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https://www.readbyqxmd.com/read/28330551/-thalassaemia-and-pregnancy
#1
Viktoriya Luk'yanenko, Marjoes Droogh, Ulrik Malthe Overgaard
Global migration has resulted in a larger geographical spread of people with risk of hereditary anaemias. This leads to an increased incidence of pregnant women with rare diseases, including thalassaemia also in Scandinavia. Thalassaemia can cause severe anaemia and other complications during pregnancy, like risk of miscarriage, intrauterine fetal death, abruptio, intrauterine growth retardation, hypertension, gestational diabetes and pre-eclampsia. In this article, we focus on the aetiology, assessment, antenatal care and treatment of pregnant women with thalassaemia...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28328415/thalassaemia-in-obstetric-practice-multiple-choice-questions-for-vol-39
#2
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28320041/prevention-of-iron-overload-and-long-term-maintenance-of-normal-iron-stores-in-thalassaemia-major-patients-using-deferiprone-or-deferiprone-deferoxamine-combination
#3
Annita Kolnagou, Christina N Kontoghiorghe, George J Kontoghiorghes
Decrease in mortality and morbidity is observed in thalassaemia major patients with reduced iron load in comparison to heavy iron loaded patients. Effective and complete treatment of transfusional iron overload can be achieved by chelation protocols that can eliminate excess iron and maintain normal iron stores (NIS). The maintenance of NIS, i. e., serum ferritin (350 μg/L >), MRI T2* cardiac (>20 ms) and liver (>6.3 ms) relaxation time levels was monitored in 16 thalassaemia major patients (32-53 years, 12 splenectomized, 10 male, erythrocyte transfusions 120-323 ml/kg/year) for about 90 patient years...
March 20, 2017: Drug Research
https://www.readbyqxmd.com/read/28293406/%C3%AE-thalassemia-distribution-in-the-old-world-an-ancient-disease-seen-from-a-historical-standpoint
#4
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/28293401/alloimmunization-in-patients-with-sickle-cell-disease-and-thalassemia-experience-of-a-single-centre-in-oman
#5
Salam Alkindi, Saba AlMahrooqi, Sumaiya AlHinai, Ali AlMarhoobi, Saif Al-Hosni, Shahina Daar, Naglaa Fawaz, Anil Pathare
BACKGROUND: Blood transfusion is an integral part of the supportive care for patients with sickle cell disease (SCD) and thalassaemia. The hazard of red cell alloimmunization, however, is one of the main complications of this therapy. OBJECTIVES: The aim of this study was to evaluate the prevalence of red cell alloimmunization in Omani patients with sickle cell anaemia and thalassemia. METHODS: This study included 262 patients whose historical transfusion records were available...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28251585/voluntary-premarital-screening-to-prevent-sickle-cell-disease-in-jamaica-does-it-work
#6
G R Serjeant, B E Serjeant, K P Mason, F Gibson, R Gardner, L Warren, M Jonker
To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica. A total of 16,636 students complied, and counselling was offered to carriers of abnormal genes over 6 years (2008-2013)...
March 1, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28241813/anaemia-in-hospitalised-preschool-children-from-a-rural-area-in-mozambique-a-case-control-study-in-search-for-aetiological-agents
#7
Cinta Moraleda, Ruth Aguilar, Llorenç Quintó, Tacilta Nhampossa, Montserrat Renom, Augusto Nhabomba, Sozinho Acácio, John J Aponte, Delino Nhalungo, Ariel H Achtman, Louis Schofield, Helder Martins, Eusebio Macete, Pedro L Alonso, Clara Menéndez
BACKGROUND: Young children bear the world's highest prevalence of anaemia, the majority of which is of multifactorial aetiology, which in turn hampers its successful prevention. Even moderate degrees of anaemia are associated with increased mortality and morbidity. Despite this evidence, there is a lack of effective preventive programs and absence of consensus in the safety of iron supplementation in malaria areas, which reflects the poor understanding of the contribution of different aetiologies to anaemia...
