14,237 results match your criteria Thalassemia Beta


The Cutoff of Ferritin for Evaluation of Hypothyroidism in Patients With Thalassemia.

J Pediatr Hematol Oncol 2019 Apr 18. Epub 2019 Apr 18.

Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.

Background: Thalassemia major is a genetic disease with a recessive autosomal pattern of inheritance that occurs as a result of disorder in hemoglobin synthesis. Researchers aimed to investigate the cutoff of ferritin for the development of hypothyroidism in patients with thalassemia major.

Materials And Methods: This was a retrospective analytic cross-sectional study that was conducted on the medical records of patients with thalassemia major. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001489DOI Listing

Disruption of the MBD2-NuRD complex but not MBD3-NuRD induces high level HbF expression in human erythroid cells.

Haematologica 2019 Apr 19. Epub 2019 Apr 19.

Massey Cancer Center, Virginia Commonwealth University, Richmond, USA;

As high fetal hemoglobin levels ameliorate the underlying pathophysiologic defects in sickle cell anemia and β-thalassemia, understanding the mechanisms that enforce silencing of fetal hemoglobin postnatally offers the promise of effective molecular therapy. Depletion of the Nucleosome Remodeling and Deacetylase complex member MBD2 causes a 10-20 fold increase in γ-globin gene expression in adult β-globin locus yeast artificial chromosome transgenic mice. To determine the effect of MBD2 depletion in human erythroid cells, genome editing technology was utilized to knockout MBD2 in Human Umbilical cord Derived Erythroid Progenitor-2 cells resulting in γ/γ+β mRNA levels of ~50% and ~40% fetal hemoglobin by high performance liquid chromatography. Read More

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http://dx.doi.org/10.3324/haematol.2018.210963DOI Listing

CARDIAC INVOLVEMENT IN Beta-THALASSAEMIA: Current treatment strategies.

Postgrad Med 2019 Apr 19. Epub 2019 Apr 19.

e Department of Medicine , Sultan Qaboos University Hospital , Muscat , Oman.

Despite the advances in the management of thalassaemia major, heart disease remains the leading cause of mortality in patients afflicted with this disorder. Cardiac involvement in thalassaemia encompasses a spectrum of disorders including myocardial dysfunction, arrhythmias, pulmonary hypertension and peripheral vascular disease. Although cardiac siderosis (accumulation of iron in cardiac myocytes) as a consequence of repeated blood transfusions is deemed to be the main aetiologic factor for myocardial dysfunction in transfusion dependent patients, the significance of other pathophysiologic mechanisms is being increasingly recognized especially in non-transfusion dependent patients. Read More

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https://www.tandfonline.com/doi/full/10.1080/00325481.2019.1
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http://dx.doi.org/10.1080/00325481.2019.1608071DOI Listing
April 2019
1 Read

Epidemiological, clinico-biological, therapeutic and evolutionary aspects of β-thalassemia in Morocco.

Ann Biol Clin (Paris) 2019 Apr;77(2):169-173

Laboratoire d'hématologie, Hôpital Avicenne, CHU Mohammed VI, Faculté de médecine et de pharmacie de Marrakech, Maroc.

Objective: Thalassemias is the consequence of a synthesis imbalance between the α and β chains of hemoglobin. It's a hereditary haemolytic anemias, which presents a problem of public health because of their frequency and the difficulties of their care. The objective of this work is to study the epidemiological, clinico-biological, therapeutic and evolutionary profile of thalassemic patients in Morocco. Read More

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http://dx.doi.org/10.1684/abc.2019.1433DOI Listing
April 2019
1 Read

[Analysis of Gene Mutation Types in 920 Cases of Thalassemia].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Apr;27(2):545-548

Department of Clinical laboratorial Examination, Laibin Maternal and Child Health Hospital, Laibin 546100, Guangxi Zhuang Autonomous Region, China.

Objective: To investigate the gene mutation types and distribution features of α- and β-thalassemia in reproductive population of Xing bin district of Guangxi Lai bin city so as to provide the scientific basis for formulating the preventive and control measures.

