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Beta Thalassemia

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https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#1
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/28502814/breathless-beta-thalassemia-major
#2
Vasiliki Katsi, Georgios Georgiopoulos, Georgia Vogiatzi, Dimitris Tousoulis
No abstract text is available yet for this article.
May 11, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28485683/cardiac-complications-in-beta-thalassemia-from-mice-to-men
#3
Sirinart Kumfu, Suthat Fucharoen, Siriporn C Chattipakorn, Nipon Chattipakorn
Beta-thalassemia is an inherited hemoglobin disorder caused by reduced or absent synthesis of the beta globin chains of hemoglobin. This results in variable outcomes ranging from clinically asymptomatic to severe anemia, which then typically requires regular blood transfusion. These regular blood transfusions can result in an iron overload condition. The iron overload condition can lead to iron accumulation in various organs, especially in the heart, leading to iron overload cardiomyopathy, which is the major cause of mortality in patients with thalassemia...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28483223/temporal-bone-extramedullary-hematopoiesis-as-a-causeof-pediatric-bilateral-conductive-hearing-loss-case-report-and-review-of-the-literature
#4
Alexander Lanigan, M Taylor Fordham
Extramedullary hematopoiesis occurs in children with hemoglobinopathy and chronic anemia. The liver and spleen are often affected first, but other foci can develop to support erythrocyte demand. We report a case of a nine-year-old with beta thalassemia and temporal bone extramedullary hematopoiesis causing ossicular fixation and bilateral conductive hearing loss. There is only one case in the literature describing this phenomenon in pediatric patients, and this is the first case report of bilateral hearing loss from this physiologic phenomenon...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28461877/thalassemia-review-features-dental-considerations-and-management
#5
REVIEW
Nawal Helmi, Mawahib Bashir, Ayesha Shireen, Iffat Mirza Ahmed
Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Individuals with thalassemia can get treatment according to the level of severity of their condition. The main oral manifestations of thalassemia are Class II malocclusion, maxillary protrusion, high caries index, severe gingivitis...
March 2017: Electronic Physician
https://www.readbyqxmd.com/read/28456904/myocardial-deformation-in-iron-overload-cardiomyopathy-speckle-tracking-imaging-in-a-beta-thalassemia-major-population
#6
Luca Antonio Felice Di Odoardo, Marianna Giuditta, Elena Cassinerio, Alberto Roghi, Patrizia Pedrotti, Marco Vicenzi, Veronica Maria Sciumbata, Maria Domenica Cappellini, Alberto Pierini
Traditional echocardiography is unable to detect neither the early stages of iron overload cardiomyopathy nor myocardial iron deposition. The aim of the study is to determine myocardial systolic strain indices in thalassemia major (TM), and assess their relationship with T2*, a cardiac magnetic resonance index of the severity of cardiac iron overload. 55 TM cases with recent cardiac magnetic resonance (CMR-T2*) underwent speckle tracking analysis to assess regional myocardial strains and rotation. The results were compared with a normal control group (n = 20), and were subsequently analyzed on the basis of the CMR-T2* values...
April 29, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28450766/coinheritance-of-b-thalassemia-and-sickle-cell-anaemia-in-southwestern-nigeria
#7
Osunkalu Vincent, Bamisaye Oluwaseyi, Babatunde James, Lawal Saidat
BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a severe disorder similar to homozygous sickle cell disease. MATERIALS AND METHODS: Haemoglobin A2 and HbF were determined in sickle cell anaemia patients attending LAUTECH Teaching Hospital, Osogbo, by elution after electrophoresis and alkaline denaturation methods respectively...
