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Hemoglobinopathies

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https://www.readbyqxmd.com/read/29443807/multimodal-imaging-of-angioid-streaks-associated-with-turner-syndrome
#1
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29440190/a-model-linking-sickle-cell-hemoglobinopathies-and-smarcb1-loss-in-renal-medullary-carcinoma
#2
Pavlos Msaouel, Nizar M Tannir, Cheryl Lyn Walker
Renal medullary carcinoma (RMC) is a highly aggressive malignancy that predominantly afflicts young adults and adolescents with sickle hemoglobinopathies. It is characterized by complete loss of expression of the chromatin remodeler and tumor suppressor SMARCB1. Despite therapy, the outcomes of patients with RMC remain very poor, highlighting the need to understand the etiology of this cancer, and develop new diagnostic, preventive, and therapeutic strategies. A key knowledge gap in RMC biology is why sickle hemoglobinopathies predispose to the development of this cancer...
February 12, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29438816/the-effect-of-tranexamic-acid-in-unilateral-and-bilateral-total-knee-arthroplasty-in-the-south-asian-population-a-retrospective-cohort-study
#3
Syed Hamza Mufarrih, Azeem Tariq Malik, Nada Qaisar Qureshi, Riaz Hussain Lakdawala, Umar Rabbani, Arif Ali, Shahryar Noordin
INTRODUCTION: Together with evidence of higher bleeding tendencies, the vulnerability of the South Asian population to anemia secondary to a higher prevalence of hemoglobinopathies and micronutrient deficiencies merits further exploration of the effects of tranexamic acid on this population. Additionally, limited access to self-care facilities and certain sociocultural beliefs and practices may not be conducive to a speedy recovery from surgical complications. The aim of this study is to investigate the effects of intraoperative administration of tranexamic acid during total knee arthroplasty when considering the South Asian population...
February 10, 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29431621/haploidentical-hsct-for-hemoglobinopathies-improved-outcomes-with-tcr%C3%AE-%C3%AE-cd19-depleted-grafts
#4
Javid Gaziev, Antonella Isgrò, Pietro Sodani, Katia Paciaroni, Gioia De Angelis, Marco Marziali, Michela Ribersani, Cecilia Alfieri, Alessandro Lanti, Tiziana Galluccio, Gaspare Adorno, Marco Andreani
We examined outcomes of haploidentical hematopoietic cell transplantation (haplo-HCT) using T-cell receptor αβ + (TCRαβ + )/CD19 + -depleted grafts (TCR group, 14 patients) in children with hemoglobinopathies. Patients received a preparative regimen consisting of busulfan, thiotepa, cyclophosphamide, and antithymocyte globulin preceded by fludarabine, hydroxyurea, and azathioprine. The median follow-up among surviving patients was 3.9 years. The 5-year probabilities of overall survival (OS) and disease-free survival (DFS) were 84% and 69%, respectively...
February 13, 2018: Blood Advances
https://www.readbyqxmd.com/read/29428902/recent-advance-on-genome-editing-for-therapy-of-%C3%AE-hemoglobinopathies
#5
Jia-Wei Liu, Tao Hong, Xin Qin, Ying-Min Liang, Ping Zhang
β-hemoglobinopathies are one of six groups of common illnesses affecting human health. Although the genetic mechanisms have been elucidated for several decades, curable treatment options, other than allogeneic bone marrow transplantation, are still lacking. In recent years, rapid development in genome editing technologies and their clinical applications have opened up new directions for treatment of β-hemoglobinopathies. Genome editing technologies, as applied in autologous CD34 + hematopoietic stem and progenitor cells, represents a promising remedial means for the β-globin disorders...
February 20, 2018: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29420372/mutation-screening-of-the-kr%C3%A3-ppel-like-factor-1-gene-in-individuals-with-increased-fetal-hemoglobin-referred-for-hemoglobinopathy-investigation-in-south-of-iran
#6
Mohammad Hamid, Sanaz Ershadi Oskouei, Gholamreza Shariati, Esmaeil Babaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat
BACKGROUND: Any mutation in the Krüppel-like factor 1 (KLF1) gene may interfere with its proper related function in the erythropoiesis process and lead to alterations in proper activation of its downstream protein through globin switching, which results in an increase in fetal hemoglobin (HbF). This study aimed to investigate whether KLF1 mutation can associate with high level of HbF in individuals with increased fetal hemoglobin referred for screening of hemoglobinopathies in south of Iran...
February 7, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29417859/newborn-screening-for-hemoglobinopathies-and-red-cell-enzymopathies-in-tripura-state-a-malaria-endemic-state-in-northeast-india
#7
Dipti Upadhye, Rajat S Das, Jayanta Ray, Shukdeb Acharjee, Kanjaksha Ghosh, Roshan B Colah, Malay B Mukherjee
Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice. A total of 2400 cord blood samples were collected and analyzed by high performance liquid chromatography (HPLC). Further confirmation of any abnormal HPLC was done by DNA analysis...
