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Beta Thalassemia

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https://www.readbyqxmd.com/read/29755902/efficacy-and-safety-of-wheat-grass-in-thalassemic-children-on-regular-blood-transfusion
#1
Amit S Mutha, Kalpana U Shah, Aarti A Kinikar, Balasaheb B Ghongane
BACKGROUND: In thalassemia, mutations either in alpha or beta chain synthesis results in low hemoglobin (Hb). Wheatgrass has been used for many years for health purposes. Some reports suggest the beneficial effect of wheatgrass on transfusion requirements. Folic acid is also known to play an important role in several biochemical reactions. In some patients with thalassemia, the supplementation of folic acid is useful. OBJECTIVE: To evaluate the efficacy and safety of wheatgrass in children with thalassemia receiving chronic blood transfusions...
March 11, 2018: Curēus
https://www.readbyqxmd.com/read/29755708/growth-and-endocrine-function-in-tunisian-thalassemia-major-patients
#2
Naouel Guirat Dhouib, Monia Ben Khaled, Monia Ouederni, Habib Besbes, Ridha Kouki, Fethi Mellouli, Mohamed Bejaoui
β-thalassemia major (β-TM) is among the most common hereditary disorders imposing high expenses on health-care system worldwide. The patient's survival is dependent on lifetime blood transfusion which leads to iron overload and its toxicity in various organs including endocrine glands. This article provides an overview of endocrine disorders in beta-TM patients. This single center investigation enrolled 28 β-TM patients (16 males, 12 females) regularly transfused with packed red cell since early years of life...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29737797/thalassemia-and-other-hemoglobinopathies-among-anemic-individuals-in-metro-manila-philippines-and-their-intake-of-iron-supplements
#3
Mario V Capanzana, Ma Angelina L Mirasol, Geoffry Smith, Imelda Angeles-Agdeppa, Leah Perlas, Francisco de Los Reyes, Maria Sofia Amarra
BACKGROUND AND OBJECTIVES: Iron deficiency is the most common cause of anemia worldwide. In Southeast Asia, studies showed that genetic hemoglobin disorders also contribute significantly to the burden of anemia. The study aimed to estimate the proportion of thalassemia and other hemoglobinopathies versus iron deficiency and other causes in a sample of anemic individuals; describe the characteristics of thalassemic subjects in terms of severity of anemia, adequacy of iron stores, and hematological profile; examine the intake of iron supplements among individuals with varying causes of anemia...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29730048/identifying-%C3%AE-thalassemia-carriers-using-a-data-mining-approach-the-case-of-the-gaza-strip-palestine
#4
Alaa S AlAgha, Hossam Faris, Bassam H Hammo, Ala' M Al-Zoubi
Thalassemia is considered one of the most common genetic blood disorders that has received excessive attention in the medical research fields worldwide. Under this context, one of the greatest challenges for healthcare professionals is to correctly differentiate normal individuals from asymptomatic thalassemia carriers. Usually, thalassemia diagnosis is based on certain measurable characteristic changes to blood cell counts and related indices. These characteristic changes can be derived easily when performing a complete blood count test (CBC) using a special fully automated blood analyzer or counter...
May 2, 2018: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/29729700/fc%C3%AE-receptor-iii-expression-and-morphological-maturity-on-neutrophil-are-associated-with-higher-iron-level-of-major-beta-thalassemia
#5
Mohammad Ghozali, Tiwi Harjanti Cakranita, Adi Imam Tjahjadi, Lelani Reniarti, Reni Ghrahani, Mraa Syamsunarno, Budi Setiabudiawan, Ramdan Panigoro
Lifetime blood transfusion experienced by major β-thalassemia patients complicated with iron overload, therefore, may lead to their tissue injury. Ultimately, free toxic iron may alter immune response via dysregulation of immune cell activity producing prolonged effector reaction. Neutrophil as one of the vital innate immune cell despite serves as the first line of defense resulting acute inflammation has a pivotal role in chronic inflammation while releasing the toxic substance that interferes biological processes...
