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thalassemia and hemoglobinopathies

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https://www.readbyqxmd.com/read/28276872/a-comprehensive-screening-program-for-%C3%AE-thalassemia-and-other-hemoglobinopathies-in-the-hooghly-district-of-west-bengal-india-dealing-with-21%C3%A2-137-cases
#1
Kallol Kumar Bhattacharyya, Tridip Chatterjee, Ujjalendu Bikash Mondal
We here present a report of population screening programs (January 2012-December 2015) conducted by the Thalassemia Control Unit, Imambara Sadar Hospital, Chinsurah, Hooghly in the Hooghly District of West Bengal, India for prevention of thalassemia. We screened β-thalassemia (β-thal) heterozygotes and homozygotes, and Hb E (HBB: c.79G > A)-β-thal compound heterozygotes. Among 21 137 cases, we found 1968 heterozygotes and 192 homozygotes or compound heterozygotes. Results were evaluated with standard hematological analyses including red cell indices, hemoglobin (Hb) typing and quantification...
March 3, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28270342/cholelithiasis-and-its-complications-in-sickle-cell-disease-in-a-university-hospital
#2
Raquel Alves Martins, Renato Santos Soares, Fernanda Bernadelli De Vito, Valdirene de Fátima Barbosa, Sheila Soares Silva, Helio Moraes-Souza, Paulo Roberto Juliano Martins
INTRODUCTION: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. OBJECTIVE: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. METHODS: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28263715/hemoglobinopathies-thalassemias-why-clinical-biochemists-need-to-know-about-them
#3
Trefor Higgins
No abstract text is available yet for this article.
March 2, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28256747/elbasvir-grazoprevir-for-patients-with-hepatitis-c-virus-infection-and-inherited-blood-disorders-a-phase-iii-study
#4
Christophe Hézode, Massimo Colombo, Marc Bourlière, Ulrich Spengler, Ziv Ben-Ari, Simone I Strasser, William M Lee, Leslie Morgan, Jingjun Qiu, Peggy Hwang, Michael Robertson, Bach-Yen Nguyen, Eliav Barr, Janice Wahl, Barbara Haber, Robert Chase, Rohit Talwani, Vito Di Marco
Direct-acting antiviral agents have not been studied exclusively in patients with inherited blood disorders and hepatitis C virus (HCV) infection. The objective of the randomized, placebo-controlled, phase III C-EDGE IBLD study was to assess the safety and efficacy of elbasvir/grazoprevir (EBR/GZR) in patients with inherited bleeding disorders and HCV infection. One hundred fifty-nine adults with HCV infection and sickle cell anemia, thalassemia, or hemophilia A/B or von Willebrand disease were enrolled at 31 study sites in the United States, Europe, Australia, Canada, Israel, and Thailand...
March 3, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28244614/iron-deficiency-anemia-interfering-the-diagnosis-of-compound-heterozygosity-for-hb-constant-spring-and-hb-paks%C3%A3-the-first-case-report
#5
Thita Chiasakul, Noppacharn Uaprasert
BACKGROUND: Diagnosis of thalassemia or hemoglobinopathy concomitant with iron deficiency anemia (IDA) is challenging. METHOD: We report a case of 43-year-old female whose diagnosis of compound heterozygosity for hemoglobin Constant Spring (HbCS) and Hb Paksé became apparent after the treatment of IDA. RESULTS: Prior to treatment, Hb analysis using isoelectric focusing (IEF) showed HbA 95.6%, HbA2 2.7%, and HbCS 1.7% compatible with heterozygous HbCS...
February 28, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28223188/next-generation-sequencing-unravels-homozygous-mutation-in-glucose-6-phosphate-isomerase-gpic-1040g-a-p-arg347his-causing-hemolysis-in-an-indian-infant
#6
Manu Jamwal, Anu Aggarwal, Anirban Das, Arindam Maitra, Prashant Sharma, Shekhar Krishnan, Neeraj Arora, Deepak Bansal, Reena Das
INTRODUCTION: Inherited anemias diagnostic workup requires a step-wise algorithm. Causal genes implicated in congenital hemolytic anemia are numerous, making a gene-by-gene approach by Sanger sequencing time consuming, expensive and labour intensive. Targeted resequencing can be of great use in explaining these cases. METHODOLOGY: Six months female presented with neonatal jaundice and negative family history. Clinical and laboratory evidences were suggestive of hemolytic anemia...