February 28, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28220744/burden-genotype-and-phenotype-profiles-of-adult-patients-with-sickle-cell-disease-in-cape-town-south-africa
#8
G D Pule, K Mnica, M Joubert, S Mowla, N Novitsky, A Wonkam
BACKGROUND: An exponential increase in the number of sickle cell disease (SCD) patients in paediatric services in Cape Town, South Africa, has been reported. The trend in adult/adolescent services has not been investigated. OBJECTIVES: To evaluate epidemiological trends of SCD and the profile of patients affected by SCD attending the Haematology Clinic at Groote Schuur Hospital (GSH), Cape Town. METHODS: (i) A retrospective review of the number of SCD patients over the past 20 years; (ii) a cross-sectional analysis of clinical and haematological characteristics of SCD patients; and (iii) molecular analysis of the haemoglobin S mutation, the haplotype in the β-globin-like genes cluster, the 3...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28220719/protector-effect-of-%C3%AE-thalassaemia-on-cholecystitis-and-cholecystectomy-in-sickle-cell-disease
#9
Robéria M Pontes, Elaine S Costa, Patrícia F R Siqueira, Jussara F F Medeiros, Andréa Soares, Fabiana V de Mello, Maria C Maioli, Isaac L S Filho, Liliane R Alves, Marcelo G P Land, Marcos K Fleury
OBJECTIVES: Cholecystitis is one of the complications of symptomatic cholelithiasis responsible for high levels of morbidity of sickle cell disease (SCD) patients. Here, we investigated the possible protective role of single gene deletions of α-thalassaemia in the occurrence of cholelithiasis and cholecystitis in SCD patients, as well as the cholecystectomy requirements. METHODS: The α-globin genotype was determined in 83 SCD patients using the multiplex-polymerase chain reaction and compared with clinical events...
February 21, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28218017/molecular-and-clinical-analysis-of-haemoglobin-lepore-in-campania-a-region-of-southern-italy
#10
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
#11
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/28208125/mean-platelet-volume-in-heterozygous-beta-thalassaemia
#12
Mehmet Ali Cikrikcioglu, Kenan Celik, Iskender Ekinci, Muharrem Nasifov, Aybala Erek Toprak, Guven Cetin, Sema Genc
BACKGROUND/AIM: It is not known why cerebrovascular and cardiovascular ischaemic events are less frequently observed in heterozygous beta thalassaemia (HBT) patients than in the general population. However, we previously reported that serum levels of some platelet function markers, i.e. soluble CD40 ligand and soluble P-selectin, are lower in patients with HBT than in controls. A high mean platelet volume (MPV) is an indicator of in vivo platelet activation and may indicate a tendency to thrombosis...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28185828/the-role-of-molecular-typing-and-perfect-match-transfusion-in-sickle-cell-disease-and-thalassaemia-an-innovative-transfusion-strategy
#13
Rossana Putzulu, Nicola Piccirillo, Nicoletta Orlando, Giuseppina Massini, Maddalena Maresca, Fernando Scavone, Bianca Maria Ricerca, Gina Zini
Chronic red blood cell transfusions remain an essential part of supportive treatment in patients with thalassaemia and sickle cell disease (SCD). Red blood cell (RBC) transfusions expose patients to the risk of developing antibodies: RBC alloimmunization occurs when the immune system meets foreign antigens. We created a register of extensively genotyped donors to achieve a better matched transfusion in order to reduce transfusion alloimmunization. Extended RBC antigen typing was determined and confirmed by molecular biology techniques using Human Erythrocyte Antigen (HEA) BeadChip (BioArray Solutions Ltd...
