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thalassemia and hemoglobinopathies

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https://www.readbyqxmd.com/read/29773497/indications-for-red-cell-transfusions-in-pediatric-patients
#1
REVIEW
Jill M Cholette, Suzie A Noronha, Jerard Seghatchian, Neil Blumberg
Red cell transfusions are amongst the most common therapeutic procedures in seriously ill children, particularly in the inpatient setting. This is despite the fact that there is no evidence base for most clinical settings, with the exception of patients with hemoglobinopathies, particularly thalassemia and sickle cell anemia. Obviously exsanguinating hemorrhage and life threatening anemia are urgent indications for which no other therapeutic approach is currently available. Most transfusions are, however, given prophylactically to prevent the complications of hypoxia or hemodynamic stability, based upon expert opinion and a faith in the oxygen carrying capacity and beneficial hemodynamic properties of transfused red cells...
May 10, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29761562/comparison-between-capillary-zone-electrophoresis-and-capillary-isoelectric-focusing-for-thalassemia-screening-in-southern-china
#2
Feng Lu, Qingkai Dai, Xia Zhang, Wenjie Zhou, Ju Gao, Ge Zhang
BACKGROUND: Capillary isoelectric focusing is a type of capillary electrophoresis method newly used for thalassemia screening in China. Although the good performance has been proved by several studies, whether it can best suit the special needs of Chinese patients still requires further investigations. METHODS: Comparisons were made between capillary zone electrophoresis method applied on Sebia Minicap and capillary isoelectric focusing method applied on Helena V8 platform E-class on identifying Hb E, Hb CS, Hb H, and Hb Barts for patients from southern China...
May 14, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29761371/tolerability-and-efficacy-of-deferasirox-in-patients-with-transfusional-iron-overload-results-from-a-german-2-year-non-interventional-study
#3
Florian Nolte, Holger Nückel, Burkhard Schmidt, Thomas Geer, Oleg Rubanov, Holger Hebart, Andrea Jarisch, Stefan Albrecht, Christiane Johr, Christiane Schumann, Wolf-Karsten Hofmann
BACKGROUND: Iron overload (IOL) due to repetitive transfusions of packed red blood cells (pRBC) has a major impact on morbidity and mortality in patients with inherited bone marrow failure syndromes and hemoglobinopathies such as thalassemia and sickle cell disease. However, whether IOL influences the outcome of elderly patients with myeloid malignancies is not yet clear. Moreover, clinical trials have reported high drop-out rates during treatment with the oral iron chelator deferasirox (DFX)...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29751732/population-screening-for-hemoglobinopathies
#4
H W Goonasekera, C S Paththinige, V H W Dissanayake
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases...
May 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29742871/the-effect-of-abo-blood-groups-hemoglobinopathy-and-heme-oxygenase-1-polymorphisms-on-malaria-susceptibility-and-severity
#5
Jiraporn Kuesap, Kesara Na-Bangchang
Malaria is one of the most important public health problems in tropical areas on the globe. Several factors are associated with susceptibility to malaria and disease severity, including innate immunity such as blood group, hemoglobinopathy, and heme oxygenase-1 (HO-1) polymorphisms. This study was carried out to investigate association among ABO blood group, thalassemia types and HO-1 polymorphisms in malaria. The malarial blood samples were collected from patients along the Thai-Myanmar border. Determination of ABO blood group, thalassemia variants, and HO-1 polymorphisms were performed using agglutination test, low pressure liquid chromatography and polymerase chain reaction, respectively...
April 2018: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/29737797/thalassemia-and-other-hemoglobinopathies-among-anemic-individuals-in-metro-manila-philippines-and-their-intake-of-iron-supplements
#6
Mario V Capanzana, Ma Angelina L Mirasol, Geoffry Smith, Imelda Angeles-Agdeppa, Leah Perlas, Francisco de Los Reyes, Maria Sofia Amarra
BACKGROUND AND OBJECTIVES: Iron deficiency is the most common cause of anemia worldwide. In Southeast Asia, studies showed that genetic hemoglobin disorders also contribute significantly to the burden of anemia. The study aimed to estimate the proportion of thalassemia and other hemoglobinopathies versus iron deficiency and other causes in a sample of anemic individuals; describe the characteristics of thalassemic subjects in terms of severity of anemia, adequacy of iron stores, and hematological profile; examine the intake of iron supplements among individuals with varying causes of anemia...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29704633/myb-a-regulatory-factor-in-hematopoiesis
#7
REVIEW
Xunde Wang, Nikolaos Angelis, Swee Lay Thein
MYB is a transcription factor which was identified in birds as a viral oncogene (v-MYB). Its cellular counterpart was subsequently isolated as c-MYB which has three functional domains - DNA binding domain, transactivation domain and negative regulatory domain. c-MYB is essential for survival, and deletion of both alleles of the gene results in embryonic death. It is highly expressed in hematopoietic cells, thymus and neural tissue, and required for T and B lymphocyte development and erythroid maturation. Additionally, aberrant MYB expression has been found in numerous solid cancer cells and human leukemia...
April 25, 2018: Gene
https://www.readbyqxmd.com/read/29697146/red-blood-cell-specifications-for-patients-with-hemoglobinopathies-a-systematic-review-and-guideline
#8
REVIEW
Veerle Compernolle, Stella T Chou, Susano Tanael, William Savage, Jo Howard, Cassandra D Josephson, Isaac Odame, Christopher Hogan, Gregory Denomme, Nadine Shehata
BACKGROUND: Red blood cell (RBC) transfusions remain essential in the treatment of patients with sickle cell disease (SCD) and β-thalassemia. Alloimmunization, a well-documented complication of transfusion, increases the risk of delayed hemolytic transfusion reactions, complicates crossmatching and identifying compatible units, and delays provision of transfusions. Guidance is required to optimize the RBC product administered to these patients. STUDY DESIGN AND METHODS: An international, multidisciplinary team conducted a systematic review and developed, following the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology, recommendations to assist treating physicians and transfusion specialists in their decision to select RBCs for these patients...
April 26, 2018: Transfusion
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
#9
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
#10
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
#11
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/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
#12
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/29610478/natural-regulatory-mutations-elevate-the-fetal-globin-gene-via-disruption-of-bcl11a-or-zbtb7a-binding
#13
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
#14
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/29531652/an-observational-study-of-the-effect-of-hemoglobinopathy-alpha-thalassemia-and-hemoglobin-e-on-p-vivax-parasitemia
#15
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/29519807/induction-of-fetal-hemoglobin-synthesis-by-crispr-cas9-mediated-editing-of-the-human-%C3%AE-globin-locus
#16
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 clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) (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...
April 26, 2018: Blood
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...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29458736/emerging-therapies
#18
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
#19
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
https://www.readbyqxmd.com/read/29458726/clinical-classification-screening-and-diagnosis-for-thalassemia
#20
REVIEW
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
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