fang, Tao Du, Hongman Xue, Yong Liu, Jianping Zhang
OBJECTIVE: To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing. METHODS: EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28766840/high-birth-prevalence-of-sickle-cell-disease-in-northwestern-tanzania
#18
Emmanuela E Ambrose, Julie Makani, Neema Chami, Tulla Masoza, Rogatus Kabyemera, Robert N Peck, Erasmus Kamugisha, Alphaxard Manjurano, Neema Kayange, Luke R Smart
BACKGROUND: Worldwide, hemoglobinopathies affect millions of children. Identification of hemoglobin disorders in most sub-Saharan African countries is delayed until clinical signs of the disease are present. Limited studies have been conducted to understand their prevalence and clinical presentation among newborns in resource-limited settings. METHODOLOGY: This was a prospective cohort study. Newborns (aged 0-7 days) at two hospitals in Northwestern Tanzania were enrolled and followed prospectively for 6 months...
August 2, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28759700/interventions-for-treating-intrahepatic-cholestasis-in-people-with-sickle-cell-disease
#19
REVIEW
Arturo J Martí-Carvajal, Cristina Elena Martí-Amarista
BACKGROUND: Sickle cell disease is the most common hemoglobinopathy occurring worldwide and sickle cell intrahepatic cholestasis is a complication long recognized in this population. Cholestatic liver diseases are characterized by impaired formation or excretion (or both) of bile from the liver. There is a need to assess the clinical benefits and harms of the interventions used to treat intrahepatic cholestasis in people with sickle cell disease. This is an update of a previously published Cochrane Review...
July 31, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28757383/indications-and-outcome-of-splenectomy-in-hematologic-disease
#20
S Bonnet, A Guédon, J-A Ribeil, F Suarez, J Tamburini, S Gaujoux
Splenectomy is part of the therapeutic arsenal for benign or malignant hematological disorders that constitute the main indication for elective splenectomy. With the development of minimally invasive approaches, and in particular, laparoscopy, as well as the advent of monoclonal antibody therapy, the indications and the outcomes of splenectomy for hematologic disease have changed in recent years. Nonetheless, splenectomy has its place in hemoglobinopathies and hemolytic diseases, improves thrombocytopenia in refractory immune thrombocytopenic purpura, can reverse sequelae linked to voluminous splenomegaly secondary to myelofibrosis, or can be used for diagnostic purposes or for splenomegaly in lymphoproliferative syndromes...
July 27, 2017: Journal of Visceral Surgery
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