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Haemoglobinopathy

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https://www.readbyqxmd.com/read/28550188/recommendations-for-splenectomy-in-hereditary-hemolytic-anemias
#1
Achille Iolascon, Immacolata Andolfo, Wilma Barcellini, Francesco Corcione, Loïc Garçon, Lucia De Franceschi, Claudio Pignata, Giovanna Graziadei, Dagmar Pospisilova, David C Rees, Mariane de Montalembert, Stefano Rivella, Antonella Gambale, Roberta Russo, Leticia Ribeiro, Jules Vives-Corrons, Patricia Aguilar-Martinez, Antonis Kattamis, Beatrice Gulbis, Maria Domenica Cappellini, Irene Roberts, Hannah Tamary
Hereditary hemolytic anemias are a group of disorders including red cell membrane defects, red blood cells enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and haemoglobinopathies. As damaged red blood cells passing through the spleen red pulp are efficiently removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications...
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#2
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28511389/variability-of-iron-load-in-patients-of-sickle-cell-anaemia-hbss-a-study-from-eastern-india
#3
Pranati Mohanty, Rabindra Kumar Jena, Sudha Sethy
INTRODUCTION: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the β-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least studied also. It is characterized by lifelong haemolytic anaemia requiring red cell transfusion leading to iron overload. In contrast, there is very high incidence of deficiency of iron, folic acid and vitamin B12. AIM: Our objective was to access the Iron status of SCA patients and to find its correlation with various parameters like red cell transfusion, haemolysis and serum hepcidin...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28504327/preferences-for-prenatal-diagnosis-of-sickle-cell-disorder-a%C3%A2-discrete-choice-experiment-comparing-potential-service-users%C3%A2-and-health-care-providers
#4
Melissa Hill, Eugene Oteng-Ntim, Frida Forya, Mary Petrou, Stephen Morris, Lyn S Chitty
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice. OBJECTIVE: Determine service user and provider preferences for key attributes of prenatal diagnostic tests for SCD and examine views on NIPD. METHOD: A questionnaire that includes a discrete choice experiment was used to determine the preferences of service users and providers for prenatal tests that varied across three attributes: accuracy, time of test and risk of miscarriage...
May 15, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28480998/evaluation-of-osmocells-a-new-semi-automatic-device-for-osmotic-fragility-assessment
#5
D Gérard, A-J Fattet, C Brakta, A Phulpin, D Steschenko, J-F Lesesve, J Perrin
INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method...
May 8, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#6
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28417035/jaw-osteomyelitis-as-a-complication-of-sickle-cell-anaemia-in-three-omani-patients-case-reports-and-literature-review
#7
Hilal Al-Ismaili, Omar Nasim, Abdulaziz Bakathir
Sickle cell anaemia (SCA) is a common haemoglobinopathy among people from the Middle East, the Afro-Caribbean region, the Mediterranean and East India. While osteomyelitis of the long bones is a well-documented complication of SCA, there are few documented cases of SCA patients presenting with jaw osteomyelitis. We report three SCA patients with chronic jaw osteomyelitis who presented to the Department of Oral Health, Sultan Qaboos University Hospital, Muscat, Oman, between 2009 and 2013. Two of the patients had osteomyelitis of the mandible and the third had osteomyelitis of the maxilla...
February 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28409830/magnesium-for-treating-sickle-cell-disease
#8
REVIEW
Nan Nitra Than, Htoo Htoo Kyaw Soe, Senthil K Palaniappan, Adinegara Bl Abas, Lucia De Franceschi
BACKGROUND: Sickle cell disease is an autosomal recessive inherited haemoglobinopathy which causes painful vaso-occlusive crises due to sickle red blood cell dehydration. Vaso-occlusive crises are common painful events responsible for a variety of clinical complications; overall mortality is increased and life expectancy decreased compared to the general population. Experimental studies suggest that intravenous magnesium has proven to be well-tolerated in individuals hospitalised for the immediate relief of acute (sudden onset) painful crisis and has the potential to decrease the length of hospital stay...
April 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#9
Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová Striežencová, Michaela Macichová, Adriena Sakalová
BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing...
