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Hemoglobinopathies

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https://www.readbyqxmd.com/read/29673144/serum-hepcidin-concentration-in-individuals-with-sickle-cell-anemia-basis-for-the-dietary-recommendation-of-iron
#1
Juliana Omena, Cláudia Dos Santos Cople-Rodrigues, Jessyca Dias do Amaral Cardoso, Andrea Ribeiro Soares, Marcos Kneip Fleury, Flávia Dos Santos Barbosa Brito, Josely Correa Koury, Marta Citelli
Dietary iron requirements in patients with sickle cell disease (SCD) remain unclear. SCD is a neglected hemoglobinopathy characterized by intense erythropoietic activity and anemia. Hepcidin is the hormone mainly responsible for iron homeostasis and intestinal absorption. Intense erythropoietic activity and anemia may reduce hepcidin transcription. By contrast, iron overload and inflammation may induce it. Studies on SCD have not evaluated the role of hepcidin in the presence and absence of iron overload. We aimed to compare serum hepcidin concentrations among individuals with sickle cell anemia, with or without iron overload, and those without the disease...
April 17, 2018: Nutrients
https://www.readbyqxmd.com/read/29653206/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-hct-for-hemoglobinopathy-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric-hct
#2
Shalini Shenoy, Javid Gaziev, Emanuele Angelucci, Allison King, Monica Bhatia, Angela Smith, Dorine Bresters, Anne E Haight, Christine N Duncan, Josu de la Fuente, Andrew C Dietz, K Scott Baker, Michael A Pulsipher, Mark C Walters
Allogeneic hematopoietic cell transplantation (HCT) can halt organ damage and eliminate symptoms in hemoglobin disorders, including sickle cell disease (SCD) and thalassemia major (TM). Managing the residual manifestations of pre-HCT disease complications and the long-term effects of HCT requires systematic monitoring, follow-up, and intervention when indicated. Late complications vary with age and disease status at HCT, and with transplant variables such as preparative regimen, donor source and compatibility, and immune reconstitution...
April 10, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29651217/coinheritance-of-sicilian-%C3%AE-%C3%AE-0-thalassemia-and-two-rare-hemoglobin-variants-a-complex-case-of-hemoglobinopathy
#3
Hajar Eftekhari, Maryam Pilehchian Langroudi, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth...
April 2018: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29626925/genetic-and-epigenetic-mechanisms-of-%C3%AE-globin-gene-switching
#4
REVIEW
O V Iarovaia, A P Kovina, N V Petrova, S V Razin, E S Ioudinkova, Y S Vassetzky, S V Ulianov
Vertebrates have multiple forms of hemoglobin that differ in the composition of their polypeptide chains. During ontogenesis, the composition of these subunits changes. Genes encoding different α- and β-polypeptide chains are located in two multigene clusters on different chromosomes. Each cluster contains several genes that are expressed at different stages of ontogenesis. The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view...
April 2018: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29623225/ischemic-colitis-in-sickle-cell-disease-a-case-report-of-a-diagnostic-challenge
#5
Kyle Geary, Jacob Kibrit
Microvascular occlusion serves as the underlying mechanism for the multitude of clinical manifestations of sickle cell disease, one of the most prevalent hemoglobinopathies worldwide. Recurrent painful episodes are the hallmark of this condition. Abdominal pain attributed to an acute painful episode can be indistinguishable from a separate and/or more serious intra-abdominal disease process, representing a significant diagnostic dilemma for clinicians. Here we present a rare case of ischemic colitis due to vascular occlusion in a 28-year-old man with sickle cell disease...
2018: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/29619482/a-comprehensive-review-of-the-prevalence-of-beta-globin-gene-variations-and-the-co-inheritance-of-related-gene-variants-in-saudi-arabians-with-beta-thalassemia
#6
Mousa A Alaithan, Sayed AbdulAzeez, J Francis Borgio
Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. Saudi Arabia is among the countries most affected bybeta-thalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations. In Saudi Arabians, IVSI-5 (G greater than C) and Cd 39 (C greater than T) are the most prevalent HBB gene variations out of 42 variations...
April 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29616639/sickle-cell-disease-with-an-eruptive-appearance-what-is-your-diagnosis
#7
J Iba Ba, I Nseng Nseng, S Coniquet, J B Boguikouma
Lupus is an autoimmune disease of the connective tissues, relatively frequent in the black population, and with a marked female prevalence. Clinical polymorphisms explain the diverse and varied nature of the clinical forms that are sources of diagnostic aberrations. This disease can be associated with various diseases. Here we report an unusual association with AS hemoglobinopathy.