Methods: The high risk population with thalassemia in 6 498 people of child-bearing age admited in department of antenatal care of our hospital from January 2017 to December 2017 were screened by blood cell test and hemoglobin electrophoresis. The gene mutation types and mutation frequency in αandβthalassemia positive cases were diagnosed and analyzied by Gap-PCR and PCR-RDB. Read More

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2019.02.038DOI Listing
April 2019
2 Reads

[Significance of Tissue Factor-Bearing Microparticle Procoagulation Activity and Antithrombin Ⅲ Detection in Thalassemia Patients].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Apr;27(2):539-544

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China.

Objective: To explore whether the high risk factors possibly leading to hypercoagulative status and thrombosis exist in Thalassemia patients of Guangxi region through detecting plasma tissne factor-bearing microparticles (TFMP), procoagulatima activity, coagulation and anticoagulation function, fibrinolytic function, endothelial function and platelet count.

Methods: The TFMP procoagulation activity was detected by chromogenic saubstract method, the levels of tissue factors (TF), tissue factor pathway inhibitor(TFPI), protein C (PC), protein S (PS), antithrombin Ⅲ(AT-Ⅲ), tissue plasminogen activator (tPA), thrombin-activated fibrinolysis inhibitor (TAFI), soluble E-selectin (sE-sel), intercellular adhesion molecule-1 (ICAM-1) and thrombomodulin (TM) were detected by ELISA in thalassemia group (n=71) and control group (n=20 heathy persons).

Results: Compared with control group, the AT-Ⅲ level decreased in β-thalastemia major group (TM) (P<0. Read More

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2019.02.037DOI Listing
April 2019
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Angiopoietin-2 as a Marker of Retinopathy in Children and Adolescents With Sickle Cell Disease: Relation to Subclinical Atherosclerosis.

J Pediatr Hematol Oncol 2019 Apr 15. Epub 2019 Apr 15.

Departments of Pediatric.

Objectives: Angiopoietin-2 (Ang-2) is a multifaceted cytokine that functions in both angiogenesis and inflammation. A proangiogenic state has been found in adults with sickle cell disease (SCD), mainly because of elevated Ang-2 levels. We determined Ang-2 level in 40 children and adolescents with SCD compared with 40 healthy controls and assessed its relation to retinopathy as well as carotid intimamedia thickness (CIMT). Read More

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http://dx.doi.org/10.1097/MPH.0000000000001486DOI Listing
April 2019
2 Reads

Impact of Genotype of Beta Globin Gene on Hepatic and Myocardial Iron Content in Egyptian Patients with Beta Thalassemia.

Indian J Hematol Blood Transfus 2019 Apr 8;35(2):284-291. Epub 2018 Nov 8.

2Radiodiagnosis Department, Zagazig University, Zagazig, Egypt.

Iron overload causes most of the mortality and morbidity associated with thalassemia. Excess iron deposits primarily in the liver, but once a threshold level is reached, iron loading may occur in other tissues such as the heart. Magnetic resonance imaging is a well established technique to noninvasively quantify myocardial and liver iron content. Read More

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http://link.springer.com/10.1007/s12288-018-1034-x
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http://dx.doi.org/10.1007/s12288-018-1034-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439044PMC
April 2019
2 Reads

Platelet proteome reveals specific proteins associated with platelet activation and the hypercoagulable state in β-thalassmia/HbE patients.

Sci Rep 2019 Apr 15;9(1):6059. Epub 2019 Apr 15.

Oxidation in Red Cell Disorders and Health Task Force, Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand.

A hypercoagulable state leading to a high risk of a thrombotic event is one of the most common complications observed in β-thalassemia/HbE disease, particularly in patients who have undergone a splenectomy. However, the hypercoagulable state, as well as the molecular mechanism of this aspect of the pathogenesis of β-thalassemia/HbE, remains poorly understood. To address this issue, fifteen non-splenectomized β-thalassemia/HbE patients, 8 splenectomized β-thalassemia/HbE patients and 20 healthy volunteers were recruited to this study. Read More

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http://www.nature.com/articles/s41598-019-42432-2
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http://dx.doi.org/10.1038/s41598-019-42432-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465338PMC
April 2019
2 Reads

Comparative effectiveness of alendronate and zoledronic acid on bone mass improvement in transfusion-dependent thalassemia patients.

J Bone Miner Metab 2019 Apr 11. Epub 2019 Apr 11.

Hematology Research Centre, Nemazee Hospital, Shiraz University of Medical Sciences, 7193635899, Shiraz, Iran.

