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Beta Thalassemia

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https://www.readbyqxmd.com/read/28732253/diminished-ovarian-reserve-in-women-with-transfusion-dependent-beta-thalassemia-major-is-iron-gonadotoxic
#1
Aysel Uysal, Gül Alkan, Ayşegül Kurtoğlu, Onur Erol, Erdal Kurtoğlu
OBJECTIVE: Iron accumulation in the endocrine glands has been implicated in the aetiopathogenesis of decreased reproductive capacity in patients with beta-thalassemia major (β-TM). The aim of the current study was to investigate the serum concentration of anti-Müllerian hormone (AMH), a marker of ovarian reserve, in women with transfusion-dependent β-TM. STUDY DESIGN: In this case-control study, we recruited 43 women with transfusion-dependent TM and 44 age-matched healthy controls...
July 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28721064/lived-experiences-of-iranian-parents-of-beta-thalassemia-children
#2
Aziz Shahraki-Vahed, Mohammadreza Firouzkouhi, Abdolghani Abdollahimohammad, Jamile Ghalgaie
INTRODUCTION: Thalassemia is a chronic blood disease, which imposes adverse effects on patients and their families. Parents of such patients, given that they had the thalassemia trait, hold themselves responsible for their children's disease in addition to other difficulties, bear the burden of guilt and hopelessness and worry about the health and future of their children. This study aimed to explore the lived experiences of parents of children with thalassemia. METHODS: The present research was conducted using a descriptive phenomenological approach...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28713591/the-effect-of-partnership-care-model-on-mental-health-of-patients-with-thalassemia-major
#3
Afzal Shamsi, Fardin Amiri, Abbas Ebadi, Musab Ghaderi
BACKGROUND: Thalassemia major has become a public health problem worldwide, particularly in developing and poor countries, while the role of educating the family and community has not been considered enough in patients' care. OBJECTIVES: This study examines the impact of partnership care model on mental health of patients with beta-thalassemia major. MATERIALS AND METHODS: This experimental study, with pretest and posttest design, was performed on patients with beta-thalassemia major in Jiroft city...
2017: Depression Research and Treatment
https://www.readbyqxmd.com/read/28706390/the-role-of-discriminant-functions-in-screening-beta-thalassemia-trait-and-iron-deficiency-anemia-among-laboratory-samples
#4
Ashwani Kumar, Debarshi Saha, Jyoti Kini, Nirupama Murali, Shrijeet Chakraborti, Deepa Adiga
INTRODUCTION: Most important differential diagnosis for microcytosis and hypochromia is beta thalassemia trait (BTT) and iron deficiency anemia. AIM: To study the utility of discriminant functions (DFs) and red cell indices in distinguishing BTT and iron deficiency anemia. METHODS: The study is observational (cross sectional). A total of 350 patients, 43 BTT, and 307 iron-deficiency anemia reflecting actual disease prevalence were included...
July 2017: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/28687959/stem-cell-therapy-for-fanconi-anemia
#5
Qing-Shuo Zhang
Stem cell therapy is the administration of stem cells to a patient to treat or prevent a disease. Since stem cells possess the long-term self-renewal capacity and provide daughter cells that differentiate into the specialized cells of each tissue, stem cell therapy will theoretically improve the disease condition for the lifetime of the patient. As the most widely used stem cell therapy, bone marrow transplantation is the treatment of choice for many kinds of blood disorders, including anemias, leukemias, lymphomas, and rare immunodeficiency diseases...
July 8, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28683515/profile-of-reproductive-issues-associated-with-different-sickle-cell-disease-genotypes
#6
Flávia Anchielle Carvalho, Ariani Impieri Souza, Ana Laura Carneiro Gomes Ferreira, Simone da Silva Neto, Ana Carolina Pessoa de Lima Oliveira, Maria Luiza Rodrigues Pinheiro Gomes, Manuela Freire Hazin Costa
Purpose To describe the reproductive variables associated with different sickle cell disease (SCD) genotypes and the influence of contraceptive methods on acute painful episodes among the women with the homozygous hemoglobin S (HbSS) genotype. Methods A cross-sectional study was conducted between September of 2015 and April of 2016 on 158 women afflicted with SCD admitted to a hematology center in the Northeast of Brazil. The reproduction-associated variables of different SCD genotypes were assessed using the analysis of variance (ANOVA) test to compare means, and the Kruskal-Wallis test to compare medians...