March 2017: Central European Journal of Public Health
https://www.readbyqxmd.com/read/28371817/rheumatological-complications-of-beta-thalassaemia-an-overview
#10
Mohammad Hassan A Noureldine, Ali T Taher, Ali A Haydar, Ahmad Berjawi, Munther A Khamashta, Imad Uthman
Beta-thalassaemia, an autosomal recessive haemoglobinopathy, ranks among the most frequent monogenetic diseases globally. The severe form of the disease, beta-thalassaemia major, is accompanied by progressive involvement of multiple organ systems as a result of the disease pathophysiology as well as iron overload from blood transfusions on a regular basis. Some of the manifestations might also be caused by medications used to manage iron overload. The purpose of this review is to highlight the rheumatological complications of beta-thalassaemia, which include musculoskeletal manifestations, such as arthritis and arthropathies, joint effusions, osteoporosis, bone fractures and myalgias, in addition to CTDs, such as pseudoxanthoma elasticum...
March 22, 2017: Rheumatology
https://www.readbyqxmd.com/read/28293406/%C3%AE-thalassemia-distribution-in-the-old-world-an-ancient-disease-seen-from-a-historical-standpoint
#11
REVIEW
Vincenzo De Sanctis, Christos Kattamis, Duran Canatan, Ashraf T Soliman, Heba Elsedfy, Mehran Karimi, Shahina Daar, Yasser Wali, Mohamed Yassin, Nada Soliman, Praveen Sobti, Soad Al Jaouni, Mohamed El Kholy, Bernadette Fiscina, Michael Angastiniotis
BACKGROUND: Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β(+)) or absence (β(o)) of the β-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28292285/congenital-malformations-and-medical-conditions-associated-with-orofacial-clefts-in-children-in-burkina-faso
#12
Kisito Nagalo, Isso Ouédraogo, Jean-Martin Laberge, Louise Caouette-Laberge, Jean Turgeon
BACKGROUND: Orofacial clefts are usually isolated cases but can be associated with other congenital malformations that are either recognised or unrecognised syndromes. The reported prevalence and pattern of such associated malformations, however, vary among studies. OBJECTIVES: To assess the frequencies and aetiologies of congenital malformations and associated medical conditions in children with orofacial clefts in Burkina Faso (Western Africa). METHODS: A retrospective descriptive study was carried out at the El Fateh-Suka Clinic in Ouagadougou, Burkina Faso...
March 14, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28260250/high-rates-of-potentially-infectious-exposures-between-immunocompromised-patients-and-their-companion-animals-an-unmet-need-for-education
#13
Greta A Gurry, Veronique Campion, Chamath Premawardena, Ian Woolley, Jake Shortt, Donald K Bowden, Zane Kaplan, Claire Dendle
A cross-sectional survey of 265 adult patients with haematological malignancy, haemoglobinopathy or human immunodeficiency virus was performed to determine the potential risk of infection from animal exposures. One hundred and thirty-seven (52%) owned an animal; the majority were dogs (74%) and cats (39%), but 14% owned birds and 3% reptiles. Eighty percent engaged in behaviour with their animals that potentially put them at risk of zoonotic infections. The most frequent behaviours were picking up animal faeces 72 (52%), cleaning animal areas 69 (50%) and allowing animals to sleep in the same bed 51 (37%)...
March 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28228042/haemoglobin-f-a2-and-s-levels-in-subjects-with-or-without-sickle-cell-trait-in-south-eastern-gabon
#14
Landry-Erik Mombo, Gaël Mabioko-Mbembo, Roland-Fabrice Kassa-Kassa, Emmanuel Ontsitsagui, Statiana Mboui-Ondo, Leatitia Nzé-Kamsi, Dieudonné Nkoghé, Jacques Elion
BACKGROUND: Infant mortality due to sickle cell disease in sub-Saharan Africa is high, necessitating a better understanding of the modulating factors of the disease in this region. METHODS: We assessed the hereditary persistence of foetal haemoglobin and α-thalassemia. We diagnosed 787 subjects, with or without sickle cell trait, by capillary electrophoresis in the Medical Diagnostic Laboratory of the CIRMF (Franceville, Gabon). RESULTS: Heterocellular and pancellular forms of hereditary persistence of foetal haemoglobin occurred at low rates of 10...