April 30, 2018: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29726078/unrelated-and-related-donor-transplantation-for-beta-thalassemia-major-a-single-center-experience-from-india
#6
M Joseph John, Amrith Mathew, Chepsy C Philip, Sohan Singh, Tanuja Tanuja, Naveen Kakkar
Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment in patients with β-thalassemia major. A matched sibling or a related donor is usually found in only 25%-30% of the patients. There are limited data on matched unrelated donor (MUD) transplants from India. We reviewed HSCT outcome in 56 children with TM who underwent 57 transplants at our center. Related donor (RD) (n=43) and MUD (n=14) transplants were performed with TreoFluT-based conditioning regimen in majority (95%) of patients...
May 3, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29724825/deletion-of-ferroportin-in-murine-myeloid-cells-increases-iron-accumulation-and-stimulates-osteoclastogenesis-in-vitro-and-in-vivo
#7
Lei Wang, Bin Fang, Toshifumi Fujiwara, Kimberly Krager, Akshita Gorantla, Chaoyuan Li, Jian Q Feng, Michael L Jennings, Jian Zhou, Nukhet Aykin-Burns, Haibo Zhao
Osteoporosis, osteopenia, and pathological bone fractures are frequent complications of iron-overload conditions such as hereditary hemochromatosis, thalassemia, and sickle cell disease. Moreover, animal models of iron overload have revealed increased bone resorption and decreased bone formation. Although systemic iron overload affects multiple organs and tissues, leading to significant changes on bone modeling and remodeling, the cell autonomous effects of excessive iron on bone cells remain unknown. Here, to elucidate the role of cellular iron homeostasis in osteoclasts, we generated two mouse strains in which solute carrier family 40 member 1 (Slc40a1), a gene encoding ferroportin (FPN), the sole iron exporter in mammalian cells, were specifically deleted in myeloid osteoclast precursors or mature cells...
May 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29723861/better-renal-resistive-index-profile-in-subjects-with-beta-thalassemia-minor-br-br-br
#8
Fahrettin Basut, Şakir Özgür Keşkek, Bozkurt Gülek
OBJECTIVE: Beta thalassaemia minor is a common genetic disorder without any characteristic symptoms except mild anemia. It is found to be associated with some cardiovascular risk factors such as insulin resistance and diabetes mellitus. The renal resistive index (RRI) is a measure of renal arterial resistance to blood flow. The aim of this study was to evaluate the renal resistive index in subjects with beta thalassaemia minor (BTM). SUBJECTS AND METHODS: A total of 253 subjects were included in this cross-sectional study...
May 3, 2018: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29704633/myb-a-regulatory-factor-in-hematopoiesis
#9
REVIEW
Xunde Wang, Nikolaos Angelis, Swee Lay Thein
MYB is a transcription factor which was identified in birds as a viral oncogene (v-MYB). Its cellular counterpart was subsequently isolated as c-MYB which has three functional domains - DNA binding domain, transactivation domain and negative regulatory domain. c-MYB is essential for survival, and deletion of both alleles of the gene results in embryonic death. It is highly expressed in hematopoietic cells, thymus and neural tissue, and required for T and B lymphocyte development and erythroid maturation. Additionally, aberrant MYB expression has been found in numerous solid cancer cells and human leukemia...