Thalassemia, as the most prevalent genetic blood disorder, has many associated comorbidities including low bone mass. We studied the comparative effectiveness of alendronate (AL) and zoledronic acid (ZOL) on bone mass improvement in transfusion-dependent thalassemia (TDT) patients a year after treatment. Three hundred seventy-five TDT patients with low bone mass were enrolled in this study. Read More

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http://dx.doi.org/10.1007/s00774-019-01003-1DOI Listing
April 2019
1 Read

Left and Right Atrial Function and Remodeling in Beta-Thalassaemia Major.

Pediatr Cardiol 2019 Apr 10. Epub 2019 Apr 10.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.

This study aimed to assess left (LA) and right atrial (RA) function in patients with beta-thalassaemia major. Thirty-eight patients (19 males) aged 34.5 ± 10. Read More

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http://dx.doi.org/10.1007/s00246-019-02105-3DOI Listing
April 2019
1 Read

Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husband.

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):323-325

Department of Hematology, Central Reference Laboratory, SRL Limited, Mumbai, Maharashtra, India.

Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have been reported from India in the past. Read More

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http://dx.doi.org/10.4103/IJPM.IJPM_218_18DOI Listing
April 2019
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Non-transfusion-dependent β-Thalassemia Because of a Single β-Thalassemia Mutation and Coinherited α-Globin Gene Triplication: Need for Increased Awareness to Prevent Incorrect and Delayed Diagnosis.

J Pediatr Hematol Oncol 2019 Apr 8. Epub 2019 Apr 8.

Division of Hematology.

The thalassemias are genetically complex and usually autosomal recessive. We describe 5 unrelated individuals with non-transfusion-dependent β-thalassemia (NTDT), some with apparently dominant transmission, because of a single β-thalassemia mutation coinherited with a triplicated α-globin locus. Each had an initial, incorrect diagnosis of β-thalassemia trait. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001470DOI Listing
April 2019
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Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

Mol Genet Genomic Med 2019 Apr 9:e680. Epub 2019 Apr 9.

Department of Hematology, Peking Union Medical College, Chinese Academe of Medical Science, Beijing, China.

Background: Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported. Read More

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http://dx.doi.org/10.1002/mgg3.680DOI Listing
April 2019
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Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology.

Blood Res 2019 Mar 21;54(1):17-22. Epub 2019 Mar 21.

Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Read More

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http://dx.doi.org/10.5045/br.2019.54.1.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439293PMC
March 2019
3 Reads

Increased endothelial activation in α-thalassemia disease.

Ann Hematol 2019 Apr 5. Epub 2019 Apr 5.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Ratchathewi District, Bangkok, 10400, Thailand.

One complication of thalassemia is thromboembolism (TE), which is caused by an abnormal red blood cell surface, as well as endothelial and platelet activation. These findings are commonly observed in severe β-thalassemia. However, limited information on α-thalassemia exists. Read More

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http://dx.doi.org/10.1007/s00277-019-03672-4DOI Listing

Unrelated donor peripheral blood stem cell transplantation for patients with β-thalassaemia major based on a novel conditioning regimen.

Biol Blood Marrow Transplant 2019 Apr 2. Epub 2019 Apr 2.

Department of Hematology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, PR China; Department of Pediatric Hematology-Oncology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, PR China. Electronic address:

Allogeneic hematopoietic stem cell transplantation (Allo-HSCT) is the only available curative treatment for patients with β-thalassemia major (β-TM). However, the problem of finding a suitable sibling donor (SD) with well-matched human leukocyte antigens (HLAs) is still a major obstacle to curing these patients. With the progress in high-resolution HLA typing technology and supportive care, outcomes after allo-HSCT from a HLA-well-matched unrelated donor (UD) now approach those of well-matched SDs. Read More

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http://dx.doi.org/10.1016/j.bbmt.2019.03.028DOI Listing
April 2019
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[Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr;36(4):297-300

Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect Research, Fuzhou, Fujian 350001, China. Email:

Objective: To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area.

Methods: Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.04.002DOI Listing
April 2019
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Beta-thalassemia: renal complications and mechanisms: a narrative review.

Hematology 2019 Dec;24(1):426-438

f Department of Nephrology , Hippokration Hospital, Aristotle University of Thessaloniki , Thessaloniki , Greece.

