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Haemoglobinopathy

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https://www.readbyqxmd.com/read/29453624/hydroxyurea-responses-in-clinically-varied-beta-hbe-beta-thalassaemia-and-sickle-cell-anaemia-patients-of-eastern-india
#1
Tridip Chatterjee, Amit Chakravarty, Sudipa Chakravarty
The haematological and clinical response to hydroxyurea was estimated in HbE-beta, beta thalassaemia and sickle cell anaemia patients of Eastern India, with variable clinical severity and transfusion requirement to determine whether hydroxyurea can help these patients to maintain their steady haemoglobin level without blood transfusions. Three hundred patients (189 HbE-beta thalassaemia, 95 beta thalassaemia and 16 other haemoglobinopathies including sickle cell anaemia) were selected for hydroxyurea therapy and were followed up for 48-60 months...
February 17, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29451223/multidisciplinary-care-of-haemoglobinopathies-in-qatar
#2
Vincenzo De Sanctis
Not available.
February 16, 2018: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29448936/chitinase-3-like-1-is-a-biomarker-of-acute-kidney-injury-and-mortality-in-paediatric-severe-malaria
#3
Andrea L Conroy, Michael T Hawkes, Robyn Elphinstone, Robert O Opoka, Sophie Namasopo, Christopher Miller, Chandy C John, Kevin C Kain
BACKGROUND: Chitinase-3-like 1 (CHI3L1) is a glycoprotein elevated in paediatric severe malaria, and an emerging urinary biomarker of acute kidney injury (AKI). Based on the hypothesis that elevated CHI3L1 levels in malaria are associated with disease severity, the relationship between plasma CHI3L1 levels, AKI and mortality was investigated in Ugandan children enrolled in a clinical trial evaluating inhaled nitric oxide (iNO) as an adjunctive therapy for severe malaria. METHODS: Plasma CHI3L1 levels were measured daily for 4 days in children admitted to hospital with severe malaria and at day 14 follow up...
February 15, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29447985/selected-terpenes-from-leaves-of-ocimum-basilicum-l-induce-hemoglobin-accumulation-in-human-k562-cells
#4
Giordana Feriotto, Nicola Marchetti, Valentina Costa, Piera Torricelli, Simone Beninati, Federico Tagliati, Carlo Mischiati
Re-expression of fetal hemoglobin (HbF) was proposed as a possible therapeutic strategy for β-haemoglobinopathies. Although several inducers of HbF were tested in clinical trials, only hydroxyurea (HU) received FDA approval. Despite it produced adequate HbF levels only in half of HU-treated SCD patients, and was ineffective at all in β-thalassemia patients, beneficial effects of this approach suggested to continue in this direction identifying further molecules capable of inducing HbF. We tested the potential of essential oil isolated from Ocimum basilicum L...
February 13, 2018: Fitoterapia
https://www.readbyqxmd.com/read/29446825/phytomedicines-medicines-derived-from-plants-for-sickle-cell-disease
#5
REVIEW
Oluseyi Oniyangi, Damian H Cohall
BACKGROUND: Sickle cell disease, a common recessively inherited haemoglobin disorder, affects people from sub-Saharan Africa, the Middle East, Mediterranean basin, Indian subcontinent, Caribbean and South America. It is associated with complications and a reduced life expectancy. Phytomedicines (medicine derived from plants in their original state) encompass many of the plant remedies from traditional healers which the populations most affected would encounter. Laboratory research and limited clinical trials have suggested positive effects of phytomedicines both in vivo and in vitro...
February 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29416154/undiagnosed-intraoperative-methaemoglobinaemia
#6
Swapnil Verma, A K Sathpathy, U Srinivas, Sanath Reddy
Methaemoglobinaemia is a rare but potentially dangerous haemoglobinopathy that is often underdiagnosed. It is one of the causes for unexplained cyanosis with dark-coloured blood, especially in the absence of cardiac or pulmonary pathology. Not uncommonly so, it is an incidental perioperative finding in cases of dark-coloured blood not improving with oxygen in apparently acyanotic patients. The present case report is of a child with deaf-mutism posted for cochlear implant surgery who presented with 'chocolate-coloured blood' in the surgical field, despite blood gas analysis showing a normal partial pressure of oxygen...