February 1, 2018: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/29614639/microparticles-in-sickle-cell-disease
#8
Marc Romana, Philippe Connes, Nigel S Key
Several pathophysiological pathways in sickle cell disease (SCD), the most prevalent hemoglobinopathy worldwide, result in activation of circulating blood cells and the release of submicron vesicles, so-called microparticles (MPs). MPs are candidate biomarkers in vascular disease that exhibit functional biological properties. Compared to healthy individuals, higher level of plasma MPs, mostly derived from platelets and red blood cells (RBC), has been repeatedly observed in SCD patients in their steady-state condition...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29610478/natural-regulatory-mutations-elevate-the-fetal-globin-gene-via-disruption-of-bcl11a-or-zbtb7a-binding
#9
Gabriella E Martyn, Beeke Wienert, Lu Yang, Manan Shah, Laura J Norton, Jon Burdach, Ryo Kurita, Yukio Nakamura, Richard C M Pearson, Alister P W Funnell, Kate G R Quinlan, Merlin Crossley
β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene. Reactivating the developmentally silenced fetal HBG1 and HBG2 (γ-globin) genes is a therapeutic goal for treating SCD and β-thalassemia1 . Some forms of hereditary persistence of fetal hemoglobin (HPFH), a rare benign condition in which individuals express the γ-globin gene throughout adulthood, are caused by point mutations in the γ-globin gene promoter at regions residing ~115 and 200 bp upstream of the transcription start site...
April 2, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29605204/pulmonary-hypertension-in-chronic-hemolytic-anemias-pathophysiology-and-treatment
#10
REVIEW
Alexandra Haw, Harold I Palevsky
Pulmonary hypertension has emerged as a major cause of morbidity and mortality in patients with hemoglobinopathies and chronic hemolytic anemias. These hematological diseases include - but are not limited to - sickle cell disease (SCD), thalassemia, paroxysmal nocturnal hematuria, and hereditary spherocytosis. Although most studies have been based on the use of echocardiography as a screening tool for pulmonary hypertension as opposed to the gold standard of right heart catheterization for definitive diagnosis, the association between chronic hemolytic anemia and pulmonary hypertension is evident...
April 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29580615/-sao-2-and-pao-2-mismatch-do-not-forget-hemoglobinopathy
#11
E Virot, S Hirschi, M Oswald, T Degot, M Canuet, A-C Galoisy, L Kiger, S Pissard, R Kessler
INTRODUCTION: Different clinico-biological parameters are used to estimate the amount of oxygen available for the organism. Oxygen saturation measured with pulse oxymetry (SpO2 ), oxygen saturation of arterial blood (SaO2 ) and oxygen partial pressure of the arterial blood (PaO2 ) are the most commonly used. CASE REPORT: We report the case of a patient admitted for investigation of respiratory failure in the context of chronic dyspnea of effort. SpO2 and SaO2 were decreased, though the PaO2 was normal...
March 23, 2018: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/29556970/concepts-utility-and-limitations-of-cord-blood-banking-what-clinicians-need-to-know
#12
Dhanya Lakshmi Narayanan, Shubha R Phadke
Stem cell transplantation and cord blood banking have received much popularity among general public and medical professionals in the recent past. But information about the scientific aspects, its utility and limitations is incomplete amongst laypersons as well as many medical practitioners. Stem cells differ from all other types of cells in the human body because of their ability to multiply in order to self perpetuate and differentiate into specialized cells. Stems cells could be totipotent, multipotent, pluripotent, oligopotent or unipotent depending on the type of cells that can arise or differentiate from them...
March 20, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29531652/an-observational-study-of-the-effect-of-hemoglobinopathy-alpha-thalassemia-and-hemoglobin-e-on-p-vivax-parasitemia
#13
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
https://www.readbyqxmd.com/read/29528096/evaluation-of-vaccination-efficiency-against-hbv-among-syrian-multitransfused-patients
#14
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
https://www.readbyqxmd.com/read/29519807/induction-of-fetal-hemoglobin-synthesis-by-crispr-cas9-mediated-editing-of-the-human-%C3%AE-globin-locus
#15
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
https://www.readbyqxmd.com/read/29489976/sickle-cell-retinopathy-a-literature-review
#16
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
https://www.readbyqxmd.com/read/29464999/molecular-characteristics-of-hb-new-york-%C3%AE-113-g15-val%C3%A2-glu-hbb-c-341t-a-in-thailand
#17
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
https://www.readbyqxmd.com/read/29461260/hemolysis-and-immune-regulation
#18
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...
May 2018: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29458736/emerging-therapies
#19
REVIEW
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
https://www.readbyqxmd.com/read/29458733/fertility-and-pregnancy-in-women-with-transfusion-dependent-thalassemia
#20
REVIEW
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
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