November 2016: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28447426/next-generation-sequencing-as-a-tool-for-breakpoint-analysis-in-rearrangements-of-the-globin-gene-clusters
#8
REVIEW
B E Clark, C Shooter, F Smith, D Brawand, S L Thein
INTRODUCTION: Next-generation sequencing (NGS), now embedded within genomic laboratories, is well suited to the detection of small sequence changes but is less well adapt for detecting structural variants (SV), mainly due to the relatively short sequence reads. Of the available target enrichment methods, bait capture or whole-genome sequencing appears better suited to detecting SV as there is less PCR amplification and is therefore more representative of the genome being sequenced. MATERIAL AND METHODS: In 2015, we described the first inversion/deletion causing εγδβ- thalassemia using an NGS approach, with base-pair resolution...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28428899/watershed-infarct-in-beta-thalassemia-major-patient
#9
Behnaz Ansari, Mohammad Saadatnia, Ali Asghar Okhovat
Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic left internal carotid occlusion, we assumed that severe anemia (hemoglobin = 3) at admission leads to watershed infarct...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28425083/restless-legs-syndrome-willis-ekbom-disease-prevalence-in-beta-thalassemia-patients
#10
Euthimia Dimitriadou, Christoforos D Giannaki, Maria Tsekoura, Ioannis Stefanidis, Georgios M Hadjigeorgiou, Eleftherios Lavdas, Christina Karatzaferi, Giorgos K Sakkas
PURPOSE: Both beta thalassemia and restless legs syndrome (RLS) patients share some common pathophysiological characteristics related to iron handling. In the present study, the aim was to explore the prevalence of RLS as well as to explore potential association between the syndrome and various quality of life-related parameters in a sample of beta thalassemia patients. METHODS: One hundred fourteen (age 40 ± 11 yr, 59 M/55F) beta thalassemia patients participated in this cross-sectional descriptive study...
April 19, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28401102/human-parvovirus-b19-in-patients-with-beta-thalassemia-major-from-tehran-iran
#11
Seyed Ali Mohammad Arabzadeh, Farideh Alizadeh, Ahmad Tavakoli, Hamidreza Mollaei, Farah Bokharaei-Salim, Gharib Karimi, Mohammad Farahmand, Helya Sadat Mortazavi, Seyed Hamidreza Monavari
BACKGROUND: Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. We investigated the prevalence of parvovirus B19 among patients with beta thalassemia major attending the Zafar Adult Thalassemia Clinic in Tehran, Iran. METHODS: This cross-sectional study was performed to determine the presence of parvovirus B19 DNA in blood samples and parvovirus B19 genotypes in plasma samples of patients with thalassemia major...
March 2017: Blood Research
https://www.readbyqxmd.com/read/28399542/presence-of-the-ivs-i-6-mutated-allele-in-beta-thalassemia-major-patients-correlates-with-extramedullary-hematopoiesis-incidence
#12
Nikolaos Sousos, Despoina Adamidou, Philippos Klonizakis, Alexandra Agapidou, Stamatia Theodoridou, Georgios Spanos, Kyriakos Psarras, Evaggelia Vetsiou, Timoleon-Achilleas Vyzantiadis, Efthymia Vlachaki
Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. The project was designed as a retrospective, nonexperimental, descriptive, exploratory study...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28372806/multiple-immune-disorders-after-natalizumab-discontinuation-after-the-ciris-the-siris
#13
E K Van Obberghen, M Cohen, F Rocher, C Lebrun-Frenay
Natalizumab (NTZ) is an effective treatment for patients with highly active relapsing remitting multiple sclerosis (MS). However, when the therapy must be interrupted, it is important to anticipate the withdrawal to avoid reactivation or disease rebound. Described here is the case of a 35-year-old woman, with a past history of beta thalassemia, bulimia and asthma, who was diagnosed with MS at age 26. She was treated initially with first-line subcutaneous (sc) immunomodulatory treatments. However, due to liver toxicity, interferon beta-1a sc was interrupted and replaced by glatiramer acetate treatment, which was well tolerated and used for several years...
March 31, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28367614/ophthalmic-evaluation-in-beta-thalassemia
#14
Rashid H Merchant, Hrishikesh Punde, Neepa Thacker, Deepak Bhatt
OBJECTIVES: To determine the association of ocular manifestations in beta-thalassemia with the patient's age, blood transfusion requirements, average serum ferritin and dose and duration of iron chelation therapy. METHODS: Sixty multi-transfused beta thalassemia patients of 12 to 18 y of age on chelation therapy were included in this cross-sectional analysis. Structural and functional evaluation of the retina was done using Optical coherence tomography (OCT) and Electroretinography (ERG), including flash ERG and Pattern ERG (PERG)...