Objectives: Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin chain synthesis, ineffective erythropoiesis, and anemia. Improved survival in thalassemic patients has led to the emergence of previously unrecognized complications, such as renal disease.

Methods: A comprehensive literature review through PubMed was undertaken to summarize the published evidence on the epidemiology and pathophysiology of renal disease in thalassemia. Read More

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http://dx.doi.org/10.1080/16078454.2019.1599096DOI Listing
December 2019
2 Reads
1.189 Impact Factor

A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient.

Int J Lab Hematol 2019 Apr 4. Epub 2019 Apr 4.

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

Introduction: Although mutations in the human beta-globin gene cluster are essentially point mutations, several large deletions have been described in recent years.

Methods: We have identified a novel 223 kb deletion in a Chinese patient by multiplex ligation-dependent probe amplification and characterized it by next-generation sequencing, Gap-PCR, and DNA sequence analysis.

Results: The deletion extends from the 3'UTR of the δ globin gene (HBD) to 215 kb downstream of the HBB. Read More

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http://dx.doi.org/10.1111/ijlh.13021DOI Listing
April 2019
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Exome sequencing and bioinformatic approaches reveals rare sequence variants involved in cell signalling and elastic fibre homeostasis: new evidence in the development of ectopic calcification.

Cell Signal 2019 Mar 26;59:131-140. Epub 2019 Mar 26.

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

Elastic fibres undergo aberrant mineralization in genetic as well as in acquired pathologic conditions causing severe impairment of tissue mechanical properties. Despite the number of investigations performed so far, the pathogenesis of these alterations is still elusive, due to both the complexity of the elastin network and the involvement of many genes and/or pro-osteogenic signalling pathways. Whole Exome Sequencing (WES) was performed on DNA from three patients affected by beta-thalassemia exhibiting soft connective tissue calcification. Read More

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http://dx.doi.org/10.1016/j.cellsig.2019.03.020DOI Listing
March 2019
1 Read

The impact of illness perception and socio-clinico-demographic factors on perceived quality of life in children and adolescents with thalassemia intermedia.

Pediatr Blood Cancer 2019 Mar 29:e27735. Epub 2019 Mar 29.

Public Health and Community Medicine Department, Faculty of Medicine, Fayoum University, Fayoum, Egypt.

Background/objectives: β-Thalassemia intermedia (β-TI) accounts for up to one-fourth of β-thalassemia patients. Evaluating and improving quality of life (QOL) should be a goal in β-TI follow-up and management strategies. Patients' perceptions of their illness and its treatment may impact their QOL. Read More

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http://dx.doi.org/10.1002/pbc.27735DOI Listing
March 2019
5 Reads

An unusual case of a posterior mediastinal myelolipoma in a patient with mediterranean anemia.

Pan Afr Med J 2018;31:58. Epub 2018 Sep 27.

Department of Thoracic Surgery, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.11604/pamj.2018.31.58.17041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431411PMC
April 2019
1 Read

Therapeutic mechanism of combined oral chelation therapy to maximize efficacy of iron removal in transfusion-dependent thalassemia major - a pilot study.

Expert Rev Hematol 2019 Apr 28;12(4):265-272. Epub 2019 Mar 28.

d Division of Pediatric Hematology and Oncology , China Medical University Children's Hospital , Taichung , Taiwan.

Objectives: Three iron chelators are used to treat transfusion-dependent beta-thalassemia: desferrioxamine (DFO), deferasirox (DFX), and deferiprone (DFP). Compliance is low for DFO as it cannot be administered orally. Combined administration of DFP and DFX is orally available, however, the therapeutic mechanism is unknown. Read More

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http://dx.doi.org/10.1080/17474086.2019.1593823DOI Listing
April 2019
4 Reads

Highly efficient therapeutic gene editing of human hematopoietic stem cells.

Nat Med 2019 Mar 25. Epub 2019 Mar 25.

Division of Hematology/Oncology, Boston Children's Hospital , Boston, MA, USA.

Re-expression of the paralogous γ-globin genes (HBG1/2) could be a universal strategy to ameliorate the severe β-globin disorders sickle cell disease (SCD) and β-thalassemia by induction of fetal hemoglobin (HbF, αγ). Previously, we and others have shown that core sequences at the BCL11A erythroid enhancer are required for repression of HbF in adult-stage erythroid cells but are dispensable in non-erythroid cells. CRISPR-Cas9-mediated gene modification has demonstrated variable efficiency, specificity, and persistence in hematopoietic stem cells (HSCs). Read More

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http://dx.doi.org/10.1038/s41591-019-0401-yDOI Listing
March 2019
3 Reads
27.363 Impact Factor

A new form of thalassemia intermedia: Compound heterozygous beta thalassemia and hemoglobin Zurich.

