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thalassemia and hemoglobinopathies

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https://www.readbyqxmd.com/read/28409222/incidental-splenic-nodules-found-on-mr-imaging-done-for-assessment-of-iron-overload-in-children
#1
Rayan A Ahyad, Christopher Z Lam, Omid Shearkhani, Oscar M Navarro
BACKGROUND: MR imaging is used to assess iron overload in patients with hemoglobinopathies and in those who have undergone multiple blood transfusions. Sometimes splenic nodules are found incidentally on these examinations and this may cause diagnostic uncertainty. OBJECTIVE: To determine the prevalence, imaging characteristics and evolution of splenic nodules found on MR imaging for iron overload evaluation. MATERIALS AND METHODS: Retrospective review of all MR imaging examinations performed for iron overload assessment from 2005 to 2015 in a tertiary pediatric hospital...
April 13, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28404539/a-national-registry-of-thalassemia-in-turkey-demographic-and-disease-characteristics-of-patients-achievements-and-challenges-in-prevention
#2
Yeşim Aydınok, Yeşim Oymak, Berna Atabay, Gönül Aydoğan, Akif Yeşilipek, Selma Ünal, Yurdanur Kılınç, Banu Oflaz, Mehmet Akın, Canan Vergin, Melike Sezgin Evim, Ümran Çalışkan, Şule Ünal, Ali Bay, Elif Kazancı, Dilber Talia İleri, Didem Atay, Türkan Patıroğlu, Selda Kahraman, Murat Söker, Mediha Akcan, Aydan Akdeniz, Mustafa Büyükavcı, Güçhan Alanoğlu, Özcan Bör, Nur Soyer, Nihal Özdemir Karadaş, Ezgi Uysalol, Meral Türker, Arzu Akçay, Süheyla Ocak, Adalet Meral Güneş, Hüseyin Tokgöz, Zümrüt Uysal, Naci Tiftik, Zeynep Karakaş
Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey. A total of 2046 patients from 27 Thalassemia Centers were registered in which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). The majority of patients were accumulated into the costal areas of Turkey...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28383138/evaluation-of-four-hemoglobin-separation-analyzers-for-hemoglobinopathy-diagnosis
#3
Simon Degandt, Rémy Coens, Barbara Cauwelier, Helena Devos, Michel Langlois, Jan Emmerechts
BACKGROUND: Four automated hemoglobin separation devices are compared in their ability to detect hemoglobinopathies, both in HbA1c and in hemoglobinopathy mode. METHODS: Quality control material and 58 samples, including one heterozygous α-thalassemia sample, six heterozygote β-thalassemia samples and 32 samples with a known hemoglobin variant, were used to assess imprecision of HbF and HbA2 measurements, correlation with the gold standard and sensitivity for detecting β-thalassemia and Hb variants on D-100 (Bio-Rad Laboratories), HA 8180T (Menarini), HLC-723G8 (Tosoh Bioscience) and Capillarys 2 Flex Piercing (Sebia)...
April 6, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28379995/investigation-of-mutations-in-the-hbb-gene-using-the-1-000-genomes-database
#4
Tânia Carlice-Dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos, Ândrea Ribeiro-Dos-Santos
Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia. Sickle cell anemia is one of the most common monogenic diseases worldwide. Due to its prevalence, diverse strategies have been developed for a better understanding of its molecular mechanisms. In silico analysis has been increasingly used to investigate the genotype-phenotype relationship of many diseases, and the sequences of healthy individuals deposited in the 1,000 Genomes database appear to be an excellent tool for such analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28377044/gene-therapy-for-%C3%AE-hemoglobinopathies
#5
REVIEW
Marina Cavazzana, Chiara Antoniani, Annarita Miccio
β-Thalassemia and sickle cell disease (SCD) are the world's two most widely disseminated hereditary hemoglobinopathies. β-Thalassemia originated in the Mediterranean, Middle Eastern, and Asian regions, and SCD originated in central Africa. However, subsequent population migration means that these two diseases are now global and thus constitute a growing health problem in many countries. Despite remarkable improvements in medical care for patients with β-hemoglobinopathies, there is still only one definitive treatment option: allogeneic hematopoietic stem cell (HSC) transplantation...
