14,876 results match your criteria Thalassemia Beta


Alloimmunization and autoimmunization in adult transfusion-dependent thalassemia patients: a report from a comprehensive center in Israel.

Ann Hematol 2020 Jun 2. Epub 2020 Jun 2.

Comprehensive Center of Thalassemia, Hemoglobinopathies & Rare Anemias, Institute of Hematology, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel.

Patients with beta thalassemia major (TM) are transfusion-dependent (TD) since early childhood and for life. Development of alloantibodies and autoantibodies against red blood cell (RBC) antigens is increasingly recognized as a significant transfusion hazard, especially among heavily transfused patients. The aim of this study is to assess RBC alloimmunization and autoimmunization rates in TD TM patients treated in our Comprehensive Center of Adult Thalassemia, Hemoglobinopathies and Rare Anemias. Read More

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http://dx.doi.org/10.1007/s00277-020-04104-4DOI Listing

Prevalence and Mortality due to Outbreak of Novel Coronavirus Disease (COVID-19) in β-Thalassemias: The Nationwide Iranian Experience.

Br J Haematol 2020 Jun 2. Epub 2020 Jun 2.

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

In late December 2019, an ongoing outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection that was termed Coronavirus Disease 2019 (COVID-19), was reported in Wuhan, China (Zhu, et al 2020). Read More

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http://dx.doi.org/10.1111/bjh.16911DOI Listing

Association of Hb A Variants with Several Forms of α- and β-Thalassemia in Thailand.

Hemoglobin 2020 Jun 1:1-5. Epub 2020 Jun 1.

Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

In this study, Hb A variants and their association with α- and β-thalassemia (α- and β-thal) were analyzed. We performed molecular analyses to identify α-thal [- - (Southeast Asian), - - (Thai), -α (rightward) and -α (leftward)] deletions, and Hb Constant Spring (Hb CS; : c.427T>C), Hb A-Melbourne (: c. Read More

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http://dx.doi.org/10.1080/03630269.2020.1770099DOI Listing

Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers.

J Mol Diagn 2020 May 28. Epub 2020 May 28.

Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, 350001, China. Electronic address:

Currently, carrier testing for thalassemia requires the application of different molecular tests to provide an accurate genotype. As an alternative methodology, we evaluated long molecule sequencing (LMS) on the PacBio Sequel platform for genotyping carriers of alpha (α) or beta (β) thalassemia. Multiplex long PCR was used to generate representative amplicons for the α (HBA1/2) and β (HBB) gene loci. Read More

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http://dx.doi.org/10.1016/j.jmoldx.2020.05.004DOI Listing

[Effect of high-throughput sequencing for the prevention and control of thalassemia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jun;37(6):645-649

Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China.

Objective: To assess the value of next generation sequencing (NGS) for the prevention and control of thalassemia.

Methods: NGS was used to sequence 3083 clinical blood samples suspected for thalassemia during initial screening. Retrospective analysis was conducted on blood samples detected with rare genotypes of thalassemia and abnormal hemoglobin. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.06.012DOI Listing

Evaluation of the efficacy and safety of deferiprone compared with deferasirox in paediatric patients with transfusion-dependent haemoglobinopathies (DEEP-2): a multicentre, randomised, open-label, non-inferiority, phase 3 trial.

Lancet Haematol 2020 Jun;7(6):e469-e478

Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus, Valenzano, Italy.

Background: Transfusion-dependent haemoglobinopathies require lifelong iron chelation therapy with one of the three iron chelators (deferiprone, deferasirox, or deferoxamine). Deferasirox and deferiprone are the only two oral chelators used in adult patients with transfusion-dependent haemoglobinopathies. To our knowledge, there are no randomised clinical trials comparing deferiprone, a less expensive iron chelator, with deferasirox in paediatric patients. Read More

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http://dx.doi.org/10.1016/S2352-3026(20)30100-9DOI Listing

Nonmyeloablative matched sibling stem cell transplantation with the optional reinforced stem cell infusion for patients with hemoglobinopathies.