Pediatr Blood Cancer 2019 Jun 22;66(6):e27720. Epub 2019 Mar 22.

Department of Pediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Sha Tin, Hong Kong.

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http://dx.doi.org/10.1002/pbc.27720DOI Listing
June 2019
2 Reads

The experience of a tertiary unit on the clinical phenotype and management of hypogonadism in female adolescents and young adults with transfusion dependent thalassemia.

Acta Biomed 2019 Jan 23;90(1):158-167. Epub 2019 Jan 23.

Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.

Background: Transfusion-dependent β-thalassemia (TDT) is associated with several complications necessitating a multidisciplinary approach for diagnosis, treatment and follow-up. Hypogonadism in female TDT patients is one of the most common endocrine complications, requiring hormone replacement therapy (HRT) throughout reproductive life. Little is known about the balance of benefits versus risks of treatment with sex steroids. Read More

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http://www.mattioli1885journals.com/index.php/actabiomedica/
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http://dx.doi.org/10.23750/abm.v90i1.8143DOI Listing
January 2019
4 Reads

Spontaneous iliopsoas hematoma in a trasfusion dependent β-thalassemia patient with hypersplenism: a case report.

Acta Biomed 2018 Dec 4;90(1):107-111. Epub 2018 Dec 4.

Department of Medical Education Hamad Medical Corporation (HMC), Doha, Qatar.

A 27-year-old married man with transfusion dependent β-thalassemia (TDT) complaining low back pain due to a spontaneous iliopsoas hematoma is reported. A magnetic resonance imaging (MRI) confirmed the diagnosis.The patient was managed conservatively. Read More

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http://dx.doi.org/10.23750/abm.v90i1.7943DOI Listing
December 2018
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Meeting Report: The Equality Project on Endocrine Complications in Thalassemia: Selected Highlights from the First Turkish Congress, Antalya, 10th-11th December 2018.

Pediatr Endocrinol Rev 2019 Mar;16(3):401-411

Mediterranean Blood Diseases Foundation (AKHAV), Board Member and Equality Project Manager, Antalya,Turkey.

Major difficulties reported by endocrinologists /pediatricians/ hematologists in the care of thalassemic patients with endocrine complications were: lack of facilities, correct interpretation of tests, unfamiliarity with medical treatment and the cost of diagnostics and therapeutics. Therefore, there is a felt need to educate and train more endocrinologists/pediatricians/hematologists in this field in order to optimise growth and prevent endocrine complications. To achieve this goal, in 2015, a project called Equality was submitted by three countries (Turkey, Spain and Italy) and approved by the European Union (EU) with the aim to train doctors and nurses, taking care of youth and young adults TM patients, in the prevention, diagnosis, and management of endocrine disorders. Read More

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http://dx.doi.org/10.17458/per.vol16.2019.csc.mr.thalassemiaDOI Listing
March 2019
3 Reads

Hydroxyurea (hydroxycarbamide) for transfusion-dependent β-thalassaemia.

Cochrane Database Syst Rev 2019 03 16;3:CD012064. Epub 2019 Mar 16.

Department of Pediatric Hematology and Oncology, National Institute of Blood Disease & Bone Marrow Transplant, ST 2/A Block 17 Gulshan-e-Iqbal, KDA Scheme 24, Karachi, Sindh, Pakistan, 75300.

Background: Hydroxyurea (hydroxycarbamide) promotes the production of foetal haemoglobin (HbF) by reactivating gamma-genes. Evidence has shown clinical benefits of hydroxyurea in people with sickle cell anemia; however, only a few studies have assessed this treatment in people with beta (β)-thalassaemia.

Objectives: The primary objective is to review the efficacy of hydroxyurea in reducing or ameliorating the requirement of blood transfusions in people with transfusion-dependent β-thalassaemia. Read More

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http://dx.doi.org/10.1002/14651858.CD012064.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421980PMC
March 2019
9 Reads

Assessment of thiol/disulfide balance as an oxidative stress marker in children with β-thalassemia major.