January 2018: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/29371742/multiple-complications-in-sickle-cell-anaemia
#7
Taimoor Khalid Janjua, Syeda Amna Haider, Naila Raza
Sickle Cell Disease (SCD) is a structural haemoglobinopathy which is extremely diverse in its presentation regarding disease severity and organ involved. The homozygous form if poorly managed gives rise to numerous life threatening conditions which are otherwise avoidable. Here we report the case of a male adolescent with homozygous SCD who presented with haemolytic anaemia, massive ascites, hepatomegaly and multiple fractures secondary to severe malnourishment associated with the disease.
January 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29363748/haematology-patients-and-the-risk-of-transfusion-transmitted-infection
#8
REVIEW
Louise I Ainley, Patricia E Hewitt
A 2014 study by NHS Blood and Transplant indicated that over one quarter of red cells were transfused to patients with haematological conditions. For platelet components, the figure is higher. Certain diagnostic groups, such as haemoglobinopathies, myelodysplastic syndromes and some haemato-oncology patients, receive multiple transfusion episodes, either over long periods, or more intensively over shorter periods. Haematology patients account for the majority of the multi-transfused population. The risk of transfusion-transmitted infection (TTI) increases with number of donor exposures, and the consequences of TTI are often more significant in immunosuppressed individuals...
January 24, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29353708/adolescents-experiences-of-living-with-sickle-cell-disease-an-integrative-narrative-review-of-the-literature
#9
REVIEW
Brenda Agyeiwaa Poku, Ann-Louise Caress, Susan Kirk
BACKGROUND: Sickle Cell Disease is the commonest monogenic haemoglobinopathy worldwide. Living with a long-term condition such as sickle cell disease during adolescence constitutes a significant challenge for the key stakeholders due to the combined effects of chronic illness and adolescent development. For adolescents with sickle cell disease to be cared for and supported appropriately and effectively, it is crucial that health professionals have a comprehensive knowledge and understanding of how adolescents experience living with the condition...
December 27, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/29325430/rapid-and-sensitive-assessment-of-globin-chains-for-gene-and-cell-therapy-of-haemoglobinopathies
#10
Constantinos Christos Loucari, Petros Patsali, Thamar B van Dijk, Coralea Stephanou, Panayiota Papasavva, Maria Zanti, Ryo Kurita, Yukio Nakamura, Soteroulla Christou, Maria Sitarou, Sjaak Philipsen, Carsten Werner Lederer, Marina Kleanthous
The β-haemoglobinopathies sickle cell anaemia and β-thalassaemia are the focus of many gene-therapy studies. A key disease parameter is the abundance of globin chains, because it indicates the level of anaemia, likely toxicity of excess or aberrant globins, and therapeutic potential of induced or exogenous β-like globins. Reversed-phase high-performance liquid chromatography (HPLC) allows versatile and inexpensive globin quantification, but commonly applied protocols suffer either from long run times, high sample requirements or inability to separate murine from human β-globin chains...
January 12, 2018: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/29237357/understanding-of-the-significance-and-health-implications-of-asplenia-in-a-cohort-of-patients-with-haemaglobinopathy-possible-benefits-of-a-spleen-registry
#11
Chamath Premawardena, Donald Bowden, Zane Kaplan, Claire Dendle, Ian John Woolley
OBJECTIVES: Asplenia and hyposplenism carry a significant risk of ongoing morbidity and mortality which can be reduced by education, vaccination and antibiotic use. We aimed to assess education and other methods of prevention in a cohort of patients with haemoglobinopathy in a tertiary referral centre, which also had access to a post-splenectomy registry created to reduce post-splenectomy infection risk. METHODS: A standardized questionnaire was used on patients who attended the service for regular therapy...
December 13, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29229715/a-15-year-old-boy-with-sickle-cell-disease-chest-pain-and-respiratory-distress
#12
Yves D Pastore, Nancy Robitaille, Veronique Naessens
No abstract text is available yet for this article.
December 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#13
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29193029/recent-progress-in-understanding-and-manipulating-haemoglobin-switching-for-the-haemoglobinopathies
#14
REVIEW
Divya S Vinjamur, Daniel E Bauer, Stuart H Orkin
The major β-haemoglobinopathies, sickle cell disease and β-thalassaemia, represent the most common monogenic disorders worldwide and a steadily increasing global disease burden. Allogeneic haematopoietic stem cell transplantation, the only curative therapy, is only applied to a small minority of patients. Common clinical management strategies act mainly downstream of the root causes of disease. The observation that elevated fetal haemoglobin expression ameliorates these disorders has motivated longstanding investigations into the mechanisms of haemoglobin switching...