Eur J Haematol 2020 May 29. Epub 2020 May 29.

Catholic Hematology Hospital, Seoul St. Mary's Hospital, Leukemia Research Institute, College of Medicine, The Catholic University of Korea, Seoul, South Korea.

Background: The NIH protocol for nonmyeloablative (NMA) conditioning allogeneic stem cell transplantation (alloSCT) with alemtuzumab and low-dose total body irradiation corrected the abnormal sickle cell disease (SCD) phenotype without the risk of graft-versus-host disease. AlloSCT using NMA conditioning had been rarely applied to β-thalassemia major (β-TM) patients.

Methods: To avoid prolonged immunosuppression, we developed a two-stage strategy. Read More

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http://dx.doi.org/10.1111/ejh.13455DOI Listing

Graft Versus Host Disease Prophylaxis With Abatacept Reduces Severe Acute Graft Versus Host Disease in Allogeneic Hematopoietic Stem Cell Transplant for Beta Thalassemia Major with Busulfan, Fludarabine, and Thiotepa.

Transplantation 2020 May 25. Epub 2020 May 25.

Division of Bone Marrow Transplant and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.

Introduction: We hypothesized that the addition of 4 doses of abatacept to our standard acute graft versus host disease (GVHD) prophylaxis would reduce the incidence of day+100 severe acute GVHD in children with transfusion dependent beta- thalassemia major undergoing a myeloablative allogeneic hematopoietic stem cell transplant (HSCT), without impacting engraftment.

Methods: Twenty-four children with beta-thalassemia major received abatacept at a dose of 10 mg/kg intravenously on days -1, +5, +14 and +28 after HSCT in addition to calcineurin inhibitors and methylprednisolone. Outcomes were compared to 8 beta thalassemia patients who received standard acute GVHD prophylaxis. Read More

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http://dx.doi.org/10.1097/TP.0000000000003327DOI Listing

Sodium, Magnesium, Calcium, Manganese, Iron, Copper, and Zinc in Serums of Beta Thalassemia Major Patients.

Biol Trace Elem Res 2020 May 28. Epub 2020 May 28.

Department of Chemistry, Yıldız Technical University, 34349, İstanbul, Turkey.

Thalassemia major is the most severe form of thalassemia and occurs with the impaired synthesis of β-globin which causes the accumulation of unpaired alpha globin chain. Patients with beta thalassemia major can only survive with periodically safe blood transfusions leading to the accumulation of iron in the bloods of patients, and this causes several endocrinopathies. Although iron overload in thalassemic patients has been extensively studied, there is little information about the levels of other trace elements. Read More

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http://dx.doi.org/10.1007/s12011-020-02217-5DOI Listing

Long--Term Free Survival of Two Class III β-Thalassemic Patients after Non-Myeloablative Stem Cell Transplantation.

Int J Hematol Oncol Stem Cell Res 2020 Apr;14(2):118-122

Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran.

At present, hematopoietic stem cell transplantation is the only curative treatment for β thalassemia patients. Conventional myeloablative stem cell transplantation is associated with significant morbidity and mortality, and non-myeloablative stem cell transplantation is associated with high graft failure rate. Some modification in this treatment approach can result in successful transplantation in thalassemia patients. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231797PMC

Genetic Variation in SOD1 Gene Promoter Ins/Del and Its Influence on Oxidative Stress in Beta Thalassemia Major Patients.

Int J Hematol Oncol Stem Cell Res 2020 Apr;14(2):110-117

Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.

A genetic polymorphism of 50 bp insertion/deletion (Ins/Del) () in the promoter region of the SOD1 was reported to influence the enzyme activity. The present study aimed to evaluate the status of this polymorphism of human peripheral blood cells and its association with SOD enzyme activity in beta-thalassemia major patients. The study was carried out on 200 thalassemia major patients and 200 healthy controls healthy. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231791PMC

A cost-of-illness analysis of β-Thalassaemia major in children in Sri Lanka - experience from a tertiary level teaching hospital.