July 6, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28680605/thalassemia-intermedia-phenotype-resulting-from-rare-combination-of-c-46delt-codon15-t-mutation-of-beta-globin-gene-and-hpfh3
#7
Anjali J Kelkar, Anu Moses
The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype-phenotype correlation will provide a better insight for the development of molecular therapy.
July 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28675649/reticulocyte-count-and-extended-reticulocyte-parameters-by-mindray-bc-6800-reference-intervals-and-comparison-with-sysmex-xe-5000
#8
M Buttarello, A Rauli, G Mezzapelle
INTRODUCTION: In this study, analytic performance (imprecision, carryover, time stability) and diagnostic efficiency of Mindray BC-6800 analyzer to quantify reticulocytes and extended reticulocyte parameters was evaluated. Moreover, reference intervals on adult population were determined. Results were compared with those obtained by Sysmex XE-5000 analyzer. METHODS: One hundred and eighty-four healthy adults of both sexes, and 368 subjects affected by various pathologic conditions (nutritional anemias before and after treatment, hemolytic and posthemorragic anemias, acute and chronic inflammations, malignancy under therapy, and beta thalassemia trait) were selected...
July 4, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28670684/apolipoprotein-e-polymorphism-and-left-ventricular-failure-in-beta-thalassemia-a-multivariate-meta-analysis
#9
Niki L Dimou, Katerina G Pantavou, Pantelis G Bagos
Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results of independent studies examining the effect of ApoE on LVF development in thalassemic patients through a meta-analytic approach. However, all studies report more than one outcome, as patients are classified into three groups according to the severity of the symptoms and the genetic polymorphism...
July 2, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28621205/neurocognitive-dysfunction-in-children-with-%C3%AE-thalassemia-major-psychometric-neurophysiologic-and-radiologic-evaluation
#10
M S Elalfy, R H Aly, H Azzam, K Aboelftouh, R H Shatla, M Tarif, M Abdatty, R M Elsayed
OBJECTIVE: To evaluate the impact of iron chelating drugs and serum ferritin on the neurocognitive functions of patients with β thalassemia major (β-TM), using psychometric, neurophysiologic and radiologic tests. METHODS: Eighty children with β-TM were enrolled into the study and were compared to 40 healthy controls. All participants were evaluated by measuring serum ferritin, neurocognitive assessment by Benton Visual Retention Test, Wechsler Intelligence Scale for Children, Wisconsin Card Sort Test, P300 and magnetic resonance spectroscopy (MRS)...
June 16, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28618753/development-of-a-new-real-time-pcr-screening-kit-for-hbs-and-common-beta-thalassemia-mutations-observed-in-turkey
#11
Derya Kan Karaer, Mehmet Ali Ergün, Hatice Ilgın Ruhi, Jale Öztürk, Halil Kara, Deniz Reisoğlu Çakmak, Talihanur Aydoğmuş, Emriye Ferda Perçin
BACKGROUND/AIM: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. MATERIALS AND METHODS: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations...
June 12, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28615064/anti-toxoplasma-gondii-antibodies-in-patients-with-beta-hemoglobinopathies-the-first-report-in-the-americas
#12
Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos
BACKGROUND: In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies. METHODS: A total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia)...
June 14, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28603845/three-novel-hbb-mutations-c-140c-g-90-c-g-c-237_256delggacaacctcaagggcacct-fs-cd-78-85-20%C3%A2-bp-and-c-315-2t-g-ivs2-2-t-g-update-of-the-mutational-spectrum-of-%C3%AE-thalassemia-in-mexican-mestizo-patients
#13
L C Rizo-de-la-Torre, B Ibarra, J Y Sánchez-López, M T Magaña-Torres, V M Rentería-López, F J Perea-Díaz
INTRODUCTION: Beta-thalassemia (β-thal) is frequent in Mexican patients with microcytosis and hypochromia. We report three novel mutations and analyze the actual mutational spectrum in Mexican population. METHODS: One hundred and forty-nine β-thal Mexican mestizo patients were studied (154 alleles). ARMS-PCR was performed to identify Cd39C>T, IVS1:1G>A, IVS1:110G>A, -28A>C, initiation codonA>G and IVS1:5G>A mutations, and gap-PCR for δβ-thal Spanish type...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28600663/serum-hepcidin-as-a-diagnostic-marker-of-severe-iron-overload-in-beta-thalassemia-major
#14
Ahmed Maher Kaddah, Amina Abdel-Salam, Marwa Salah Farhan, Reham Ragab
OBJECTIVES: To investigate potential usefulness of serum hepcidin in the diagnosis of iron overload in children with β-thalassemia. METHODS: A study was conducted on 30 thalassemia major (TM), 30 thalassemia intermedia (TI) and 60 healthy children as controls. Serum hepcidin was measured by Human Hepcidin, ELISA Kit. RESULTS: β-thalassemia patients had a higher serum hepcidin compared to the controls (p < 0.001). TM group had higher hepcidin and ferritin compared to the TI group (p = 0...
