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Haemoglobinopathy

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https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28926088/treatments-for-priapism-in-boys-and-men-with-sickle-cell-disease
#9
REVIEW
Francis I Chinegwundoh, Sherie Smith, Kofi A Anie
BACKGROUND: Sickle cell disease comprises a group of genetic haemoglobin disorders. The predominant symptom associated with sickle cell disease is pain resulting from the occlusion of small blood vessels by abnormally 'sickle-shaped' red blood cells. There are other complications, including chronic organ damage and prolonged painful erection of the penis, known as priapism. Severity of sickle cell disease is variable, and treatment is usually symptomatic. Priapism affects up to half of all men with sickle cell disease, however, there is no consistency in treatment...
September 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#10
REVIEW
Chin Fang Ngim, Nai Ming Lai, Janet Yh Hong, Shir Ley Tan, Amutha Ramadas, Premala Muthukumarasamy, Meow-Keong Thong
BACKGROUND: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Growth hormone deficiency is one of the factors that can lead to short stature, a common complication in people with thalassaemia...
September 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28893740/an-unusual-presentation-of-chronic-cyanide-toxicity-from-self-prescribed-apricot-kernel-extract
#11
Alex Konstantatos, Malini Shiv Kumar, Aidan Burrell, Joel Smith
Hypoxia under general anaesthesia is a potentially life-threatening condition. A seemingly well 67-year-old man appeared hypoxic with peripheral pulse oximetric measurement during routine anaesthesia. Postoperatively, the patient admitted to daily self-prescription of apricot kernel extract for a period of 5 years. Apricot kernel is a commonly taken extract used for a range of ailments, and is associated with cyanide toxicity, which was confirmed through blood analysis. Our explanation for the hypoxic measurement was the presence of free cyanide interfering with functioning of the peripheral pulse oximeter...
September 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28879424/increasing-the-involvement-of-diverse-populations-in-genomics-based-health-care-lessons-from-haemoglobinopathies
#12
Helen M Robinson
Integrating genomic medicine into health care delivery poses significant challenges to health professionals. To draw clinical benefit from genomic information, there is a need to build an evidence-based relationship between genotype and the physical expression of that genomic information. The work presented here uses preliminary work in the field of haemoglobinopathies to address two important challenges: to ensure that health care professionals in low- and middle-income countries are actively involved in the processes that will support genomic medicine, and that equity and diversity concerns are met so that clinical services can have relevance across all population and sub-population groups...
October 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28833998/association-of-sickle-cell-haemoglobinopathies-with-dental-and-jaw-bone-abnormalities
#13
Sfc Souza, Hlcc de Carvalho, Cps Costa, Ebaf Thomaz
OBJECTIVE: To estimate the association between sickle cell anaemia and trait with dental and jaw bone abnormalities. SUBJECTS AND METHODS: Subjects (n = 369) were allocated to three groups: sickle cell anaemia, trait and control. Dental shape, number, size and position and changes in pulp chamber, root and periapex were analysed by intra-oral periapical radiographs. Integrity of lamina dura, quality of cancellous bone and bone trabeculation were also evaluated...
August 20, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28809446/deferasirox-for-managing-iron-overload-in-people-with-thalassaemia
#14
REVIEW
Claudia Bollig, Lisa K Schell, Gerta Rücker, Roman Allert, Edith Motschall, Charlotte M Niemeyer, Dirk Bassler, Joerg J Meerpohl
BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload...
August 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28764232/co-inheritance-of-haemoglobin-d-punjab-and-beta-thalassemia-a-rare-variant
#15
Kalyan Mansukhbhai Shekhda, Alpa C Leuva, Jyoti G Mannari, Aashka Vikas Ponda, Amee Amin
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. Though, haemoglobin D-Punjab is commonly seen, a heterozygous trait with beta thalassemia is a very rare presentation. Here, we present a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#16
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28763121/proportion-of-daily-capillary-blood-glucose-readings-required-in-the-target-range-for-target-glycaemic-control-shift-of-focus-from-target-range-to-proportion-in-range
#17
S Sivasubramaniyam, S A Amiel, P Choudhary
AIM: Most guidelines provide people with Type 1 diabetes with pre- and post-meal capillary blood glucose (CBG) targets to achieve optimal glycaemic control. We evaluated the proportion of daily CBG readings between 4 and 10 mmol/l in people achieving different HbA1c levels. METHOD: We analysed CBG data from routine pump/meter downloads from 201 adults treated with continuous subcutaneous insulin infusion (CSII) at a single hospital clinic. Exclusion criteria were CSII < 6 months, < 3 CBG/day, pregnancy, haemoglobinopathy and continuous sensor use...
August 1, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28759700/interventions-for-treating-intrahepatic-cholestasis-in-people-with-sickle-cell-disease
#18
REVIEW
Arturo J Martí-Carvajal, Cristina Elena Martí-Amarista
BACKGROUND: Sickle cell disease is the most common hemoglobinopathy occurring worldwide and sickle cell intrahepatic cholestasis is a complication long recognized in this population. Cholestatic liver diseases are characterized by impaired formation or excretion (or both) of bile from the liver. There is a need to assess the clinical benefits and harms of the interventions used to treat intrahepatic cholestasis in people with sickle cell disease. This is an update of a previously published Cochrane Review...
July 31, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28759112/fluid-replacement-therapy-for-acute-episodes-of-pain-in-people-with-sickle-cell-disease
#19
REVIEW
Uduak Okomo, Martin M Meremikwu
BACKGROUND: Treating vaso-occlusive painful crises in people with sickle cell disease is complex and requires multiple interventions. Extra fluids are routinely given as adjunct treatment, regardless of the individual's state of hydration with the aim of slowing or stopping the sickling process and thereby alleviating pain. This is an update of a previously published Cochrane Review. OBJECTIVES: To determine the optimal route, quantity and type of fluid replacement for people with sickle cell disease with acute painful crises...
July 31, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28674233/prevalence-and-spectrum-of-thalassaemia-in-changsha-hunan-province-china-discussion-of-an-innovative-screening-strategy
#20
Jun He, Houlin Zeng, Lin Zhu, Hanmei Li, Liangcheng Shi, Lanping Hu
Hunan province located in the south of China has a high incidence of haemoglobinopathies. In the present study, we surveyed the accurate population frequency data of the local population in Changsha city of Hunan province in China. The data includes the carrying rate, gene mutation types and their distribution features for thalassaemia. In total, 7500 consecutive samples from five geographical areas of Changsha were analysed for both haematological and molecular parameters. Therewas a high prevalence of carriers of α-thalassaemia (2...
June 2017: Journal of Genetics
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