BMC Pediatr 2020 May 27;20(1):257. Epub 2020 May 27.

Liverpool School of Tropical Medicine, Liverpool, UK.

Background: Sri Lanka has a high prevalence of β-thalassaemia major. Clinical management is complex and long-term and includes regular blood transfusion and iron chelation therapy. The economic burden of β-thalassaemia for the Sri Lankan healthcare system and households is currently unknown. Read More

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http://dx.doi.org/10.1186/s12887-020-02160-3DOI Listing

BETA THALASSEMIA MINOR PATIENTS: NOT TIRED, BUT DEPRESSED AND ANXIOUS.

Med Princ Pract 2020 May 27. Epub 2020 May 27.

We aimed to investigate whether the severity of fatigue and the incidences of depression and anxiety of patients with beta thalassemia minor (BTm) are different than healthy individuals using Fatigue Severity Scale (FSS) and Hospital Anxiety and Depression Scale (HADS) BTm patients who were followed in University of Health Sciences Istanbul Training and Research Hospital Hematology Clinic between 2016 and 2017, who had normal biochemical parameters, thyroid function tests and C-reactive protein (CRP) levels, and didn't use any medications, consume alcohol or tobacco, have any chronic diseases or sleep disturbances were included in the study. Healthy control subjects who were matched with age, sex, marital status, educational status and body mass index (BMI), were also included for comparison. Thirty-nine BTm patients and 25 healthy controls were included in the study. Read More

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http://dx.doi.org/10.1159/000508981DOI Listing

Outcomes of a preoperative risk-based transfusion assignment protocol in sickle cell disease patients: a single-center retrospective study from Saudi Arabia.

Pediatr Hematol Oncol 2020 May 27:1-11. Epub 2020 May 27.

Princess Noorah Oncology Center, King Abdul-Aziz Medical City, Ministry of National Guard - Health Affairs, Jeddah, Saudi Arabia.

Many patients with sickle cell disease (SCD) need surgical management during their lifetime. The best approach for preoperative transfusion in SCD is still to be determined. In this single-center retrospective study, we included HBSS/HBS-Beta-thalassemia patients younger than 16 years of age who underwent surgery between January 2008 and July 2019. Read More

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http://dx.doi.org/10.1080/08880018.2020.1767738DOI Listing

Missing Hb Q-India Peak in a Triple-Heterozygous Patient with Hb D-Punjab/Hb Q-India/β-Thalassemia Trait.

Hemoglobin 2020 May 25:1-3. Epub 2020 May 25.

Departments of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh (Union Territory), India.

Interpretation of variant hemoglobins (Hbs) can pose challenges. We describe a puzzling case with multiple variant Hb peaks that was solved by family studies. A 32-year-old female with anemia and jaundice underwent cation exchange high performance liquid chromatography (HPLC), which revealed near-absence of Hb A along with variant peaks in the D- and C-windows (78. Read More

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http://dx.doi.org/10.1080/03630269.2020.1767128DOI Listing

Genetic Regulation of Redox Balance in β-Thalassemia Trait.

Hemoglobin 2020 May 25:1-6. Epub 2020 May 25.

Instituto de Bioquímica Aplicada, Facultad de Bioquímica, Química y Farmacia, Universidad Nacional de Tucumán, Tucumán, Argentina.

β-Thalassemia (β-thal) trait is a heterogeneous group of genetic defects leading to decreased β-globin production, ineffective erythropoiesis, and oxidative stress. The aim is to evaluate the cytoprotective response, at transcriptional and systemic levels, of the variations of global redox balance in β-thal trait patients. Sixty-six subjects (40 healthy and 26 with β-thal trait) were analyzed at the Universidad Nacional de Tucumán, Tucumán, Argentina, between 2016 and 2017. Read More

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http://dx.doi.org/10.1080/03630269.2020.1765794DOI Listing

Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.

Hemoglobin 2020 May 25:1-4. Epub 2020 May 25.

Center of Excellence in Sickle Cell Disease, Boston Medical Center, Boston, MA, USA.