April 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28369821/does-the-novel-klf1-gene-mutation-lead-to-a-delay-in-fetal-hemoglobin-switch
#6
Priya Hariharan, Manju Gorivale, Roshan Colah, Kanjaksha Ghosh, Anita Nadkarni
The Kruppel-like factor 1 (KLF1) gene is an essential transcription factor that is required for the proper maturation of the erythroid cells. Recent studies have reported that KLF1 variations are associated with increased fetal hemoglobin (HbF) levels. Here we report a novel KLF1 gene variation codon 211 A→G (c.632 A>G) in a family who was referred for hemoglobinopathy screening. Both parents were classical β-thalassemia trait (mother: HbA2 4.1%, HbF 8.6%; father: HbA2 5.5%, HbF 0.6%) codon 15 G→A heterozygous, and the child was β-thalassemia homozygous...
March 31, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28361595/the-molecular-spectrum-of-%C3%AE-and-%C3%AE-thalassemia-mutations-in-non-endemic-umbria-central-italy
#7
Paolo Gorello, Francesco Arcioni, Antonietta Palmieri, Ylenia Barbanera, Laura Ceccuzzi, Cecilia Adami, Mauro Marchesi, Antonella Angius, Olivia Minelli, Marina Onorato, Antonio Piga, Maurizio Caniglia, Cristina Mecucci, Antonella Roetto
The aim of this study was to describe the mutational spectrum of hemoglobinopathies during the period 1988-2015 in Umbria, Central Italy, which has never been considered endemic for these conditions. Twenty-four different β-globin gene mutations were identified in 188 patients and eight different α-globin gene mutations in 74 patients. Sixty percent β-thalassemia (β-thal), 85.0% sickle cell disease, 44.0% Hb S (HBB: c.20A>T)/β-thal and 85.0% compound heterozygotes for hemoglobin (Hb) variant-carrying patients were diagnosed or molecularly characterized in the last 3 years...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28351935/bidirectional-immune-tolerance-in-non-myeloablative-mhc-mismatched-bmt-for-murine-%C3%AE-thalassemia
#8
Shuyu E, Aman Seth, Peter Vogel, Matt Sommers, Taren Ong, Asha B Pillai
Non-myeloablative conditioning using total lymphoid irradiation (TLI) and rabbit anti-thymocyte serum (ATS) (the murine pre-clinical equivalent of anti-thymocyte globulin/ATG) facilitates immune tolerance after bone marrow transplantation (BMT) across major histocompatibility complex (MHC) disparities and may be a useful strategy for non-malignant disorders. We previously reported that donor effector T cell function and GVHD are regulated via recipient invariant natural killer T cell (iNKT cell) IL-4-driven expansion of donor Foxp3(+) naturally occurring Treg...
March 28, 2017: Blood
https://www.readbyqxmd.com/read/28333416/severe-transplant-associated-thrombotic-microangiopathy-in-patients-with-hemoglobinopathies
#9
Ghada A Abusin, Rolla Abu-Arja, Rajinder P S Bajwa, Edwin M Horwitz, Jeffery J Auletta, Hemalatha G Rangarajan
Incidence and severity of transplant-associated thrombotic microangiopathy (TA-TMA) in patients with hemoglobinopathies receiving hematopoietic cell transplant is unknown. We report the outcomes for two patients with TA-TMA who received eculizumab. A 2.5-year-old male with sickle cell disease developed TA-TMA-associated pericardial tamponade, severe hypertension, and acute kidney injury 2 months after transplant. A 7-year-old female with β-thalassemia major developed TA-TMA-related acute kidney injury, severe hypertension, and seizures at 6 months after transplant...
March 23, 2017: Pediatric Blood & Cancer
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
#10
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...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28270342/cholelithiasis-and-its-complications-in-sickle-cell-disease-in-a-university-hospital
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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