February 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28125089/next-generation-sequencing-improves-thalassemia-carrier-screening-among-premarital-adults-in-a-high-prevalence-population-the-dai-nationality-china
#7
Jing He, Wenhui Song, Jinlong Yang, Sen Lu, Yuan Yuan, Junfu Guo, Jie Zhang, Kai Ye, Fan Yang, Fangfang Long, Zhiyu Peng, Haijing Yu, Le Cheng, Baosheng Zhu
PURPOSE: Thalassemia is one of the most common monogenic diseases in southwestern China, especially among the Dai ethnic group. Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people. METHODS: Blood samples were obtained from Dai people for premarital screening. Double-blind, parallel hemoglobinopathy screening was conducted using both traditional hematological methods (red cell indexes and hemoglobin electrophoresis, then DNA sequencing) and an NGS approach...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28110577/preconception-carrier-screening-and-prenatal-diagnosis-in-thalassemia-and-hemoglobinopathies-challenges-and-future-perspectives
#8
Joanne Traeger-Synodinos, Cornelis L Harteveld
Hemoglobinopathies constitute the most common severe monogenic disorders worldwide, with an increasing global burden each year. The benefit of applying programmes for preconception carrier screening, with the option of prenatal diagnosis, to minimize the incidence of new cases is recognized in many countries. Areas covered: The challenges associated with identifying carrier couples using hematology-based screening, along with DNA diagnosis and prenatal diagnosis were addressed, based on a literature search and the authors expertise...
March 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28028293/potential-use-of-cord-blood-for-hb-e-hemoglobinopathy-screening-programme-using-capillary-electrophoresis
#9
W A Wan Mohd Saman, R Hassan, S Mohd Yusoff, C A Che Yaakob, N A F Abdullah, S Ghazali, M A R Mohd Radzi, R Bahar
BACKGROUND: Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ β-thalassemia. In Malaysia, the national screening program for thalassemia was implemented for early pregnancy or secondary school girls; however many participants do not turn-up and missed the screening test...
December 2016: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28005669/correlation-of-multimodal-imaging-in-sickle-cell-retinopathy
#10
MULTICENTER STUDY
Khalil Ghasemi Falavarjani, Adrienne W Scott, Kang Wang, Ian C Han, Xuejing Chen, Michael Klufas, Jean-Pierre Hubschman, Steven D Schwartz, Srinivas R Sadda, David Sarraf, Irena Tsui
PURPOSE: To correlate macular findings on spectral domain optical coherence tomography (SDOCT) and optical coherence tomography angiography (OCTA) with quantitative ischemic index calculations on ultra-wide-field fluorescein angiography (UWFFA) in patients with sickle cell retinopathy. METHODS: In this retrospective case series, SDOCT, OCTA, and UWFFA images of patients with sickle cell retinopathy were evaluated. Eyes were staged based on the Goldberg classification of proliferative sickle cell retinopathy...
December 2016: Retina
https://www.readbyqxmd.com/read/27981786/diagnosis-of-common-hemoglobinopathies-among-south-east-asian-population-using-capillary-isoelectric-focusing-system
#11
H Srivorakun, G Fucharoen, K Sanchaisuriya, S Fucharoen
INTRODUCTION: We have evaluated an automated capillary isoelectric focusing (cIEF)-based Hb analyzer in diagnosis of hemoglobinopathies commonly found among South East Asian population. METHODS: Study was performed on a cohort of 665 adult Thai subjects and 13 fetal blood specimens obtained at routine thalassemia diagnostic laboratory. Hb analysis was performed using the cIEF system. Thalassemia genotypes were defined by DNA analysis. RESULTS: The system revealed satisfactorily within-run and between-run precision for quantitation of Hb A2 and Hb E (CV: 0...
February 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27959846/-sickle-cell-syndrome-association-between-hemoglobin-s-and-%C3%AE-thalassemia
#12
Nehuen P Gasparini, Evangelina E Agriello, M J Lorena Zanella, María P Iommi, Juan Maradei, Marisa J Sandoval
Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS) and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome...