Hb F modulates sickle cell disease. Five major haplotypes of the β-globin gene cluster are associated with sickle cell disease. In the Eastern Province of Saudi Arabia, the Arab-Indian (AI) is most common. Read More

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http://dx.doi.org/10.1080/03630269.2020.1739068DOI Listing

COVID-19: beta-thalassemia subjects immunised?

Med Hypotheses 2020 May 12;142:109827. Epub 2020 May 12.

Assemblée Nationale, 75355 Paris, France.

The novel coronavirus pneumonia (COVID-19) is a contagious acute respiratory infectious disease whose causative agent has been demonstrated to be a novel virus of the coronavirus family, SARSCoV-2. A recent PRE-print study has showed a heme attack on the 1-beta chain of hemoglobin by COVID19. Beta-thalassemia results of a default in the hemoglobin beta-chain synthesis. Read More

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http://dx.doi.org/10.1016/j.mehy.2020.109827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217120PMC

β2-Microglobulin, Neutrophil Gelatinase-Associated Lipocalin, and Endocan Values in Evaluating Renal Functions in Patients with β-Thalassemia Major.

Hemoglobin 2020 May 22:1-6. Epub 2020 May 22.

Department of Biochemistry, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.

Chronic anemia, transfusion-associated iron deposition, and chelating agents lead to renal impairment in β-thalassemia (β-thal) patients. The present study aimed to determine the most reliable and practical method in assessing and predicting renal injury in β-thal major (β-TM) patients. Therefore, we assessed the predictive values of urine β2-microglobulin (β2-MG) and neutrophil gelatinase-associated lipocalin (NGAL) levels, their ratios to urine creatinine, and serum endocan level. Read More

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http://dx.doi.org/10.1080/03630269.2020.1766486DOI Listing

Mirror aneurysms of extracranial internal carotid arteries in a patient with beta-thalassemia major.

Acta Neurol Belg 2020 May 21. Epub 2020 May 21.

Department of Biochemistry, Erzurum Training and Research Hospital, Erzurum, Turkey.

Beta-thalassemia major is a chronic disorder characterised by severe anemia. This patient with beta-thalassemia major is the first magnetic resonance (MR) angiographic case for symmetric mirror aneurysms of the extracranial internal carotid arteries. For diagnosis of vascular complications requires angiographic procedures such as catheter angiography, computed tomography angiography, MR angiography, or Doppler ultrasonography. Read More

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http://dx.doi.org/10.1007/s13760-020-01379-2DOI Listing

Prevalence of Extended-Spectrum Beta-Lactamase-Producing Causing Bloodstream Infections in Cancer Patients from Southwest of Iran.

Infect Drug Resist 2020 6;13:1319-1326. Epub 2020 May 6.

Infectious and Tropical Diseases Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Introduction: This study aimed to evaluate the frequency rate of extended-spectrum beta-lactamase-producing (ESBL-PE) causing bloodstream infections (BSIs) in cancer patients referred to one of the major referral hospitals in Ahvaz city, southwest Iran.

Materials And Methods: In this study, 1700 blood cultures were collected from 610 cancer patients suspected to have BSI from October 2016 to August 2017 referred to the Shafa cancer hospital, Ahvaz, southwest of Iran. The blood culture bottles were incubated aerobically at 35-37ºC for 24 hours and then sub-cultured on routine microbiology culture media. Read More

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http://dx.doi.org/10.2147/IDR.S254357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212769PMC

2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance.

Haematologica 2020 May 21. Epub 2020 May 21.

Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, USA;

β-thalassemia is a disorder caused by altered hemoglobin protein synthesis and affects individuals worldwide. Severe forms of the disease, left untreated, can result in death before the age of 3 years (1). The standard of care consists of chronic and costly palliative treatment by blood transfusion combined with iron chelation. Read More

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http://dx.doi.org/10.3324/haematol.2019.226852DOI Listing

Severity of heart failure and health-related quality of life in beta-thalassemia patients: a cross-sectional study.

