keyword
MENU ▼
Read by QxMD icon Read
search

Beta Thalassemia

keyword
https://www.readbyqxmd.com/read/29340122/a-cross-sectional-study-of-glycemic-status-and-zinc-level-in-patients-with-beta-thalassemia-major
#1
Mohammad Ali Mashhadi, Zahra Sepehri, Zahra Heidari, Mahmoud Ali Kaykhaei, Aliyeh Sargazi, Farhad Kohan, Hanieh Heidari
Background: Endocrinopathies and diabetes mellitus are prevalent in patients with beta-thalassemia major Recently some studies demonstrate a link between low levels of serum zinc level and higher prevalence of diabetes. The aim of this study was to evaluate the glucose tolerance in patients suffered from beta-thalassemia major and determine the association of Homeostasis Model Assessment (HOMA) parameters with zinc status among these patients. Materials andMethods: In this cross sectional study, clinical data of patients who were suffered from thalassemia major, aged≥10 years were collected...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29309842/diseases-and-their-clinical-heterogeneity-are-we-ignoring-the-snipers-and-micromanagers-an-illustration-using-beta-thalassemia-clinical-spectrum-and-fetal-hemoglobin-levels
#2
Sankha Subhra Das, Anik Mitra, Nishant Chakravorty
Diseases and pathological ailments are known to perplex clinicians and researchers with their varied clinical manifestations. Such variations are mostly attributed to the complex interplays between numerous molecular players and their modifiers. This complexity in turn baffles scientists further to tweak multiple players together when attempting to identify definitive therapeutic interventions. In this pursuit, researchers often tend to ignore one of the commonest known genetic variations - single nucleotide polymorphisms (SNPs) in non-coding genetic regions...
January 5, 2018: Genomics
https://www.readbyqxmd.com/read/29307336/mutation-spectrum-of-%C3%AE-globin-gene-in-thalassemia-patients-at-hasan-sadikin-hospital-west-java-indonesia
#3
Ani Melani Maskoen, Nurul S Rahayu, Lelani Reniarti, Susi Susanah, Bremmy Laksono, Prima Nanda Fauziah, Almira Zada, Dadang S Hidayat
Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java...
December 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29299089/hamartoma-of-the-spleen-splenoma-with-calcifications-in-a-child-with-beta-thalassemia-a-case-report
#4
Dario Giambelluca, Dario Picone, Giuseppe Lo Re, Salvatore Pappalardo, Placido Romeo
Splenic hamartoma (or splenoma) is a rare, benign, vascular tumor, often incidentally found at imaging, surgery or autopsy. Albeit usually asymptomatic and rare in children, when it occurs in the pediatric population it is more commonly symptomatic. We report a case of a 15-year-old girl with iron-deficiency anemia and beta-thalassemia, who had a large (10 × 8 × 7 cm) splenic lesion with calcifications, incidentally found during follow-up for splenomegaly and histologically characterized as hamartoma with calcified areas...
May 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29295702/high-resolution-melting-curve-analysis-targeting-the-hbb-gene-mutational-hot-spot-offers-a-reliable-screening-approach-for-all-common-as-well-as-most-of-the-rare-beta-globin-gene-mutations-in-bangladesh
#5
Md Tarikul Islam, Suprovath Kumar Sarkar, Nusrat Sultana, Mst Noorjahan Begum, Golam Sarower Bhuyan, Shezote Talukder, A K M Muraduzzaman, Md Alauddin, Mohammad Sazzadul Islam, Pritha Promita Biswas, Aparna Biswas, Syeda Kashfi Qadri, Tahmina Shirin, Bilquis Banu, Salma Sadya, Manzoor Hussain, Golam Sarwardi, Waqar Ahmed Khan, Mohammad Abdul Mannan, Hossain Uddin Shekhar, Emran Kabir Chowdhury, Abu Ashfaqur Sajib, Sharif Akhteruzzaman, Syed Saleheen Qadri, Firdausi Qadri, Kaiissar Mannoor
BACKGROUND: Bangladesh lies in the global thalassemia belt, which has a defined mutational hot-spot in the beta-globin gene. The high carrier frequencies of beta-thalassemia trait and hemoglobin E-trait in Bangladesh necessitate a reliable DNA-based carrier screening approach that could supplement the use of hematological and electrophoretic indices to overcome the barriers of carrier screening. With this view in mind, the study aimed to establish a high resolution melting (HRM) curve-based rapid and reliable mutation screening method targeting the mutational hot-spot of South Asian and Southeast Asian countries that encompasses exon-1 (c...