February 8, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29403210/prevalence-of-hemoglobin-variants-and-hemoglobinopathies-using-cation-exchange-high-performance-liquid-chromatography-in-central-reference-laboratory-of-india-a-report-of-65779-cases
#8
Sandeep Warghade, Jyothi Britto, Reshma Haryan, Tejaswi Dalvi, Rajesh Bendre, Pratiksha Chheda, Sunmeet Matkar, Yogita Salunkhe, Milind Chanekar, Nilesh Shah
CONTEXT: Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders. AIM: The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India. MATERIALS AND METHODS: A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program...
January 2018: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/29402840/elevations-of-thrombotic-biomarkers-in-hemoglobin-h-disease
#9
Siriyakorn Chansai, Supan Fucharoen, Goonnapa Fucharoen, Arunee Jetsrisuparb, Worawan Chumpia
BACKGROUND: Thalassemia is a group of hereditary hemoglobinopathies caused by decreased or absent synthesis of α and/or β globin chains. Studies have shown that hypercoagulability and thrombosis are common clinical symptoms in β-thalassemia, especially β-thalassemia intermedia, but little is known about in α-thalassemia. This study aims to examine phosphatidylserine (PS) levels, platelet activation, and coagulation markers in splenectomized (S) and nonsplenectomy (NS) patients with hemoglobin (Hb) H disease...
January 18, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29399805/risks-of-red-blood-cell-alloimmunization-in-transfusion-dependent-%C3%AE-thalassemia-in-oman-a-25-year-experience-of-a-university-tertiary-care-reference-center-and-a-literature-review
#10
Arwa Z Al-Riyami, Ayman Al-Muqbali, Saif Al-Sudiri, Sathiya Murthi Panchatcharam, Mathew Zacharia, Sabah Al-Mahrooqi, Saif Al-Hosni, Ali Al-Marhoobi, Shahina Daar
BACKGROUND: β-Thalassemia is a common hemoglobinopathy in the Arabian Peninsula. Red blood cell (RBC) transfusion is a cornerstone for its management, but can create significant challenges including RBC alloimmunization. Herein, we examine alloimmunization risk factors in Omani patients with transfusion-dependent β-thalassemia. Existing literature is summarized. STUDY DESIGN AND METHODS: A retrospective review of all patients attending our center over 25 years was performed...
February 4, 2018: Transfusion
https://www.readbyqxmd.com/read/29398808/diagnosis-of-compound-heterozygous-hb-tak-%C3%AE-thalassemia-and-hbd-punjab-%C3%AE-thalassemia-by-hba2-levels-on-capillary-electrophoresis
#11
Sitthichai Panyasai, Supachai Sakkhachornphop, Sakorn Pornprasert
A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2 levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC)...
January 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29398793/summary-and-review-of-the-abstracts-on-disorders-of-red-cells-and-erythropoiesis-presented-at-haematocon-2016-2017
#12
Prashant Sharma
Disorders of red cells and erythropoiesis encompass a vast array of inherited and acquired conditions, several of which are important not just medically but are also concern public health and policy making. Research in India in this area has been plentiful and has, in the past, focused on the laboratory diagnosis and clinical management of these disorders as well as their basic underlying pathogenesis. In the last 2 years too, papers presented at the annual national conferences of the Indian Society of Haematology and Blood Transfusion, ISHBT (Haematocon 2016 and 2017) presented a snapshot of the contemporary research activities that are ongoing in various academic and other centres...
January 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29389946/the-effect-of-histone-deacetylase-inhibitors-on-ahsp-expression
#13
Mohammad Ali Okhovat, Katayoun Ziari, Reza Ranjbaran, Negin Nikouyan
Alpha-hemoglobin stabilizing protein (AHSP) is a molecular chaperone that can reduce the damage caused by excess free α-globin to erythroid cells in patients with impaired β-globin chain synthesis. We assessed the effect of sodium phenylbutyrate and sodium valproate, two histone deacetylase inhibitors (HDIs) that are being studied for the treatment of hemoglobinopathies, on the expression of AHSP, BCL11A (all isoforms), γ-globin genes (HBG1/2), and some related transcription factors including GATA1, NFE2, EKLF, KLF4, and STAT3...