Ann Hematol 2020 May 21. Epub 2020 May 21.

First Department of Cardiology, Hippokration General Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece.

Cardiovascular complications account for a substantial increase in morbidity and mortality in beta-thalassemia patients. Many patients have structural heart disease, and some of them present with symptomatic heart failure (HF). Quality of life (QOL) of beta-thalassemia patients is lower than that of the general population. Read More

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http://dx.doi.org/10.1007/s00277-020-04032-3DOI Listing

[Gene characteristics and changing trend of neonatal thalassemia in Dongguan, China].

Zhongguo Dang Dai Er Ke Za Zhi 2020 May;22(5):454-459

Dongguan Maternal and Child Health Care Hospital, South Medical University, Dongguan Neonatal Disease Screening Center, Dongguan, Guangdong 523000, China.

Objective: To study the gene distribution characteristics of neonatal thalassemia in Dongguan, China and the changing trend of the gene distribution characteristics of neonates with thalassemia in Dongguan in 2014-2018.

Methods: A retrospective analysis was performed for the data on neonatal thalassemia screening from the Dongguan Neonatal Disease Screening System between January 2014 and December 2018. A total of 616 718 neonates were enrolled who were born in Dongguan. Read More

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Urinary Metabolic Profile of Patients with Transfusion-Dependent β-Thalassemia Major Undergoing Deferasirox Therapy.

Kidney Blood Press Res 2020 20;45(3):455-466. Epub 2020 May 20.

Rare Blood Cell Disease Unit, "Cardarelli" Hospital, Naples, Italy.

Introduction: Renal dysfunction is a frequent complication in patients suffering from β-thalassemia major (β-TM). The aim of this study was to analyze the renal function and urine metabolomic profile of β-TM patients undergoing transfusions and deferasirox (DFX) therapy, in order to better characterize and shed light on the pathogenesis of renal disease in this setting.

Methods And Subjects: 40 patients affected by β-TM treated with DFX and 35 age- and gender-matched healthy controls were enrolled in the study. Read More

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http://dx.doi.org/10.1159/000507369DOI Listing

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction.

Chin Med J (Engl) 2020 May;133(10):1175-1181

The Key Laboratory for Human Disease Gene Study of Sichuan Province and Institute of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.

Background: Patients carrying the HongKongαα (HKαα) allele and -α/ααα could be misdiagnosed as -α/αα by the current conventional thalassemia detection methods, leading to inaccurate genetic counseling and an incorrect prenatal diagnosis. This study was aimed to accurately analyze the genotypes of HKαα carriers and -α/ααα.

Methods: Samples were collected in our hospital from July 2017 to October 2019. Read More

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http://dx.doi.org/10.1097/CM9.0000000000000768DOI Listing

Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India.

Indian J Hematol Blood Transfus 2020 Apr 5;36(2):414-416. Epub 2019 Oct 5.

1Department of Medical Genetics, Manipal Hospital, Bangalore, India.

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http://dx.doi.org/10.1007/s12288-019-01206-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229139PMC

Thalidomide in Patients with Transfusion-Dependent E-Beta Thalassemia Refractory to Hydroxyurea: A Single-Center Experience.

Indian J Hematol Blood Transfus 2020 Apr 2;36(2):399-402. Epub 2020 Mar 2.

2Tata Medical Center, 14 MAR (E-W), New Town, Rajarhat, Kolkata, West Bengal 700156 India.

Transfusion-dependent E-Beta (EB) thalassemia is one of the major causes of hereditary hemoglobinopathies in India. Hydroxyurea has been tried for HbF induction and amelioration of the transfusion frequency in EB thalassemia. The primary objective of this retrospective study, conducted between January 2017 and December 2018, was to determine the efficacy of thalidomide in reducing transfusion frequency in patients with EB thalassemia who have failed a reasonable trial of hydroxyurea. Read More

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http://dx.doi.org/10.1007/s12288-020-01263-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229140PMC

Promising Response to Thalidomide in Symptomatic β-Thalassemia.