January 2, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29291192/trends-in-5-10-20-and-30-year-survival-rates-of-beta-thalassemia-patients-in-southern-iran-1995-2016-a-retrospective-cohort-study
#6
Jafar Hassanzadeh, Alireza Mirahmadizadeh, Mehran Karimi, Yousef Veisani, Shahab Rezaeian
Background: There is currently lack of knowledge about survival trend analysis of thalassemia patients. Therefore, the aim of the present study was to assess 5-, 10-, 20-, and 30-year survival of thalassemia patients over a 20-year time period. Methods: In this retrospective cohort study, we analysed the data of 982 beta-thalassemia patients in Iran. Birth cohort and traditional cohort analyses were used to obtain the 5-, 10-, 20-, and 30-year survival rates in various time intervals between 1995 and 2016. Results: Five and 10-year survival rates remained unchanged since 1995-2016...
December 13, 2017: Journal of Public Health Research
https://www.readbyqxmd.com/read/29240028/genotype-phenotype-correlation-of-%C3%AE-thalassemia-in-croatian-patients-a-specific-hbb-gene-mutations
#7
Jerko Vucak, Daniel Turudic, Danko Milosevic, Marko Bilic, Zrinko Salek, Martina Rincic, Ernest Bilic
An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and oncology of the University Hospital Centre, Zagreb, Croatia. HBB gene mutations were determined using a gene-specific Q5 High-Fidelity PCR analysis with direct DNA sequencing of amplified transcripts. Mahidol score index used for classification of thalassemia severity was found to be low for all the patients enrolled in the study, indicating a mild β-thalassemia phenotype with no signs of disease progression...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29235740/thalassemia-major-and-intermedia-in-patients-older-than-35-years-a-single-center-experience
#8
Liat Shargian-Alon, Oren Pasvolsky, Pia Raanani
BACKGROUND: During the past decades, beta thalassemia major (TM) and beta thalassemia intermedia (TI) have transformed from a universally fatal disease at a young age into a chronic disease. This advancement is attributed to improved chelation therapy as well as enhanced management strategies, with focused attention on disease and treatment-related complications. OBJECTIVES: To describe characteristics of adults with thalassemia as well as treatment modalities, disease and treatment-related complications, and socioeconomic information of the patients...
December 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29202846/haplotypes-inside-the-beta-globin-gene-use-as-new-biomarkers-for-beta-thalassemia-prenatal-diagnosis-in-north-of-iran
#9
Mohammad Bagher Hashemi-Soteh, Seyed Saeed Mousavi, Alireza Tafazoli
BACKGROUND: Beta-thalassemia is common in the Mediterranean area as well as the Middle East and India. Official report in Iran revealed the average prevalence rate of carriers about 4%. More than 20 restriction fragment length polymorphisms (RFLPs) are known in the beta-globin gene cluster and used in the prenatal diagnosis (PND) services. Some of these locations may have low allele frequency and are not informative in the prenatal diagnosis. The current study aims to find new haplotypes and polymorphisms with high allele frequency in the local population...
December 4, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29199112/-management-of-patients-with-major-beta-thalassemia-in-a-paediatric-department-in-the-south-of-tunisia-about-26-cases
#10
I Maaloul, O Laaroussi, I Jedidi, L Sfaihi, S Kmiha, T Kamoun, H Aloulou, M Hachicha
AIM: Our objectives were to assess the management of patients with major thalassemia and identify the various complications and monitoring means. PATIENTS AND METHODS: A retrospective study was conducted on 26 β-thalassemic patients in the department of paediatrics, Hédi Chaker hospital, Sfax, Tunisia during a period of 25 years (from 1 January 1990 to 31 December 2014). RESULTS: The mean age of the beginning of transfusion was 11.5 months...