Pak J Med Sci 2019 Jan-Feb;35(1):161-165

Abdullah Solmaz, Department of Pediatrics, Faculty of Medicine, Harran University, Sanliurfa, Turkey.

Objective: We aimed to investigate the oxidative stress status in children with β-thalassemia major (β-TM) by measuring native thiol (SH), disulfide (SS) and total thiol (SH + SS) plasma levels.

Methods: This study was carried out from November 2017 to March 2018 at the Pediatric Hematology Clinic of the Harran University Medical Faculty Hospital. Blood specimens were collected from 100 participants, including 50 β-TM patients and 50 controls, and SH, SS and SH+SS levels were detected through a newly developed method. Read More

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http://dx.doi.org/10.12669/pjms.35.1.307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408658PMC
March 2019
1 Read

Cardiac involvement by CMR in different genotypic groups of thalassemia major patients.

Blood Cells Mol Dis 2019 Mar 7;77:1-7. Epub 2019 Mar 7.

Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy. Electronic address:

Beta thalassemia major (β-TM) displays a great deal of phenotypic heterogeneity, not fully investigated in terms of cause-effect. We aimed to detect if different genotypic groups could be related to different levels of cardiac impairment, evaluated by cardiovascular magnetic resonance (CMR). We considered 671 β-TM patients (age 30. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183044
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http://dx.doi.org/10.1016/j.bcmd.2019.01.008DOI Listing
March 2019
5 Reads

Effect of heterozygous beta thalassemia on HbA1c levels in individuals without diabetes mellitus: A cross sectional study.

Clin Chim Acta 2019 Mar 13;494:132-137. Epub 2019 Mar 13.

First Department of Propaedeutic Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Aims: To investigate the effect of heterozygous β-thalassemia on HbA1c levels in a population without diabetes mellitus (DM).

Methods: Using a cross-sectional design, HbA1c levels were compared between two groups of 100 consecutive carriers of β-thalassemia and 100 healthy controls matched for age, gender and BMI, taking into account fasting serum glucose and fructosamine levels. The effect of hemoglobin concentration on HbA1c was also examined. Read More

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http://dx.doi.org/10.1016/j.cca.2019.03.1611DOI Listing
March 2019
2 Reads

Improvements in haploidentical transplantation for sickle cell disease and β-thalassaemia.

Authors:
John Tisdale

Lancet Haematol 2019 04 14;6(4):e168-e169. Epub 2019 Mar 14.

Cellular and Molecular Therapeutics Branch, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/S2352-3026(19)30045-6DOI Listing
April 2019
1 Read

Bone Metabolism Markers in Thalassemia Major-Induced Osteoporosis: Results from a Cross-Sectional Observational Study.

Curr Mol Med 2019 Mar 13. Epub 2019 Mar 13.

Hematology/Oncology Unit, First Department of Pediatrics, National and Kapodistrian University of Athens, Thivon & Levadeias, 11527, Goudi, Athens. Greece.

Background: Thalassemia major (TM) patients eventually face many new health conditions, including endocrinopathies and low bone mineral density, usually observed in the aging general population.

Objective: The aim of the current study was to evaluate biomarkers of bone remodeling in TM patients and to compare them with both osteoporotic and healthy population, in order to investigate new therapeutic paths.

Method: Sixty-four patients with TM (32 men and 32 women) participated in the study. Read More

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http://dx.doi.org/10.2174/1566524019666190314114447DOI Listing
March 2019
1 Read

Mutational Analysis Of Beta Thalassaemia By Multiplex Arms-Pcr In Khyber Pakhtunkhwa, Pakistan.

J Ayub Med Coll Abbottabad 2019 Jan-Mar;31(1):98-103

Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.

Background: Beta thalassaemia is one of the commonest genetic conditions in the world. More than 200 different mutations have been reported in the beta globin chain genes. Notably, regional and ethnic variations in most common mutations in beta-thalassaemia have been identified. Read More

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March 2019
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Impact of β-thalassemia trait carrier state on inflammatory status in patients with newly diagnosed hypertension.

J Cardiovasc Med (Hagerstown) 2019 May;20(5):284-289

First Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.

Background: B-thalassemia carrier state or thalassemia minor confers cardiovascular protection through favorable lipidemic and blood pressure profile. However, its impact on inflammatory status-a common denominator of the above conditions-has not been addressed.