June 10, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28598129/-genotype-of-thalassemia-in-han-chinese-and-tibetans-in-sichuan-province-china
#15
Qian Niu, Xun-Bei Huang, Yun-Fei An, Jun Wang, Hong Jiang
OBJECTIVES: To investigate the carrying rates and genotype distribution of thalassemia gene in Han people and Tibetans in Sichuan district. METHODS: A total of 1 147 Han adults and 613 adult Tibetans were included in this study.Hematological parameters were measured with Sysmex XE-2100 automatic blood cell analyzer.Alpha thalassemia and beta thalassemia gene analyses were further performed on samples with a mean corpuscular volume (MCV) <85 fL and a mean corpuscular hemoglobin (MCH) <27 pg...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28589785/revisiting-beta-thalassemia-intermedia-past-present-and-future-prospects
#16
Naouel Ben Salah, Rayan Bou-Fakhredin, Fethi Mellouli, Ali T Taher
BACKGROUND: The spectrum of thalassemias is wide ranging from thalassemia minor, which consists of mild hypochromic microcytic anemia without obvious clinical manifestations, to thalassemia major (TM), which is characterized by severe anemia since the first years of life and is transfusion dependent. Thalassemia intermedia (TI) describes those patients with mild or moderate anemia. OBJECTIVE: To describe the genetic features and major clinical complications of TI, and the therapeutic approaches available in the management of this disease...
June 7, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28577647/foxo3-gene-expression-and-oxidative-status-in-beta-thalassemia-minor-subjects
#17
Sandra Stella Lazarte, María Eugenia Mónaco, Magdalena María Terán, Ana Cecilia Haro, Miryam Emilse Ledesma Achem, Blanca Alicia Issé
BACKGROUND: Oxidative stress may aggravate symptoms of hemolytic anemias such as beta-thalassemia. FoxO3 activation results in resistance to oxidative stress in fibroblasts and neuronal cell cultures. OBJECTIVE: The purpose of this research was to study FoxO3 gene expression and oxidative status in beta-thalassemia minor individuals. METHODS: Sixty-three subjects (42 apparently healthy individuals and 21 with beta-thalassemia minor) were analyzed at the Universidad Nacional de Tucumán, Argentina, between September 2013 and June 2014...
April 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28566824/use-of-strain-strain-rate-tissue-velocity-imaging-and-endothelial-function-for-early-detection-of-cardiovascular-involvement-in-patients-with-beta-thalassemia
#18
Abhinav Gupta, Aditya Kapoor, Shubha Phadke, Archana Sinha, Shridhar Kashyap, Roopali Khanna, Sudeep Kumar, Naveen Garg, Satyendra Tewari, Pravin Goel
BACKGROUND: Global ventricular function often remains normal in patients with beta-thalassemia major (β-TM) until late. Tissue Doppler and strain imaging may be useful to assess regional myocardial function abnormalities in these patients. METHODS: Systolic (Sm), early diastolic (Em), and late diastolic (Am) (Em/Am) myocardial velocities at basal lateral and septal left ventricular (LV) segments, strain (S), and strain rate (SR) in basal and mid LV, right ventricular (RV) and septum were measured in 30 patients (β-TM, 12...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28537755/a-pilot-study-of-noninvasive-prenatal-diagnosis-of-alpha-and-beta-thalassemia-with-target-capture-sequencing-of-cell-free-fetal-dna-in-maternal-blood
#19
Wenjuan Wang, Yuan Yuan, Haiqing Zheng, Yaoshen Wang, Dan Zeng, Yihua Yang, Xin Yi, Yang Xia, Chunjiang Zhu
AIMS: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks...
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#20
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
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