January 23, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28185140/cost-utility-analysis-of-three-iron-chelators-used-in-monotherapy-for-the-treatment-of-chronic-iron-overload-in-%C3%AE-thalassaemia-major-patients-an-italian-perspective
#14
Alessia Pepe, Giuseppe Rossi, Anthony Bentley, Maria Caterina Putti, Ludovica Frizziero, Domenico Giuseppe D'Ascola, Liana Cuccia, Anna Spasiano, Aldo Filosa, Vincenzo Caruso, Aishah Hanif, Antonella Meloni
PURPOSE: Deferiprone (DFP), deferasirox (DFX) and deferoxamine (DFO) are used in thalassaemia major (TM) patients to treat chronic iron overload. We evaluated the cost-effectiveness of DFP, compared with DFX and DFO monotherapy, from an Italian healthcare system perspective. METHODS: A Markov model was used over a time horizon of 5 years. Italian-specific cost data were combined with Italian efficacy data. Costs and quality-adjusted life years (QALYs) were calculated for each treatment, with cost-effectiveness expressed as cost per QALY...
February 10, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28143837/haematological-and-electrophoretic-characterisation-of-%C3%AE-thalassaemia-in-yunnan-province-of-southwestern-china
#15
Jie Zhang, Jing He, Xiaoqin Mao, Xiaohong Zeng, Hong Chen, Jie Su, Baosheng Zhu
OBJECTIVES: β-Thalassaemia is widely found in Southwestern China. Characterisation of β-thalassaemia can improve screening and prenatal diagnosis for at-risk populations. DESIGN: A retrospective study. METHODS: In this study, the levels of haemoglobin alpha 2 (HbA2) and haemoglobin alpha (HbA) were analysed by gender for a total of 15 067 subjects screened by capillary electrophoresis. The cut-off value with the highest accuracy was established to identify β-thalassaemia in 723 patients suspected to have this disease...
January 31, 2017: BMJ Open
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#16
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/28101310/effectiveness-and-safety-of-sitagliptin-in-patients-with-beta-thalassaemia-major-and-diabetes-mellitus-a-case-series
#17
Shahrzad Zonoozi, Maria Barnard, Emma Prescott, Romilla Jones, Farrukh T Shah, Ploutarchos Tzoulis
Sitagliptin, a modern antidiabetic agent which is weight neutral and associated with low rate of hypoglycaemias, is being increasingly used in type 2 diabetes mellitus (DM). However, there is a paucity of data about its efficacy and safety in beta-thalassaemia major (β-TM). This retrospective case series of five patients (mean age of 45 years) is the first study evaluating the use of sitagliptin in patients with β-TM and DM. Four patients responded well to sitagliptin, as evidenced by a decrease in fructosamine by 77 and 96μmol/L (equivalent reduction in HbA1c of 1...
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
#18
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
https://www.readbyqxmd.com/read/28050380/coincidental-finding-of-beta-thalassaemia-minor-in-a-patient-of-lacquer-thinner-poisoning-presenting-as-methaemoglobinemia
#19
Charu Agarwal, Anisha Mohanpuria, Gurdeep Buxi, Vijay Kumar
Lacquer thinner, commonly used for removing household paints, is known to contain various aromatic hydrocarbons and naphtha; if ingested, may cause methaemoglobinemia. We report a case of 13-year-old girl who presented with episodes of vomiting, abdominal pain and numbness of limbs. Peripheral blood smear showed few fragmented erythrocytes and 10-12 nucleated red blood cells /100 white blood cells. Reticulocyte count was 15% with presence of Heinz bodies. There was a history of accidental ingestion of lacquer paint thinner...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28050370/an-unusual-case-of-septic-arthritis-of-the-hip
#20
Ujjwayini Ray, Soma Dutta, Arpita Sutradhar
Non-typhoidal Salmonella, particularly Salmonella enterica serovar typhimurium is food borne pathogen causing mild self-limiting diarrhoea in healthy adults. It can occasionally cause extraintestinal focal infection in susceptible patients. Salmonella, as the aetiological agent of osteomyelitis and septic arthritis is rare and has been mostly reported in patients with sickle cell disease or thalassaemia. We report a case of septic arthritis by Salmonellatyphimurium in an immunocompromised patient who was successfully treated following timely isolation and identification of the aetiological agent...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
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