Authors:
Ahmed K Yassin

Indian J Hematol Blood Transfus 2020 Apr 18;36(2):337-341. Epub 2019 Nov 18.

Department of Medicine, College of Medicine, Hawler Medical university, Erbil, Iraq.

Over the past decade, few reports suggested that the drug thalidomide (HbF inducer) may be of value in a subset of transfusion-dependent and non-transfusion dependent thalassemia patients. A cohort of 37 patients with symptomatic β-thalassemia syndrome [14 transfusions dependent thalassemia (TDT), and 23 Non-transfusion dependent Thalassemia (NTDT)], who were unable to pursue conventional therapy with transfusion and chelation, were recruited over 3 years in a center in Iraqi Kurdistan. After taking informed consent, patients were put on low dose Thalidomide (2-10 mg/kg), with regular follow up after that for a minimum of 8 months for a response. Read More

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http://dx.doi.org/10.1007/s12288-019-01231-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229055PMC

Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Hemoglobin 2020 May 18:1-15. Epub 2020 May 18.

School of Pharmacy and Biomolecular Sciences, University of Brighton, Brighton, East Sussex, UK.

Hemoglobinopathies are inherited diseases that impair the structure and function of the oxygen-carrying pigment hemoglobin (Hb). Adult Hb consists of two α and two β subunits. α-Thalassemia (α-thal) affects the genes that code for the α-globin chains, and . Read More

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http://dx.doi.org/10.1080/03630269.2020.1739067DOI Listing

Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.

Hemoglobin 2020 May 18:1-3. Epub 2020 May 18.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.

Hemoglobinopathies are common inherited monogenic diseases that are likely to remain a serious regional health problem where thalassemias and sickle cell disease are prevalent. In regions where recessive alleles for hemoglobinopathy disorders are present with high consanguinity rates, such as in Palestine, coinheritance of two different genetic defects becomes anticipated and prevalent. In this report, we characterize the molecular variants of the gene for 16 patients with transfusion-dependent anemia registered at the Thalassemia Patient Friends Society in Nablus governorate, West Bank, Palestine. Read More

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http://dx.doi.org/10.1080/03630269.2020.1763398DOI Listing

The corrected QT interval prolongation in adolescents with cardiac iron overload β-thalassemia major.

Turk J Pediatr 2020 ;62(2):267-273

Department of Child Health, Faculty of Medicine Universitas Indonesia-Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Background And Objectives: Iron-induced cardiomyopathy remains the leading cause of mortality in β-thalassemia major patients. The T2* magnetic resonance imaging (MRI) technique is the gold standard for iron load detection, yet it is expensive and not widely available especially in the developing countries. Some previous studies showed that QTc interval could be used as an early detection of cardiac iron overload. Read More

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http://dx.doi.org/10.24953/turkjped.2020.02.013DOI Listing
January 2020

The pedigree analysis and prenatal diagnosis of Hong Kongαα Thalassemia and the sequence analysis of Hong Kongαα Allele.

Mol Genet Genomic Med 2020 May 18:e1285. Epub 2020 May 18.

Department of Genetics, Affiliated Hospital of Guilin Medical University, Guilin, People's Republic of China.

Background: Thalassemia is one of the most common monogenic hemolytic disorders in the world. Hong Kongαα (HKαα) thalassemia was initially found among the people of southern China. Because of the complexity of genetic changes in HKαα thalassemia, we lack a precise sequence analysis of the HKαα allele. Read More

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http://dx.doi.org/10.1002/mgg3.1285DOI Listing

Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis.

BMC Med Genet 2020 May 15;21(1):108. Epub 2020 May 15.

BioMolecular Analytics, 10 Independence Blvd, Suite 140, Warren, NJ, 07059, USA.

Background: Beta (β)-thalassemia is one of the most common inherited disorders worldwide, with high prevalence in the Mediterranean, the Middle East and South Asia. Over the past 40 years, awareness and prevention campaigns in many countries have greatly reduced the incidence of affected child births. In contrast, much remains to be done in South-Asia. Read More

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http://dx.doi.org/10.1186/s12881-020-01017-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229588PMC

Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.