November 30, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/29195008/consensus-predictive-model-for-the-prediction-of-human-k562-cell-growth-inhibition-through-enalos-cloud-platform
#11
Antreas Afantitis, Georgios Leonis, Roberto Gambari, Georgia Melagraki
Beta thalassemia is an inherited hematologic disorder caused by various mutations of the β-globin gene, thus resulting in a significant decrease of adult hemoglobin (HbA) production. Since no other specific treatment exists to date, apart from blood transfusion and chelation therapy, the increase of fetal hemoglobin (HbF) levels by drug molecules is considered of great potential in β-thalassemia treatment, being expected to counterbalance the impaired production of HbA. Within this context, we have worked towards the development of a predictive model that will allow the identification of new possible HbF inducers...
December 1, 2017: ChemMedChem
https://www.readbyqxmd.com/read/29190176/correlation-of-serum-ferritin-levels-with-hepatic-mri-t2-and-liver-iron-concentration-in-nontransfusion-beta-thalassemia-intermediate-patients-a-contemporary-issue
#12
Mehran Karimi, Fatemeh Amirmoezi, Sezaneh Haghpanah, Seyedpouria Ostad, Mehrzad Lotfi, Sepideh Sefidbakht, Shahed Rezaian
BACKGROUND: Beta-thalassemia intermediate is a genetic disease that is milder than beta-thalassemia major. The T2* magnetic resonance imaging (MRI) technique is currently the gold standard for iron load detection. However, it is expensive and needs an expert radiologist to report findings. Therefore, we conducted this study to determine an optimal cut-off value of ferritin in proportion to T2 MRI of liver and measurement of liver iron concentration for early detection of hepatic iron overload in Beta-thalassemia intermediate patients...
November 30, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29166371/effect-of-iron-overload-on-impaired-fertility-in-male-patients-with-transfusion-dependent-beta-thalassemia
#13
Mei-Jou Chen, StevenShinn-Forng Peng, Meng-Yao Lu, Yung-Li Yang, Shiann-Tarng Jou, Hsiu-Hao Chang, Shee-Uan Chen, Dong-Tsamn Lin, Kai-Hsin Lin
BACKGROUND: To investigate the fertility of male patients with transfusion-dependent beta-thalassemia, and use MRI as a novel method to assess the iron overload status of testis in such patients. METHODS: Twenty-one male patients with transfusion-dependent beta-thalassemia and 5 normal male controls enrolled in this study. Hormonal profiles, iron levels, MRI testicular dimension, MRI T2 values, parameters for sperm quality, sperm DNA fragmentation (SDF) of participants were measured...
November 22, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29165026/comparative-evaluation-of-oral-and-dento-maxillofacial-manifestation-of-patients-with-sickle-cell-diseases-and-beta-thalassemia-major
#14
Salmeh Kalbassi, Mohammad Reza Younesi, Vahid Asgary
BACKGROUND: Regarding the importance of oral and dental health in patients with hemoglobinopathies and also due to the different results of different studies in this background, in patients with beta thalassemia (BTM) and sickle cell disease (SCD), this study aimed to evaluate and compare the oral and dental manifestations of patients with BTM and SCD. MATERIAL AND METHODS: In this cross-sectional study during the years 2014-2017, a total of 175 patients (with documented BTM or SCD attending to Tehran, Mashhad, Isfahan, and Tabriz cities central hospitals) were randomly recruited...