April 25, 2018: Gene
https://www.readbyqxmd.com/read/29695942/genotype-phenotype-correlation-among-beta-thalassemia-and-beta-thalassemia-hbe-disease-in-thai-children-predictable-clinical-spectrum-using-genotypic-analysis
#10
Chanchai Traivaree, Chalinee Monsereenusorn, Piya Rujkijyanont, Warakorn Prasertsin, Boonchai Boonyawat
Introduction: Beta-thalassemia is a group of inherited hemolytic anemias and one of the most common genetic disorders in Thailand. The clinical spectrum of beta-thalassemia disease ranges from mild to severe clinical symptoms including mild beta-thalassemia intermedia (TI) and severe beta-thalassemia major (TM). Objective: This study aimed to determine the correlation between beta-globin gene ( HBB ) mutations and their phenotypic manifestations by evaluating patients' clinical characteristics, transfusion requirements, growth and hematologic parameters, and hemoglobin typing among pediatric patients treated at Phramongkutklao Hospital...
2018: Journal of Blood Medicine
https://www.readbyqxmd.com/read/29668553/glucose-homeostasis-markers-in-beta-thalassemia
#11
Sunil Gomber, Anjali Bagaria, Sri V Madhu, Pooja Dewan
BACKGROUND: Glycosylated hemoglobin (HbA1c) has been a well-recognized marker of glucose homeostasis among thalassemics. Recently some studies have proposed the role of fructosamine as a better marker as compared with HbA1c. Hence, the study was carried out to find out which marker holds promise among Indian beta-thalassemic children. METHODS: In this case-control study, 60 diagnosed cases of beta-thalassemia major and equal number of normal controls who were ≥8 years of age were enrolled...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29664655/short-term-assessment-of-hsct-effects-on-the-hypothalamus-pituitary-axis-in-pediatric-thalassemic-patients
#12
Amir Ali Hamidieh, Fariba Mohseni, Maryam Behfar, Zohreh Hamidi, Kamran Alimoghaddam, Mohamad Pajouhi, Bagher Larijani, Mohammad-Reza Mohajeri-Tehrani, Ardeshir Ghavamzadeh
BACKGROUND: Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. METHODS: In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards...
February 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29663494/phylogenetic-analysis-of-htlv-1-in-iranian-blood-donors-hiv-1-positive-patients-and-patients-with-beta-thalassemia
#13
Leila Pirayeshfard, Zohreh Sharifi, Sedigheh Amini-Kafiabad, Nasrin Haghnazari Sadaghiani
BACKGROUND: Human T-cell leukemia virus (HTLV) has been associated with various disease types. Since the discovery of the virus in 1980, seven subtypes of the virus have been identified. HTLV is widespread and endemic in some regions, such as Japan, Africa, South America, and northeast Iran. This study aimed to identify HTLV-1 genotype and also to analyze the nucleotide sequence of the LTR region in three groups, including blood donors, HIV-1+ patients, and β-thalassemia patients. MATERIALS AND METHODS: In this cross-sectional study, 2200 samples were collected from blood donors in Tehran (2000 samples), HIV-1+ patients (100 samples) and β-thalassemia patients (100 samples)...
April 16, 2018: Journal of Medical Virology
https://www.readbyqxmd.com/read/29649618/preimplantation-high-resolution-hla-sequencing-using-next-generation-sequencing
#14
Maryam Rafati, Mohammad Mahdi Akhondi, Mohammad Reza Sadeghi, Seyedeh Zahra Tara, Saeed Reza Ghaffari
Hematopoietic Stem Cell Transplantation (HSCT) is the only therapeutic option in a number of heritable hematologic disorders as well as hematologic cancers. Many parents and families fail to find an HLA-identical donor for their affected family member. In such cases, conceiving for a savior baby remains the only option especially in countries without access to national registries. By means of Next Generation Sequencing (NGS) techniques, in a single experiment on single cell products of IVF, a healthy HLA-identical embryo can be implanted in the uterus of a concerned mother...
