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Hemoglobinopathies

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https://www.readbyqxmd.com/read/28981928/-molecular-epidemiological-survey-of-hemoglobinopathies-in-yongzhou-area-of-hunan-province
#1
Jie Tian, Deguo Tang, Shaohui Yang, Ju Wang, Yanmin Ai, Miao Zhang
OBJECTIVE: To summarize the molecular epidemiology of hemoglobinopathies in Yongzhou area of Hunan province in order to provide a basis for making the guidelines of local thalassemia prevention program. METHODS: Two thousand and two samples (1001 couples) were randomly recruited based on demographic data and distribution of ethnic groups. All samples were subjected to full blood count and analysis of hemoglobin and 6 common alpha-thalassemia mutations. Known beta-thalassemia mutations were screened in samples with beta-thalassemia trait...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28980104/experiences-of-a-high-risk-population-with-prenatal-hemoglobinopathy-carrier-screening-in-a-primary-care-setting-a-qualitative-study
#2
Kim C A Holtkamp, Phillis Lakeman, Hind Hader, Suze M J P Jans, Maria Hoenderdos, Henna A M Playfair, Martina C Cornel, Marjolein Peters, Lidewij Henneman
Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screening on an ad hoc basis. This qualitative descriptive study explores how pregnant women perceive an offer of HbP carrier screening by their midwife. Semi-structured interviews (n = 26) were conducted with pregnant women at risk of being a HbP carrier, and whom were offered screening at their booking appointment in one of two midwifery practices in Amsterdam...
October 5, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28958966/diagnostic-difficulty-of-beta-thalassemia-syndrome-in-a-multi-transfused-patient-contribution-of-myelogram-and-studying-parents
#3
Élisabeth Trawinski, Odile Fenneteau, Lou Le Mouel, Ghislaine Ithier, Nathalie Couque
We report the case of a 5 year old, initially followed for congenital sideroblastic anemia, whose explorations reveal a complex family hemoglobinopathy. Myelogram performed in children, reveals dystrophic mature erythroblasts with hemoglobinization defect and basophil punctuations. These abnormalities point towards an abnormal synthesis of heme or globin chains. Iterative transfusions in child do not allow interpreting a search for abnormal hemoglobin. However, the analysis carried out in his parents, with increased HBA2 rate and microcytosis concluded in beta-thalassemia trait for father and mother...
October 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28953196/transcranial-doppler-screening-in-50-patients-with-sickle-cell-hemoglobinopathies-in-iran
#4
Susan Zamani, Afshin Borhan Haghighi, Sezaneh Haghpanah, Mehran Karimi, Mohammad R Bordbar
BACKGROUND: As previous studies had discordant results with regard to the correlation of transcranial Doppler (TCD) screening and brain MRI, the aim of this study was to find the correlation between TCD values and silent ischemia in sickle cell disease (SCD) patients. METHOD AND MATERIALS: In this cross-sectional study, 50 patients with proven diagnosis of sickle cell hemoglobinopathies based on their hemoglobin electrophoresis were included. Demographic data, their physical exam, information with regard to crises history, and their laboratory data were recorded...
August 4, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28950780/rivaroxaban-use-in-patients-with-hemoglobinopathies
#5
Chrysoula Apostolou, Philippos Klonizakis, Maria Mainou, Eleni Kapsali, Katerina Kafantari, Aggeliki Kotsiafti, Evaggelia Vetsiou, Sofia Vakalopoulou, Efthymia Vlachaki
The use of rivaroxaban in patients with hemoglobinopathies and thrombotic events has not been studied extensively. Here we present eight cases of such patients, five receiving rivaroxaban for stroke and systemic embolism prevention due to non-valvular atrial fibrillation and three for deep vein thrombosis treatment. The follow-up period ranged from 6 to 34 months. During this period none of the patients experienced any thrombotic or bleeding event.There were no other adverse events reported. Further studies with larger numbers of patients with hemoglobinopathies are needed to determine the use of rivaroxaban and ensure its safety in this patient setting...
May 2017: Hemoglobin
https://www.readbyqxmd.com/read/28945175/novel-interactions-of-two-%C3%AE-hb-variants-with-sea-deletion-%C3%AE-0-thalassemia-hematological-and-molecular-analyses
#6
Hataichanok Srivorakun, Kritsada Singha, Goonnapa Fucharoen, Supan Fucharoen
OBJECTIVES: To report the hematological and molecular features as well as diagnostic aspects of the hitherto un-described interactions of two rare α-globin chain variants with α(0)-thalassemia commonly found among Southeast Asian populations. METHODS: The study was done on two adult Thai patients (P1 and P2) who had hypochromic microcytic anemia. Hb analysis was carried out using high performance liquid chromatography (HPLC) and capillary electrophoresis (CE)...
September 25, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28943232/daily-opioid-use-fluctuates-as-a-function-of-pain-catastrophizing-and-affect-in-patients-with-sickle-cell-disease-an-electronic-daily-diary-analysis
#7
Patrick H Finan, C Patrick Carroll, Gyasi Moscou-Jackson, Marc O Martel, Claudia M Campbell, Alex Pressman, Joshua M Smyth, Jean-Michel Tremblay, Sophie M Lanzkron, Jennifer A Haythornthwaite
Chronic opioid therapy is a common treatment regimen for patients with sickle cell disease (SCD), a chronically painful recessive hemoglobinopathy. The collective risk profile of chronic opioid therapy necessitates an understanding of which pain-related factors, such as affect and pain catastrophizing, are associated with the ebbs and flows of opioid use in daily life, a topic that has received very little attention among patients with any type of chronically painful condition, including SCD. We therefore investigated the variability of day-to-day patterns of short and long-acting opioid use and their associations with pain and pain-related cognitive and affective processes in daily life among patients with SCD using a nightly electronic diary (N = 45)...
September 21, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28940159/zinc-status-in-beta-thalassemia-major-patients
#8
Attanayaka Mudiyanselage Dilhara Sewwandi Karunaratna, Jamburagoda Gamage Shirani Ranasingha, Rasnayaka Mudiyanselage Mudiyanse
Beta thalassemia is a common monogenic hereditary hemoglobinopathy which is associated with compound complications. Zinc deficiency, which is commonly observed in thalassemia patients, is also associated with multiple health complications. The objective of this study was to determine the zinc status and its effect on the growth and immune functions of young beta thalassemia major patients. The study included 40 patients in comparison with age- and sex-matched 30 healthy individuals as controls. The patients were interviewed for socio-demographic variables, and their medical histories were obtained from the hospital files...
September 23, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28930976/detection-of-residual-donor-erythroid-progenitor-cells-after-hematopoietic-stem-cell-transplantation-for-patients-with-hemoglobinopathies
#9
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
#10
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
#11
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
#12
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...
August 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
#13
Nabilah F Lari, Michael R DeBaun, Samuel A Oppong
Sickle cell disease (SCD) is one of 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 23, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28904678/-epidemiological-profile-of-hemoglobinopathies-a-cross-sectional-and-descriptive-index-case-study
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
September 2017: EBioMedicine
https://www.readbyqxmd.com/read/28860306/the-hemoglobinopathies-an-empowering-era-of-human-genetics-in-the-clinic-and-the-laboratory
#20
EDITORIAL
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September 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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