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Haemoglobinopathy

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https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#1
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27893170/safety-profiles-of-iron-chelators-in-young-patients-with-haemoglobinopathies
#2
REVIEW
Sebastian Botzenhardt, Niya Li, Esther W Chan, Chor Wing Sing, Ian C K Wong, Antje Neubert
BACKGROUND: This review describes the safety of deferoxamine (DFO), deferiprone (DFP), deferasirox (DFX), and combined therapy in young patients less than 25 years of age with haemoglobinopathies. METHOD: Searches in electronic literature databases were performed. Studies reporting adverse events associated with iron chelation therapy were included. Study and reporting quality was assessed using AHRQ Risk of Bias Assessment Tool and McMaster Quality Assessment Scale of Harms...
November 28, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27890718/thalassaemia-screening-and-confirmation-of-carriers-in-parents
#3
REVIEW
Angela N Barrett, Ramasamy Saminathan, Mahesh Choolani
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA2 and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27856159/pre-implantation-genetic-diagnosis
#4
REVIEW
Joanne Traeger-Synodinos
The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during assisted reproductive treatment. PGD is a multi-step procedure that requires close collaboration between gynaecologists who are experts in assisted reproduction, embryologists who are experts in micromanipulation of germ cells and in embryo biopsy and geneticists who are experts in genetic analysis at the single-cell level...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27824335/oxidative-insult-can-induce-malaria-protective-trait-of-sickle-and-fetal-erythrocytes
#5
Marek Cyrklaff, Sirikamol Srismith, Britta Nyboer, Kvetoslava Burda, Angelika Hoffmann, Felix Lasitschka, Sophie Adjalley, Cyrille Bisseye, Jacques Simpore, Ann-Kristin Mueller, Cecilia P Sanchez, Friedrich Frischknecht, Michael Lanzer
Plasmodium falciparum infections can cause severe malaria, but not every infected person develops life-threatening complications. In particular, carriers of the structural haemoglobinopathies S and C and infants are protected from severe disease. Protection is associated with impaired parasite-induced host actin reorganization, required for vesicular trafficking of parasite-encoded adhesins, and reduced cytoadherence of parasitized erythrocytes in the microvasculature. Here we show that aberrant host actin remodelling and the ensuing reduced cytoadherence result from a redox imbalance inherent to haemoglobinopathic and fetal erythrocytes...
November 8, 2016: Nature Communications
https://www.readbyqxmd.com/read/27820943/crispr-cas9-%C3%AE-globin-gene-targeting-in-human-haematopoietic-stem-cells
#6
Daniel P Dever, Rasmus O Bak, Andreas Reinisch, Joab Camarena, Gabriel Washington, Carmencita E Nicolas, Mara Pavel-Dinu, Nivi Saxena, Alec B Wilkens, Sruthi Mantri, Nobuko Uchida, Ayal Hendel, Anupama Narla, Ravindra Majeti, Kenneth I Weinberg, Matthew H Porteus
The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene correction in patient-derived haematopoietic stem cells followed by autologous transplantation could be used to cure β-haemoglobinopathies. Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the HBB gene in haematopoietic stem cells...
November 7, 2016: Nature
https://www.readbyqxmd.com/read/27812312/unusual-pattern-in-haemoglobin-electrophoresis-in-croatian-population-a-case-report
#7
Dragana Segulja, Danica Matisic, Lorena Honovic, Josip Batinic, Dunja Rogic
Haemoglobinopathies are hereditary disorders of globin chain synthesis and are the most common inherited diseases worldwide. Haemoglobin E is a structural haemoglobin variant characteristic for South East Asian population. We present a rare and unusual finding of haemoglobin E detected in University Hospital Centre Zagreb by capillary zone electrophoresis. Detection of haemoglobin structural variant helped to avoid misdiagnosis of sideropenic anemia and thus potentially harmful therapeutic intervention. In today's European multiethnic population haemoglobinopathies are a public health issue and Croatian laboratory professionals should be aware of a possibility of finding an unusual haemoglobin pattern...
October 15, 2016: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/27776167/birth-weights-in-sickle-cell-disease-pregnancies-a-cohort-study
#8
Daveena Meeks, Susan E Robinson, David Macleod, Eugene Oteng-Ntim
Pregnancy in women with Sickle Cell Disease (SCD) has been linked with an increased incidence of adverse foetal outcomes when compared to women without haemoglobinopathies (HbAA). There's a paucity of data into foetal outcomes for infants born to women with SCD. Customised growth charts have been demonstrated to be better than population-based growth charts at identifying unhealthy small babies. We analysed the mean birth weight and customised birth weight centiles of infants born to mothers with SCD versus mothers with HbAA genotype, to quantify the risk of having a smaller baby...
