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Suparak Para, Punchalee Mungkalasut, Makamas Chanda, Issarang Nuchprayoon, Srivicha Krudsood, Chalisa Louicharoen Cheepsunthorn
Background: The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax . Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax in Southeast Asian malaria patients in Thailand. Methods: A total of 210 malaria patients, admitted to the Hospital for Tropical Diseases, Thailand during 2011-2012, consisting of 159 Myanmeses, 13 Karens, 26 Thais, 3 Mons, 3 Laotians, and 6 Cambodians were recruited...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Wadad Yazji, Wafaa Habal, Fawza Menem
This cross-sectional study estimates HBV prevalence and evaluates vaccination efficiency among multitransfused patients. 159 patients with various hemoglobinopathies were tested for HBsAg, anti-HBs, and anti-HBc, using enzyme-linked immunosorbent assay (ELISA). The serological results were then compared with the relevant documentation in medical records. Seropositivity of HBV was detected in 1/8 of recruited patients. Serological immunity was found in only half of patients, while the other half were either infected or non-immune...
March 5, 2018: Eastern Mediterranean Health Journal, la Revue de Santé de la Méditerranée Orientale
Chiara Antoniani, Vasco Meneghini, Annalisa Lattanzi, Tristan Felix, Oriana Romano, Elisa Magrin, Leslie Weber, Giulia Pavani, Sara El Hoss, Ryo Kurita, Yukio Nakamura, Thomas J Cradick, Ante S Lundberg, Matthew Porteus, Mario Amendola, Wassim El Nemer, Marina Cavazzana, Fulvio Mavilio, Annarita Miccio
Naturally occurring, large deletions in the β-globin locus result in hereditary persistence of fetal hemoglobin, a condition that mitigates the clinical severity of sickle-cell disease (SCD) and β-thalassemia. We designed a CRISPR/Cas9 strategy to disrupt a 13.6-kb genomic region encompassing the δ- and β-globin genes and a putative γ-δ intergenic fetal hemoglobin (HbF) silencer. Disruption of just the putative HbF silencer results in a mild increase in γ-globin expression, whereas deletion or inversion of a 13...
March 8, 2018: Blood
Marina Viegas Moura Rezende Ribeiro, João Vitor de Omena Jucá, Anna Luyza Correia Dos Santos Alves, Caio Victor Oliveira Ferreira, Fabiano Timbó Barbosa, Êurica Adélia Nogueira Ribeiro
Hemoglobinopathies are a group of hereditary diseases that cause quantitative or qualitative changes in the shape, function or synthesis of hemoglobin. One of the most common is sickle cell anemia, which, due to sickling of erythrocytes, causes vaso-occlusive phenomena. Among the possible ocular manifestations, the most representative is retinopathy, which can lead to blindness if left untreated. Therefore, periodic ophthalmologic monitoring of these patients is important for early diagnosis and adequate therapeutic management, which can be done localy by treating the lesions in the eyes, or systemically...
December 2017: Revista da Associação Médica Brasileira
Attawut Chaibunruang, Kritsada Singha, Hataichanok Srivorakun, Goonnapa Fucharoen, Supan Fucharoen
Hb New York or Hb Kaohsiung [β113(G15)Val→Glu (GTG>GAG), HBB: c.341T>A] has been considered a rare β hemoglobin (Hb) variant found originally in an Iranian woman and later in diverse populations but its genetic origin has not been elucidated. Here we report molecular and hematological descriptions of this variant found in the Thai population. Among 5643 subjects referred for hemoglobinopathy investigation during January 2015 to September 2017, 183 (3.2%) were found to carry several Hb variants, including β chain variants (n = 135, 2...
February 21, 2018: Hemoglobin
Hui Zhong, Karina Yazdanbakhsh
PURPOSE OF REVIEW: Hemolytic anemias caused by premature destruction of red blood cells occur in many disorders including hemoglobinopathies, autoimmune conditions, during infection or following reaction to drugs or transfusions. Recent studies which will be reviewed here have uncovered several novel mechanisms by which hemolysis can alter immunological functions and increase the risk of severe complications in hemolytic disorders. RECENT FINDINGS: Plasma-free heme can induce the formation of neutrophil extracellular traps (NETs) through reactive oxygen species signaling...
February 15, 2018: Current Opinion in Hematology
Amaliris Guerra, Khaled M Musallam, Ali T Taher, Stefano Rivella
At present, the only definitive cure for β-thalassemia is a bone marrow transplant (BMT); however, HLA-blood-matched donors are scarcely available. Current therapies undergoing clinical investigation with most potential for therapeutic benefit are the β-globin gene transfer of patient-specific hematopoietic stem cells followed by autologous BMT. Other emerging therapies deliver exogenous regulators of several key modulators of erythropoiesis or iron homeostasis. This review focuses on current approaches for the treatment of hemoglobinopathies caused by disruptions of β-globin...
April 2018: Hematology/oncology Clinics of North America
Katie T Carlberg, Sylvia T Singer, Elliott P Vichinsky
As more women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both the mother and baby requires concerted, collaborative efforts between practitioners and the family. Proactive counseling, early fertility evaluation, recent developments in reproductive technology, and optimal management of iron overload, have resulted in more successful pregnancies and the birth of healthy newborns. With advances in technology for prenatal screening and increased awareness to perform screening for hemoglobinopathies, healthy pregnancy outcomes have become the expectation...
April 2018: Hematology/oncology Clinics of North America
Vip Viprakasit, Supachai Ekwattanakit
At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia. This classification is based on the clinical severity of patients determining whether they do require regular blood transfusions to survive (transfusion-dependent thalassemia) or not (non-transfusion-dependent thalassemia). In addition to the previous terminology of "thalassemia major" or "thalassemia intermedia," this classification has embraced all other forms of thalassemia syndromes such as α-thalassemia, hemoglobin E/β-thalassemia and combined α- and β-thalassemias...
April 2018: Hematology/oncology Clinics of North America
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
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
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
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
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
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
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
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
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
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
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
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