Methods: We investigated a wide range of inflammatory markers [white blood cell (WBC) count, homocysteine, C-reactive protein (CRP), serum amyloid A (SAA), fibrinogen, plasminogen, fibronectin, plasminogen activator inhibitor-1 (PAI-1), and uric acid] in a large cohort of 15 805 newly diagnosed hypertensive patients (8299 men, 7506 women); 626 of them (4. Read More

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http://dx.doi.org/10.2459/JCM.0000000000000787DOI Listing
May 2019
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Prevalence and Genetic Analysis of - and -Thalassemia and Sickle Cell Anemia in Southwest Iran.

J Epidemiol Glob Health 2018 Dec;8(3-4):189-195

Research Center of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

This prospective study assessed the prevalence and genetic analysis of - and -thalassemia and sickle cell anemia (SCA) in Southwest Iran. Hematological indices were measured in 17,581 couples living in Khuzestan Province, Southwest Iran. Individuals with mean corpuscular volume <80, mean corpuscular hemoglobin <27, hemoglobin A2 ≥3/5 were considered as -thalassemia traits. Read More

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http://dx.doi.org/10.2991/j.jegh.2018.04.103DOI Listing
December 2018
4 Reads

Pregnancy in Thalassemia.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019019. Epub 2019 Mar 1.

University of Cagliari, Italy.

Therapeutic advances, including the availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of thalassemia patients, with a consequent increase in their reproductive potential and desire to have children. Hundreds of pregnancies have been reported so far, highlighting that women carefully managed in the preconception phase usually carry out a successful gestation and labor, both in case of spontaneous conception and assisted reproductive techniques. A multidisciplinary team including a cardiologist, an endocrinologist, and a gynecologist, under the supervision of an expert in beta-thalassemia, should be involved. Read More

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http://dx.doi.org/10.4084/MJHID.2019.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402552PMC
March 2019
1 Read

Oxidation and erythropoiesis.

Curr Opin Hematol 2019 May;26(3):145-151

Department of Medicine, University Hospital of Verona, Azienda Ospedaliera Universitaria Integrata (AOUI) Verona, Verona, Italy.

Purpose Of Review: Erythropoiesis is a complex multistep process going from committed erythroid progenitors to mature red cells. Although recent advances allow the characterization of some components of erythropoiesis, much still remains to be investigated particularly on stress erythropoiesis. This review summarizes recent progresses made to understand the impact of oxidative stress on normal and pathologic erythropoiesis. Read More

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http://dx.doi.org/10.1097/MOH.0000000000000495DOI Listing

Association study of rs10768683 and rs968857 polymorphisms with transfusion-dependent thalassemia (TDT) in a southern Iranian population.

Nucleosides Nucleotides Nucleic Acids 2019 Mar 8:1-12. Epub 2019 Mar 8.

d Department of Medical Genetics School of Medicine , Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.

Previous studies reported that detection of polymorphisms inherited through paternal model could be potential markers for the Non-Invasive Prenatal Diagnosis (NIPD) of β-thalassemia. The aim of the current study was to find out the associations of rs10768683 and rs968857 with transfusion-dependent thalassemia (TDT) in a southern Iranian population. A total of 175 subjects were investigated, divided into patients with TDT as case group (n = 75) and healthy people as control group (n = 100). Read More

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http://dx.doi.org/10.1080/15257770.2018.1498514DOI Listing
March 2019
6 Reads

First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.

Hemoglobin 2019 Mar 7:1-3. Epub 2019 Mar 7.

a Molecular Biology and Biotechnology Department, Human Genetics Division , Atomic Energy Commission of Syria , Damascus , Syria.

We describe a proband originating from Al-Quneitra Province, Syria. His hematology data was as follows: Hb A 24.7%, Hb F 71. Read More

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http://dx.doi.org/10.1080/03630269.2019.1577254DOI Listing
March 2019
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A Comparison Of Skeletal Age Of Thalassaemic Patients Of 9-15 Years With Chronological Age By Radiography.

J Ayub Med Coll Abbottabad 2018 Oct-Dec;30(Suppl 1)(4):S642-S646

Department of Anatomy, Bacha Khan Medical College, Mardan, Pakistan.