2016: PloS One
https://www.readbyqxmd.com/read/27755646/hydroxyurea-for-reducing-blood-transfusion-in-non-transfusion-dependent-beta-thalassaemias
#9
REVIEW
Wai Cheng Foong, Jacqueline J Ho, C Khai Loh, Vip Viprakasit
BACKGROUND: Non-transfusion dependent beta thalassaemia is a subset of inherited haemoglobin disorders characterised by reduced production of the beta globin chain of the haemoglobin molecule leading to anaemia of varying severity. Although blood transfusion is not a necessity for survival, it is required when episodes of chronic anaemia occur. This chronic anaemia can impair growth and affect quality of life. People with non-transfusion dependent beta thalassaemia suffer from iron overload due to their body's increased capability of absorbing iron from food sources...
October 18, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27711980/interventions-for-patients-and-caregivers-to-improve-knowledge-of-sickle-cell-disease-and-recognition-of-its-related-complications
#10
REVIEW
Monika R Asnani, Kim R Quimby, Nadia R Bennett, Damian K Francis
BACKGROUND: Sickle cell disease is a group of genetic diseases which is especially prevalent in tropical and subtropical regions; however, forced migration and ongoing population movement have spread it throughout the world, with estimated birth rates reaching 0.49 per 1000 in the Americas, 0.07 per 1000 in Europe, 0.68 per 1000 in South and Southeast Asia, and 10.68 per 1000 in Africa. Life for individuals with sickle cell disease can be affected by repeated acute complications and compounded by progressive organ damage...
October 6, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27703480/glucose-6-phosphate-dehydrogenase-deficiency-and-sickle-cell-trait-among-prospective-blood-donors-a-cross-sectional-study-in-berekum-ghana
#11
Patrick Adu, David Larbi Simpong, Godfred Takyi, Richard K D Ephraim
Background. Blood transfusion is a therapeutic procedure usually undertaken in patients with severe anaemia. In Ghana, severe anaemia is mostly due to malaria caused by severe Plasmodium falciparum infection, road traffic accidents, and haemoglobinopathy-induced acute haemolysis. Method. This cross-sectional study evaluated coinheritance of sickle cell haemoglobin variant and G6PD enzymopathy among individuals that donated blood at the Holy Trinity Hospital, Berekum, in the Brong-Ahafo Region, Ghana. Demographic data and other pertinent information were captured using questionnaire...
2016: Advances in Hematology
https://www.readbyqxmd.com/read/27673392/inhaled-bronchodilators-for-acute-chest-syndrome-in-people-with-sickle-cell-disease
#12
Jennifer M Knight-Madden, Ian R Hambleton
BACKGROUND: Bronchodilators are used to treat bronchial hyper-responsiveness in asthma. Bronchial hyper-responsiveness may be a component of acute chest syndrome in people with sickle cell disease. Therefore, bronchodilators may be useful in the treatment of acute chest syndrome. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the benefits and risks associated with the use of bronchodilators in people with acute chest syndrome...
September 27, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27629909/annals-express-identification-of-hb-new-york-by-hba1c-measurement-using-the-sebia-capillarys-2-flex-piercing-system
#13
Yan Chao, Zemin Wan, Xiaobin Wu, Feng Qiu, Xinzhong Wu, Yunxiu Wang, Peifeng Ke, Jianhua Xu, Junhua Zhuang, Xianzhang Huang
Haemoglobinopathies may interfere with the hemoglobin A1 c (HbA1 c) measurement, leading to incorrect diagnosis and inappropriate treatment. It is essential that HbA1 c assays are capable of identifying haemoglobinopathies. We report two cases of haemoglobin New York (HbNY) discovered through HbA1 c analysis using capillary electrophoresis (Capillarys 2 Flex Piercing [C2FP], Sebia). We used these samples to evaluate the ability of three other HbA1 c assays to identify this variant: ion-exchange high performance liquid chromatography (HPLC; Variant II Turbo [VII-T], Bio-Rad); boronate affinity HPLC (Ultra(2), Trinity Biotech); and immunoassay (cobas c501 Tina-quant Generation 3, Roche Diagnostics)...