November 28, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29181452/prevalences-of-inherited-red-blood-cell-disorders-in-pregnant-women-of-different-ethnicities-living-along-the-thailand-myanmar-border
#15
Germana Bancone, Mary Ellen Gilder, Nongnud Chowwiwat, Gornpan Gornsawun, Elsi Win, Win Win Cho, Eh Moo, Aung Myat Min, Prakaykaew Charunwatthana, Verena I Carrara, Nicholas J White, Francois Nosten, Rose McGready
Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies  among the pregnant population living along the Thailand-Myanmar border...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29157184/co-inheritance-of-hbb-c-106g%C3%A2-%C3%A2-c-a-rare-single-nucleotide-variation-at-position-56-relative-to-transcription-initiation-site-with-other-known-mutations-in-the-globin-clusters
#16
Margherita Vinciguerra, Cristina Passarello, Filippo Cassarà, Filippo Leto, Monica Cannata, Elisa Ferro, Davide Anzà, Giuseppina Calvaruso, Aurelio Maggio, Antonino Giambona
Objectives We performed molecular analysis to evaluate clinical implications of a rare nucleotide change, particularly when co-inherited with other known mutations in the globin clusters, in order to conduct an appropriate genetic counselling. Methods Complete blood cell counts and high-performance liquid chromatography were the routine first level analysis for patients referred to our Hospital Center in Palermo to undergo the screening test for haemoglobinopathies. Sequencing analysis was the selected method for the phenotypic characterization, especially in case of new or very rare mutations in globin genes...
November 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29112240/splenectomy-versus-conservative-management-for-acute-sequestration-crises-in-people-with-sickle-cell-disease
#17
REVIEW
Shirley Owusu-Ofori, Tracey Remmington
BACKGROUND: Acute splenic sequestration crises are a complication of sickle cell disease, with high mortality rates and frequent recurrence in survivors of first attacks. Splenectomy and blood transfusion, with their consequences, are the mainstay of long-term management used in different parts of the world. This is a 2017 update of a Cochrane Review first published in 2002, and previously updated, most recently in 2015. OBJECTIVES: To assess whether splenectomy (total or partial), to prevent acute splenic sequestration crises in people with sickle cell disease, improved survival and decreased morbidity in people with sickle cell disease, as compared with regular blood transfusions...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29044482/hematopoietic-stem-cell-transplantation-for-gaucher-disease
#18
REVIEW
Usha R Somaraju, Krishna Tadepalli
BACKGROUND: Gaucher disease is the most common lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Current treatment of the disease involves a choice from enzyme replacement therapy, substrate reduction therapy and hemotopoietic stem cell transplantation (HSCT). HSCT is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease. This is an update of a previously published Cochrane Review...
October 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28994899/prophylactic-antibiotics-for-preventing-pneumococcal-infection-in-children-with-sickle-cell-disease
#19
REVIEW
Angela E Rankine-Mullings, Shirley Owusu-Ofori
BACKGROUND: Persons with sickle cell disease (SCD) are particularly susceptible to infection. Infants and very young children are especially vulnerable. The 'Co-operative Study of Sickle Cell Disease' observed an incidence rate for pneumococcal septicaemia of 10 per 100 person years in children under the age of three years. Vaccines, including customary pneumococcal vaccines, may be of limited use in this age group. Therefore, prophylactic penicillin regimens may be advisable for this population...
October 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28959071/misleading-presentation-of-haemoglobin-electrophoresis-data
#20
Patrick Adu, Nicodemus L Simpong, Kate Kontor, Richrd Kd Ephraim
Haemoglobinopathies are common in sub-Saharan Africa. As such haemoglobin electrophoresis are required to inform clinical decision making. However, haemoglobin electrophoresis is an assay that detects protein at either alkaline or acidic pH. Such assays do not interrogate gene sequences but rather the product of a gene. As many post-transcriptional and post-translational modifications impact the final output of the gene (i.e. protein), presentation of such protein-based assay must accurately reflect the technique employed...
March 2017: Ghana Medical Journal
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