February 23, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28218017/molecular-and-clinical-analysis-of-haemoglobin-lepore-in-campania-a-region-of-southern-italy
#15
Paolo Ricchi, Massimiliano Ammirabile, Anna Spasiano, Silvia Costantini, Tiziana Di Matola, Patrizia Cinque, Caterina Saporito, Aldo Filosa, Leonilde Pagano
OBJECTIVE: To date in Italy, there is paucity on data about the prevalence, clinical and haematological features of patients carrying the haemoglobin (Hb) Lepore variant in homozygous or in association with other haemoglobinopathies. METHODS: Here we report the results of a retrospective analysis on 33 patients from Campania, a region of Southern Italy, historically followed at 'UOSD Malattie Rare del Globulo Rosso' of Cardarelli hospital, Naples, Italy. RESULTS: We described 33 patients carrying the Hb Lepore variant: 21 compound heterozygotes with a common thalassaemia allele, six patients with homozygous state for Hb Lepore, five patients with Hb Lepore/Hb S and one patient with Hb Lepore/Hb Neapolis were identified...
February 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28208888/haemoglobinopathies-and-%C3%AE-thalassaemia-among-the-tribals-working-in-the-tea-gardens-of-assam-india
#16
Anju Barhai Teli, Rumi Deori, Sidhartha Protim Saikia
INTRODUCTION: Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less. AIM: The present study was carried out to determine the prevalence of haemoglobinopathies and β-thalassaemia among the tribals working in the tea gardens of Assam. MATERIALS AND METHODS: A total 1204 samples from the tribals working in tea gardens of Assam were analysed for both Complete Blood Count (CBC) and High Pressure Liquid Chromatography (HPLC) for detection of haemoglobinopathies and β-thalassaemia...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#17
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28105296/the-efficacy-and-safety-of-sofosbuvir-containing-regimen-in-the-treatment-of-hcv-infection-in-patients-with-haemoglobinopathy
#18
N R Hussein
No abstract text is available yet for this article.
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28101309/patients-with-haemoglobinopathies-and-chronic-hepatitis-c-a-real-difficult-to-treat-population-in-2016
#19
Kalliopi Zachou, Pinelopi Arvaniti, Nikolaos K Gatselis, Kalliopi Azariadis, Georgia Papadamou, Eirini Rigopoulou, George N Dalekos
BACKGROUND & OBJECTIVES: In the past, patients with haemoglobinopathies were at high risk of acquiring hepatitis C virus (HCV) due to multiple transfusions before HCV screening. In these patients, the coexistence of haemochromatosis and chronic hepatitis C (CHC) often leads to more severe liver disease. We assessed the HCV prevalence, clinical characteristics and outcome in this setting with particular attention to the response to treatment including therapies with the new direct acting antivirals (DAAs)...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28097791/alpha-thalassaemia-promotes-frequent-vaso-occlusive-crises-in-children-with-sickle-cell-anaemia-through-haemorheological-changes
#20
Céline Renoux, Philippe Connes, Elie Nader, Sarah Skinner, Camille Faes, Marie Petras, Yves Bertrand, Nathalie Garnier, Daniela Cuzzubbo, Lydia Divialle-Doumdo, Kamila Kebaïli, Cécile Renard, Alexandra Gauthier, Maryse Etienne-Julan, Giovanna Cannas, Cyril Martin, Marie-Dominique Hardy-Dessources, Vincent Pialoux, Marc Romana, Philippe Joly
BACKGROUND: Sickle cell anaemia (SCA) is a severe hereditary haemoglobinopathy characterised by haemorheological abnormalities, which play a role in the occurrence of several acute and chronic clinical complications. While β(S) -haplotypes and alpha-thalassaemia modulate SCA clinical severity, their effects on blood rheology have been incompletely described. The aim of this study was to test the effects of these genetic modifiers on the haemorheological properties and clinical complication of children with SCA...
January 18, 2017: Pediatric Blood & Cancer
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