Int J Lab Hematol 2020 May 15. Epub 2020 May 15.

ICMR-National Institute of Immunohaematology, Parel, India.

Introduction: The hemoglobinopathies are the commonest group of single gene disorders in the Indian subcontinent. Although genetic modifiers are known to have a remarkable effect on phenotypic expression, the effects of the possible co-inheritance of different modifiers are not taken into account during prenatal diagnosis. The present study was undertaken to look for the frequency of globin gene modifiers like the types of β-globin gene mutations, α thalassemia, α gene triplication, and the Xmn1 polymorphism in fetuses during antenatal diagnosis of hemoglobinopathies. Read More

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http://dx.doi.org/10.1111/ijlh.13232DOI Listing

Synthesis and Erythroid Induction Activity of New Thiourea Derivatives.

Med Chem 2020 May 13. Epub 2020 May 13.

H.E.J. Research Institute of Chemistry, International Center for Chemical and Biological Sciences,University of Karachi. Pakistan.

Background: The use of medicinal agents to augment the fetal hemoglobin (HbF) accretion is an important approach for the treatment of sickle-cell anemia and β-thalassemia. HbF inducers have potential to reduce the clinical symptoms and blood transfusion dependence in the patients of β-hemoglobinopathies.

Objectives: Current study was aimed to examine the erythroid induction potential of newly synthesized thiourea derivatives. Read More

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http://dx.doi.org/10.2174/1573406416666200514085623DOI Listing

Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies.

Hum Mol Genet 2020 May 14. Epub 2020 May 14.

Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institutes (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland (MD).

Genome editing to correct a defective β-globin gene or induce fetal globin (HbF) for patients with beta-hemoglobinopathies has the potential to be a curative strategy available to all. HbF reactivation has long been an area of intense interest given HbF inhibition of sickle hemoglobin (HbS) polymerization. Patients with HbS who also have high HbF tend to have less severe or even minimal clinical manifestations. Read More

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http://dx.doi.org/10.1093/hmg/ddaa088DOI Listing

miR-30a regulates γ-globin expression in erythoid precursors of intermedia thalassemia through targeting BCL11A.

Mol Biol Rep 2020 May 13;47(5):3909-3918. Epub 2020 May 13.

Stem Cell and Tissue Engineering Research Center, Shahroud University of Medical Sciences, Shahroud, Iran.

Patients with β-thalassemia suffer from a lack or absence of the beta-globin chain of normal hemoglobin (Hb). Therefore, an increase in fetal Hb (HbF) levels could improve the clinical status of these patients. Downregulation of BCL11A, a key regulatory transcription factor, could ameliorate the clinical status of thalassemic patients by increasing HbF levels. Read More

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http://dx.doi.org/10.1007/s11033-020-05483-7DOI Listing

βT87Q-Globin Gene Therapy Reduces Sickle Hemoglobin Production, Allowing for Anti-sickling Activity in Human Erythroid Cells.

Mol Ther Methods Clin Dev 2020 Jun 18;17:912-921. Epub 2020 Apr 18.

Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institutes (NHLBI)/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, MD, USA.

Lentiviral addition of βT87Q-globin, a modified β-globin with an anti-sickling mutation, is currently being used in gene therapy trials for sickle cell disease (SCD) and β-thalassemia patients. βT87Q-globin interferes with sickle hemoglobin (HbS) polymerization. Here, we generated the SCD mutation in an immortalized human erythroid cell line (HUDEP-2) to investigate the anti-sickling activity of βT87Q-globin. Read More

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http://dx.doi.org/10.1016/j.omtm.2020.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210457PMC

A therapy for β-thalassemia.

Authors:
Hannah Stower

Nat Med 2020 May;26(5):649

Nature Medicine, .

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http://dx.doi.org/10.1038/s41591-020-0906-4DOI Listing

The role of MRA in pediatric sickle cell disease with normal transcranial Doppler imaging velocities.