Background: Thalassemia is inherited disorder characterized by haemolytic anaemia, due to complete absence or reduced β-globin chain synthesis, stimulating pathological bone marrow overstimulation and altered erythropoiesis. The change in bone mass ultimately results into miss interpretation of bone age once assed from x-ray radiograph. The aims compare skeletal age of thalassaemic children of 9-15 years with chronological age by x-ray wrist bones. Read More

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March 2019
2 Reads

Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China.

Sci Rep 2019 Mar 5;9(1):3493. Epub 2019 Mar 5.

Prenatal Diagnosis Center of Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, China.

Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China. Read More

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http://dx.doi.org/10.1038/s41598-019-40089-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400947PMC
March 2019
5 Reads

Malignant Peritoneal Mesothelioma Without Asbestos Exposure.

Gastroenterology Res 2019 Feb 26;12(1):48-51. Epub 2019 Feb 26.

Department of Gastroenterology, Bronxcare Health System, Bronx, NY 10457, USA.

Malignant mesothelioma is a rare neoplasm of the serosal linings. Mesothelioma has been linked to asbestos exposure, with prior asbestos exposure linked to 33-50% of malignant peritoneal mesotheliomas. We describe a case of malignant peritoneal mesothelioma (MPM) without any prior exposure to asbestos in a 40-year-old Hispanic female who presented to the emergency department with worsening abdominal pain and distension. Read More

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http://dx.doi.org/10.14740/gr1141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396791PMC
February 2019
2 Reads

Neurocognitive Function and Its Related Potentials in Children with Beta Thalassemia Major: An Egyptian Study.

Open Access Maced J Med Sci 2019 Feb 16;7(3):322-328. Epub 2019 Jan 16.

National Research Centre, Child Health Department Dokki, Giza, Cairo, Egypt.

Background: Repeated blood transfusions and hemolysis in β-Thalassemia major children lead to iron overload in various organs, including the brain which may cause neurodegeneration.

Aim: To evaluate intelligence quotient in children with β-thalassemia major and healthy counterparts and to assess risk factors that cause cognitive problems.

Subjects And Methods: This case-control study was performed on 50 children aged 6-16 years old with β-thalassemia major as patients group and compared with 50 healthy children as a control group of matched age, sex, and social class. Read More

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http://dx.doi.org/10.3889/oamjms.2019.077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390139PMC
February 2019
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Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity.

J Clin Invest 2019 02 25;129(4):1566-1580. Epub 2019 Feb 25.

San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), and.

Background: The human bone marrow (BM) niche contains a population of mesenchymal stromal cells (MSCs) that provide physical support and regulate hematopoietic stem cell (HSC) homeostasis. β-Thalassemia (BT) is a hereditary disorder characterized by altered hemoglobin beta-chain synthesis amenable to allogeneic HSC transplantation and HSC gene therapy. Iron overload (IO) is a common complication in BT patients affecting several organs. Read More

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http://dx.doi.org/10.1172/JCI123191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436882PMC
February 2019
2 Reads

Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells.

J Vis Exp 2019 Feb 15(144). Epub 2019 Feb 15.

Stem Cell and Gene Therapy Program, Fred Hutchinson Cancer Research Center; Department of Medicine, University of Washington;

Hematopoietic stem and progenitor cell (HSPC) transplantation has been a cornerstone therapy for leukemia and other cancers for nearly half a century, underlies the only known cure of human immunodeficiency virus (HIV-1) infection, and shows immense promise in the treatment of genetic diseases such as beta thalassemia. Our group has developed a protocol to model HSPC gene therapy in nonhuman primates (NHPs), allowing scientists to optimize many of the same reagents and techniques that are applied in the clinic. Here, we describe methods for purifying CD34 HSPCs and long-term persisting hematopoietic stem cell (HSC) subsets from primed bone marrow (BM). Read More

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http://dx.doi.org/10.3791/58933DOI Listing
February 2019
4 Reads

The 60th American Society of Hematology Annual Meeting & Exposition.

Authors:
Walter Alexander

P T 2019 Mar;44(3):138-142

We report on two presentations on β-thalassemia and myelodysplastic syndromes, three presentations on chronic lymphocytic leukemia, and others on perioperative oral anticoagulation, sickle-cell anemia, diffuse large B-cell lymphoma, and multiple myeloma. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385735PMC
March 2019
1 Read