2016: Medicina
https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#13
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
February 2017: Annals of Hematology
https://www.readbyqxmd.com/read/27891535/gene-therapy-for-hemoglobin-disorders-a-mini-review
#14
Parul Rai, Punam Malik
Gene therapy by either gene insertion or editing is an exciting curative therapeutic option for monogenic hemoglobin disorders like sickle cell disease and β-thalassemia. The safety and efficacy of gene transfer techniques has markedly improved with the use of lentivirus vectors. The clinical translation of this technology has met with good success, although key limitations include number of engraftable transduced hematopoietic stem cells and adequate transgene expression that results in complete correction of β0 thalassemia major...
2016: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/27883199/hepcidin-detects-iron-deficiency-in-sri-lankan-adolescents-with-a-high-burden-of-hemoglobinopathy-a-diagnostic-test-accuracy-study
#15
Katherine Wray, Angela Allen, Emma Evans, Chris Fisher, Anuja Premawardhena, Lakshman Perera, Rexan Rodrigo, Gayan Goonathilaka, Lebbe Ramees, Craig Webster, Andrew E Armitage, Andrew M Prentice, David J Weatherall, Hal Drakesmith, Sant-Rayn Pasricha
Anemia affects over 800 million women and children globally. Measurement of hepcidin as an index of iron status shows promise, but its diagnostic performance where hemoglobinopathies are prevalent is unclear. We evaluated the performance of hepcidin as a diagnostic test of iron deficiency in adolescents across Sri Lanka. We selected 2273 samples from a nationally representative cross-sectional study of 7526 secondary schoolchildren across Sri Lanka and analyzed associations between hepcidin and participant characteristics, iron indices, inflammatory markers, and hemoglobinopathy states...
February 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/27853395/animal-models-of-%C3%AE-hemoglobinopathies-utility-and-limitations
#16
REVIEW
Bradley McColl, Jim Vadolas
The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia...
2016: Journal of Blood Medicine
https://www.readbyqxmd.com/read/27846660/diabetes-in-patients-with-%C3%A3-thalassemia-or-other-hemoglobinopathies-analysis-from-the-dpv-database
#17
K Warncke, K Konrad, E Kohne, E Hammer, U Ohlenschläger, S Herrlinger, A Jäger, R W Holl
Background: Diabetes mellitus is a common endocrinopathy in patients with thalassemia major, but the occurrence of hemoglobinopathies is rare in Germany and Western Europe. The longitudinal German-Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry allows a comprehensive characterization of this group of patients. Patients/methods: Patients from the DPV-registry aged<30 years with thalassemia major or other hemoglobinopathies were compared to patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) using the statistical software SAS 9...
November 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27828729/cross-sectional-study-for-the-detection-of-mutations-in-the-beta-globin-gene-among-patients-with-hemoglobinopathies-in-the-bengali-population
#18
Amrita Panja, Prosanto Chowdhury, Sharmistha Chakraborty, Tapan Kumar Ghosh, Anupam Basu
AIMS: Thalassemia is a common autosomal recessive blood disorder, which is most prevalent in South East Asian and Mediterranean populations. It is considered as a major health burden in the Indian population. The aims of the present study were to investigate the common, as well as uncommon, mutations responsible for thalassemia in the Bengali population. METHODS: The Bengali state was divided into four sampling zones. Mutation detection was done using Sanger sequencing of the HBB gene...
January 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27804209/national-registry-of-hemoglobinopathies-in-spain-rephem
#19
Elena Cela, José M Bellón, María de la Cruz, Cristina Beléndez, Rubén Berrueco, Anna Ruiz, Izaskun Elorza, Cristina Díaz de Heredia, Aurea Cervera, Griselda Vallés, J Antonio Salinas, M Teresa Coll, Mar Bermúdez, Marta Prudencio, Bienvenida Argilés, Cruz Vecilla
BACKGROUND: Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown. PROCEDURE: This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death...
November 2, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27767389/correlation-of-sin3a-genomic-variants-with-%C3%AE-hemoglobinopathies-disease-severity-and-hydroxyurea-treatment-efficacy
#20
Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
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