November 22, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29164808/a-universal-approach-to-correct-various-hbb-gene-mutations-in-human-stem-cells-for-gene-therapy-of-beta-thalassemia-and-sickle-cell-disease
#15
Liuhong Cai, Hao Bai, Vasiliki Mahairaki, Yongxing Gao, Chaoxia He, Yanfei Wen, You-Chuan Jin, You Wang, Rachel L Pan, Armaan Qasba, Zhaohui Ye, Linzhao Cheng
Beta-thalassemia is one of the most common recessive genetic diseases, caused by mutations in the HBB gene. Over 200 different types of mutations in the HBB gene containing three exons have been identified in patients with β-thalassemia (β-thal) whereas a homozygous mutation in exon 1 causes sickle cell disease (SCD). Novel therapeutic strategies to permanently correct the HBB mutation in stem cells that are able to expand and differentiate into erythrocytes producing corrected HBB proteins are highly desirable...
November 21, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29157161/modulation-of-hepcidin-expression-by-normal-control-and-beta0-thalassemia-hb-e-erythroblasts
#16
Janejira Jaratsittisin, Wannapa Sornjai, Saovaros Svasti, Suthat Fucharoen, Sittiruk Roytrakul, Duncan R Smith
OBJECTIVES: The inherited genetic disorder beta0-thalassemia/Hb E disease is associated with the over-suppression of the master regulator of iron homeostasis, the peptide hormone hepcidin. How developing erythroid cells mediate the suppression of hepcidin remains controversial, although a number of inhibitors have been proposed. METHODS: To investigate the ability of erythroid cells to suppress hepcidin expression in liver cells, conditioned media from the culture of in vitro differentiating erythroblasts (from normal controls and beta0-thalassemia/Hb E patients) was used to treat HepG2 cells, and the effects on hepcidin expression were assayed by real-time quantitative PCR and confocal microscopy...
November 21, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29157136/blood-transfusion-versus-hydroxyurea-in-beta-thalassemia-in-iran-a-cost-effectiveness-study
#17
Ramin Ravangard, Zahra Mirzaei, Khosro Keshavarz, Sezaneh Haghpanah, Mehran Karimi
INTRODUCTION: Thalassemia intermedia is a type of anemia which has several treatments modalities. We aimed to study the cost effectiveness of two treatments, including blood transfusion and hydroxyurea, in patients with beta-thalassemia intermedia in south of Iran referred to a referral center affiliated to Iran, Shiraz University of Medical Sciences in 2015. MATERIALS AND METHODS: This was a cost-effectiveness study which was conducted on 122 patients with beta-thalassemia intermedia...
November 21, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29149573/the-intrinsic-genetic-and-epigenetic-regulator-factors-as-therapeutic-targets-and-the-effect-on-fetal-globin-gene-expression
#18
Pegah Adelvand, Mohammed Hamid, Soroush Sardari
Introduction The effort to induce fetal globin or Hb F gene expression as an alternative therapy for blood transfusion has been ongoing for few decades, with promising results evident in patients with hemoglobinopathies. Although the clinical outcomes have been satisfactory and significant, there are still concerns about the safety of Hb F inducers in the long-term. There are potent inducers which lose their potency and safety over the course of therapy. Area Covered: In this work, efforts have been made to review the latest findings on intrinsic genetic and epigenetic factors which are able to induce the gene expression of fetal globin in adult patients with beta (β)-thalassemia Major, Intermedia and sickle cell disease (SCD)...
November 17, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29142764/determining-nt-probnp-levels-with-diastolic-dysfunction-in-thalassemia-major-patients
#19
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142547/an-evaluation-of-thyroid-autoimmunity-in-patients-with-beta-thalassemia-minor-a-case-control-study
#20
Ali Ramazan Benli, Sati Sena Yildiz, Mehmet Ali Cikrikcioglu
Objective: The tendency to autoimmune diseases has been reported to be increased in beta thalassemia minor (BTM). The aim of this study was to evaluate whether thyroid autoimmunity is higher in BTM. Methods: Patients with BTM (n=86) and a healthy control group (n=93) were included in this cross-sectional case-control study. The two groups were compared in terms of anti-thyroglobulin (anti-TG) and anti-thyroid peroxidase (anti-TPO) and thyroid hormones. Results: In the BTM group, thyroid hormones and serum anti-TG and anti-TPO antibody levels were not statistically different from those of the control group...
September 2017: Pakistan Journal of Medical Sciences Quarterly
keyword
keyword
30021
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"