April 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29629042/depression-anxiety-and-perceived-social-support-among-adults-with-beta-thalassemia-major-cross-sectional-study
#15
Aghbabak Maheri, Roya Sadeghi, Davoud Shojaeizadeh, Azar Tol, Mehdi Yaseri, Alireza Rohban
Background: Considering the high prevalence of depression and anxiety among thalassemia patients and the role of social support in preventing mental disorders, this study aimed to determine prevalence of depression, anxiety, and perceived social support (PSS) among adults with beta-thalassemia major. Methods: This cross-sectional study was performed with 389 adults with beta-thalassemia major. Data were collected via a questionnaire consisting of three parts: demographic and medical information, the Persian version of the hospital anxiety and depression scale, and the Persian version of the Multidimensional Scale of Perceived Social Support...
March 2018: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/29622873/clinico-hematological-profile-of-hb-q-india-an-uncommon-hemoglobin-variant
#16
Aradhana Harrison, Ranjeet Singh Mashon, Naveen Kakkar, Sheila Das
Inherited hemoglobin disorders include thalassemias and structural variants like HbS, HbE, and HbD, Hb Lepore, HbD-Iran, Hb-H disease and HbQ India. HbQ India is an uncommon alpha-chain structural hemoglobin variant seen in North and West India. Patients are mostly asymptomatic and often present in the heterozygous state or co-inherited with beta-thalassaemia. This study was done in a tertiary care teaching hospital in North India over a period of 7 years among patients referred from antenatal and other clinics for screening of hemoglobin disorders...
April 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29621931/contrasting-co-inheritance-of-alpha-and-beta-mutations-in-delta-beta-thalassemia-and-hereditary-persistence-of-fetal-hemoglobin-a-study-from-india
#17
Hareram Pandey, Ravi Ranjan, Kanwaljeet Singh, Amit Sharma, Kamal Kishor, Tulika Seth, Renu Saxena
BACKGROUND AND OBJECTIVES: Coinheritance of δβ thalassemia and HPFH with inherited factors is sparsely documented and may affect treatment modalities. So, we screened the presence of α deletion and β mutations in δβ thalassemia and HPFH disorders in 52 cases with high Hb F concentration. MATERIAL AND METHODS: Fifty-two individuals with raised HbF levels were study subjects. CZE was done for quantitative assessment of hemoglobin variants. Asian Indian inversion deletion break point type A, B and HPFH-3 were done by GAP-PCR...
April 5, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29619482/a-comprehensive-review-of-the-prevalence-of-beta-globin-gene-variations-and-the-co-inheritance-of-related-gene-variants-in-saudi-arabians-with-beta-thalassemia
#18
Mousa A Alaithan, Sayed AbdulAzeez, J Francis Borgio
Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. Saudi Arabia is among the countries most affected bybeta-thalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations. In Saudi Arabians, IVSI-5 (G greater than C) and Cd 39 (C greater than T) are the most prevalent HBB gene variations out of 42 variations...
April 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29614571/-clinical-analysis-of-three-cases-with-beta-thalassemia
#19
X Y Li, M J Liu, L H Xu, H G Xu, H L Chen, J P Fang
Objective: To study the diagnostic strategy of β-thalassemia through retrospective analysis of 3 cases of β-thalassemia. Methods: Three patients were admitted to the Department of Pediatrics, Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2014 to June 2015. The clinical manifestations, hemoglobin electrophoresis and gene detection of these patients and their parents were analyzed, diagnostic ideas and key points were discussed when beta thalassemia gene detection did not explain clinical manifestations or hemoglobin electrophoresis...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29607832/morphological-and-dimensional-characteristics-of-dental-arch-in-children-with-beta-thalassemia-major
#20
Disha Kumar, Anant Gopal Nigam, Nikhil Marwah, Puneet Goenka, Asmita Sharma
Background and Objectives: The aim of this study was to examine the arch dimensions of beta thalassemia major patients in comparison with normal individuals. Materials and Methods: Dental arch dimensions were compared between thalassemic patients and normal individuals in the age group of 12-16 years in the maxillary and mandibular arch corresponding to each other regarding age, sex and Angle's molar relationship. A total number of sixty cases in each group were taken...
January 2018: Journal of the Indian Society of Pedodontics and Preventive Dentistry
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