April 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28367341/hereditary-xerocytosis-due-to-mutations-in-piezo1-gene-associated-with-heterozygous-pyruvate-kinase-deficiency-and-beta-thalassemia-trait-in-two-unrelated-families
#15
Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi
Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28348771/angioinvasive-mucormycosis-and-paradoxical-stroke-a-case-report
#16
Roxana Mititelu, Samuel Bourassa-Blanchette, Karan Sharma, Virginia Roth
INTRODUCTION: Rhizopus typically results in acute, aggressive and angioinvasive infection, particularly in immunosuppressed individuals. Risk factors include immunosuppression in haematologic malignancy, uncontrolled hyperglycemia, iron overload states, and older chelator agents such as deferoxamine. CASE PRESENTATION: We describe a case of a 33-year-old female with transfusion-dependent beta thalassemia who was started on intravenous deferiprone therapy and subsequently presented with a retropharyngeal abscess...
August 2016: JMM Case Reports
https://www.readbyqxmd.com/read/28343449/post-mortem-study-of-the-association-between-cardiac-iron-and-fibrosis-in-transfusion-dependent-anaemia
#17
Paul Kirk, Mary Sheppard, John-Paul Carpenter, Lisa Anderson, Taigang He, Tim St Pierre, Renzo Galanello, Gualtiero Catani, John Wood, Suthat Fucharoen, John B Porter, J Malcolm Walker, Gian Luca Forni, Dudley J Pennell
BACKGROUND: Heart failure related to cardiac siderosis remains a major cause of death in transfusion dependent anaemias. Replacement fibrosis has been reported as causative of heart failure in siderotic cardiomyopathy in historical reports, but these findings do not accord with the reversible nature of siderotic heart failure achievable with intensive iron chelation. METHODS: Ten whole human hearts (9 beta-thalassemia major, 1 sideroblastic anaemia) were examined for iron loading and fibrosis (replacement and interstitial)...
March 27, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28321531/bone-quality-in-beta-thalassemia-intermedia-relationships-with-bone-quantity-and-endocrine-and-hematologic-variables
#18
Marina Baldini, A Marcon, F M Ulivieri, S Seghezzi, R Cassin, C Messina, M D Cappellini, G Graziadei
We report the first evaluation of bone quality in 70 thalassemia intermedia (TI) patients (37 males, 33 females, age 41 ± 12 years). Thirty-three patients (47%) had been transfused, 34 (49%) had been splenectomized, 39 (56%) were on iron chelation therapy, and 11 (16%) were on hydroxyurea. Mean hemoglobin was 9.2 ± 1.5 g/dl, median ferritin 537 ng/dl (range 14-4893), and mean liver iron concentration 7.6 ± 6.4 mg Fe/g dw. Fifteen patients (21%) had endocrinopathies, and 29 (41%) had vitamin D deficiency...
March 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28316434/comparison-of-deferasirox-and-deferoxamine-effects-on-iron-overload-and-immunological-changes-in-patients-with-blood-transfusion-dependent-%C3%AE-thalassemia
#19
Hayder M Al-Kuraishy, Ali I Al-Gareeb
INTRODUCTION: Beta-thalassemias are a cluster of inherited (autosomal recessive) hematological disorders prevalent in the Mediterranean area due to defects in synthesis of β chains of hemoglobin. The aim of present study was to compare the effects of deferasirox and deferoxamine on iron overload and immunological changes in patients with blood transfusion-dependent β-thalassemia major and intermedia. PATIENTS AND METHODS: This study involved 64 patients with known cases of β-thalassemia major or intermedia that has been treated with blood transfusion and iron chelators...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28293408/impact-of-donor-specific-anti-hla-antibodies-and-donor-kir-characteristics-in-haploidentical-hsct-for-beta-thalassemia
#20
Marco Andreani, Manuela Testi, Pietro Sodani, Maria Troiano, Andrea Di Luzio, Giuseppe Testa, Michela Falco, Elvira Poggi, Javid Gaziev, Antonina Piazza
No abstract text is available yet for this article.
2017: Mediterranean Journal of Hematology and Infectious Diseases
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