September 13, 2016: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/27599809/pulse-oximetry-error-in-a-patient-with-a-santa-ana-haemoglobinopathy
#14
Alistair Robertson, Amin Rahemtulla
A young man with a rare unstable haemoglobinopathy presented with a high fever, worsening shortness of breath and abdominal pain. At triage his pulse oximetry (SpO2) suggested that his blood oxygen saturation was 84% at room air. However, an arterial blood gas (ABG) oxygen saturation reading (SaO2) was 100%. The significant disparity between the two measurements demonstrates that using pulse oximetry in some unstable haemoglobinopathies may significantly underestimate the actual reading. This error is most probably due to the structural differences in the variant haemoglobin causing light to be absorbed at a different wavelength beyond the normal range of the oximeter...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27574910/blood-transfusions-for-treating-acute-chest-syndrome-in-people-with-sickle-cell-disease
#15
REVIEW
Saeed Dastgiri, Roya Dolatkhah
BACKGROUND: Sickle cell disease is an inherited autosomal recessive blood condition and is one of the most prevalent genetic blood diseases worldwide. Acute chest syndrome is a frequent complication of sickle cell disease, as well as a major cause of morbidity and the greatest single cause of mortality in children with sickle cell disease. Standard treatment may include intravenous hydration, oxygen as treatment for hypoxia, antibiotics to treat the infectious cause and blood transfusions may be given...
August 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27512478/antenatal-haemoglobinopathy-screening-patterns-within-a-large-obstetric-service-working-towards-a-standard-of-care
#16
Orly Lavee, Giselle Kidson-Gerber
BACKGROUND: Antenatal screening can predict clinically significant haemoglobinopathies, however in Australia, practices are not standardised and are evolving as the population becomes more ethnically diverse. This study describes antenatal screening practices in a large Australian laboratory/antenatal service. METHODS: Data were collected retrospectively on consecutive antenatal haemoglobin electrophoresis over 16 months and correlated with obstetric data, obtained from the local obstetric database...
December 2015: Obstetric Medicine
https://www.readbyqxmd.com/read/27502327/treatment-for-avascular-necrosis-of-bone-in-people-with-sickle-cell-disease
#17
REVIEW
Arturo J Martí-Carvajal, Ivan Solà, Luis H Agreda-Pérez
BACKGROUND: Avascular necrosis of bone is a frequent and severe complication of sickle cell disease and its treatment is not standardised. This is an update of a previously published Cochrane Review. OBJECTIVES: To determine the impact of any surgical procedure compared with other surgical interventions or non-surgical procedures, on avascular necrosis of bone in people with sickle cell disease in terms of efficacy and safety. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings...
August 9, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27461962/delta-globin-gene-variations-leading-to-reduction-in-hba2-levels
#18
P Hariharan, S Colaco, R Colah, K Ghosh, A Nadkarni
INTRODUCTION: Mutations in the δ-globin gene are not pathogenically relevant, but co-inheritance of δ-globin variants along with β-globin gene defects can mask the diagnosis of β-thalassaemia trait. METHODS: Routine haematological parameters were carried out. Molecular analysis of β-globin gene mutations was carried out by CRDB, ARMS and DNA sequencing. δ- globin gene analysis was carried out by DNA sequencing. RESULTS: In this case study, we report a β-thalassaemia trait (IVS 1-5G→C) (HBB:c...
December 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27448202/haemoglobinopathy-awareness-among-young-students-in-turkey-outcomes-of-a-city-wide-survey
#19
Ramazan Azim Okyay, Özlem Çelenk, Ersin Nazlıcan, Muhsin Akbaba
The success of prevention programs demonstrated the importance of raising awareness about haemoglobinopathies since the lack of knowledge and awareness about the disorders may serve as barriers to prevention, disclosure of disease status as well as to testing for haemoglobinopathies. The aim of this study is to investigate the knowledge and attitudes of middle and high school students towards haemoglobinopathies in Hatay, where the disorders are prevalent. This cross-sectional study was conducted on 8th and 9th grade students across Hatay including all sub provinces...
2016: PloS One
https://www.readbyqxmd.com/read/27442304/the-experience-of-extended-blood-group-genotyping-by-next-generation-sequencing-ngs-investigation-of-patients-with-sickle-cell-disease
#20
Y Fichou, M Mariez, C Le Maréchal, C Férec
BACKGROUND: Patients suffering from haemoglobinopathies may be treated by red blood cell (RBC) transfusion on a regular basis and then exposed to multiple antigens with a recurrent, potential risk of alloimmunization routinely prevented by extended RBC antigen cross-matching. While time-consuming and labour-intensive serological analyses are the gold standard for RBC typing, genotyping by current high-throughput molecular tools, including next-generation sequencing (NGS), appears to offer a potent alternative...
July 21, 2016: Vox Sanguinis
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