2018: PloS One
https://www.readbyqxmd.com/read/29385994/effect-of-neoadjuvant-chemotherapy-in-patients-with-gastric-cancer-a-prisma-compliant-systematic-review-and-meta-analysis
#14
Zhi-Feng Miao, Xing-Yu Liu, Zhen-Ning Wang, Ting-Ting Zhao, Ying-Ying Xu, Yong-Xi Song, Jin-Yu Huang, Hao Xu, Hui-Mian Xu
BACKGROUND: Neoadjuvant chemotherapy (NAC) is extensively used in the treatment of patients with gastric cancer (GC), particularly in high risk, advanced gastric cancer. Previous trials testing the efficacy of NAC have reported inconsistent results. METHODS: This study compares the combined use of NAC and surgery with surgery alone for GC by using a meta-analytic approach. We performed an electronic search of PubMed, EmBase, and the Cochrane Library to identify randomized controlled trials (RCTs) on NAC published before Oct 2015...
January 31, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29382003/hemoglobin-hornchurch-%C3%AE-43-cd2-glu-lys-hbb-c-130g-a-in-a-chinese-boy-complicated-with-thrombocytopenia-a-case-report-and-literature-review
#15
Huiping Shi, Zhaoyue Wang
RATIONALE: Hemoglobin Hornchurch is regarded as an asymptomatic hemoglobinopathy with no obvious hematological or clinical abnormalities. Recently, we identified hemoglobin Hornchurch in a 13-year-old Chinese boy complicated with thrombocytopenia, which displayed instability in isopropanol precipitation test. PATIENT CONCERNS: In this case report, we reported a Chinese boy with hemoglobin Hornchurch complicated by thrombocytopenia. The patients have been misdiagnosed as aplastic anemia and myelodysplastic syndrome before...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29379002/bilateral-simultaneous-macular-infarction-with-spontaneous-visual-recovery-in-genotype-ss-hemoglobinopathy-patient
#16
O N Okonkwo, A O Hassan, M E Gyasi, O Oderinlo
To report the rare and dramatic event of bilateral macular infarction in a sickle cell hemoglobinopathy (SS genotype) patient, resulting in bilateral severe reduction in visual acuity. Without any intervention, the patient's vision gradually improved over the follow-up period. Central visual field defects however persisted. A 21-year-old male Nigerian, presented with a 1-week history of bilateral sudden painless loss of vision. His symptom was associated with fever, feeling of heaviness in the chest and head, and a dizzy spell...
December 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29377641/malformations-attributed-to-the-process-of-vascular-disruption
#17
Lewis B Holmes, Marie-Noel Westgate, Hanah Nasri, M Hassan Toufaily
BACKGROUND: Several malformations have been attributed to the process of vascular disruption. The central hypothesis for this etiology is that blood flow to a structure has been altered after that structure had formed normally. The decreased blood flow leads to hypoxia, endothelial cell damage, hemorrhage, tissue loss, and repair. After recovery, some structures are normal and others show either tissue loss or structural abnormalities, such as syndactyly and constriction rings. METHODS: The phenotypic features of the 7,020 infants with one or more malformations, who were born to women who had always planned to deliver at Brigham and Women's Hospital (BWH) between, 1972 and 2012, that is, maternal nontransfers, were reviewed...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29370347/artemisinin-therapy-for-malaria-in-hemoglobinopathies-a-systematic-review
#18
Sri Riyati Sugiarto, Brioni R Moore, Julie Makani, Timothy M E Davis
Artemisinin derivatives are widely used antimalarial drugs. There is some evidence from in vitro, animal and clinical studies that hemoglobinopathies may alter their disposition and antimalarial activity. This review assesses relevant data in α-thalassemia, sickle cell disease (SCD), β-thalassemia and hemoglobin E. There is no convincing evidence that the disposition of artemisinin drugs is affected by hemoglobinopathies. Although in vitro studies indicate that Plasmodium falciparum cultured in thalassemic erythrocytes is relatively resistant to the artemisinin derivatives, mean 50% inhibitory concentrations (IC50s) are much lower than in vivo plasma concentrations after recommended treatment doses...
January 23, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29357790/a-new-era-for-hemoglobinopathies-more-than-one-curative-options
#19
Nikoletta Psatha, Penelope-Georgia Papayanni, Evangelia Yannaki
Hemoglobinopathies, including severe β-thalassemia and sickle cell disease, represent the most common monogenic disorders worldwide. Allogeneic hematopoietic stem cell transplantation (allo-HCT) is the only approved curative option for these syndromes, albeit limited to patients having a suitable donor. Gene therapy, by making use of the patient's own hematopoietic stem cells to introduce a normal copy of the β-globin gene by viral vectors, bridged the gap between the need for cure of patients with hemoglobinopathies and the lack of a donor, without incurring the immunological risks of allo-HSCT...
January 19, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29346667/the-results-of-hemoglobin-variant-analysis-in-patients-revealing-microcytic-erythrocytosis-on-complete-blood-count
#20
Upasana Joneja, Gene Gulati, Alina Dulau Florea, Jerald Gong
Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited. Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders...
January 13, 2018: Laboratory Medicine
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