J Stroke Cerebrovasc Dis 2020 May 10:104864. Epub 2020 May 10.

Pediatric Neuroradiology and Image Guided Therapy, Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, Toronto M5G 1H4, ON, Canada.

Purpose: The purpose of this study was to determine the additional information provided by Magnetic Resonance Angiography (MRA) in pediatric sickle cell disease (SCD) patients with normal Transcranial Doppler imaging (TCDI) examinations.

Methods: This cohort study included all pediatric SCD patients over an 18-year period who had no history of stroke and had normal TCDI examinations and subsequently underwent MRA. Routine TCDI inclusive of time-averaged mean of maximum velocities (TAMMV) were assesses and compared with tortuosity on MRA and silent infarct on MRI. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2020.104864DOI Listing

Distribution of Red Blood Cell Alloantibodies Among Transfusion-Dependent β-Thalassemia Patients in Different Population of Iran: Effect of Ethnicity.

Hemoglobin 2020 Jan;44(1):31-36

Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.

The best approach for prevention of alloimmunization in β-thalassemia (β-thal) patients is perfect matching of all red blood cell (RBC) antigens associated with clinically significant antibodies, but this is expensive and may limit the blood supply. Knowing the most common alloantibodies in transfusion-dependent β-thal patients make it possible to establish more cost-effective matching strategies for high-risk antigens. With this in mind, we intended to determine the most common alloantibodies in different parts of Iran. Read More

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http://dx.doi.org/10.1080/03630269.2019.1709205DOI Listing
January 2020

Role of Extrinsic Apoptotic Signaling Pathway during Definitive Erythropoiesis in Normal Patients and in Patients with β-Thalassemia.

Int J Mol Sci 2020 May 8;21(9). Epub 2020 May 8.

Research and Development Center, Regional Specialist Hospital, Kamieńskiego 73a, 51-154 Wroclaw, Poland.

Apoptosis is a process of programmed cell death which has an important role in tissue homeostasis and in the control of organism development. Here, we focus on information concerning the role of the extrinsic apoptotic pathway in the control of human erythropoiesis. We discuss the role of tumor necrosis factor α (TNFα), tumor necrosis factor ligand superfamily member 6 (FasL), tumor necrosis factor-related apoptosis-inducing (TRAIL) and caspases in normal erythroid maturation. Read More

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http://dx.doi.org/10.3390/ijms21093325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246929PMC

Assessment of Atherosclerosis in Peripheral and Central Circulation in Adult β Thalassemia Intermedia Patients by Color Doppler Ultrasound: Egyptian Experience.

J Vasc Res 2020 May 12:1-7. Epub 2020 May 12.

Clinical Hematology Unit, Internal Medicine Department, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt,

Background: Atherosclerosis has been extensively studied in thalassemia major (TM) and sickle cell disease but not yet in β thalassemia intermedia (TI). Previous studies concerned with TM were performed in children. TI patients usually live longer and, thus, are more prone to complications of atherosclerosis. Read More

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http://dx.doi.org/10.1159/000506518DOI Listing

Cost-Utility Analysis of four Chelation Regimens for β-thalassemia Major: a Chinese Perspective.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020029. Epub 2020 May 1.

Department of Pharmacy, The Second Affiliated Hospital of Chengdu Medical College, China National Nuclear Corporation 416 Hospital, Chengdu, Sichuan, China.

Objective: The Iron chelation is essential to prevent iron overload damage of vital organs, like heart, liver, and endocrine glands, in patients with transfusion-dependent thalassemia. The most common chelation regimens for β-thalassemia major (β-TM) patients used in China are a combination therapy of deferoxamine and deferiprone (DFO+DFP), deferoxamine (DFO) monotherapy, deferiprone (DFP) monotherapy and deferasirox (DFX) monotherapy. Such patients use iron chelators their whole lives, resulting in enormous treatment costs. Read More

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http://dx.doi.org/10.4084/MJHID.2020.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202351PMC

Thalidomide for Patients with β-Thalassemia: A Multicenter Experience.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020021. Epub 2020 May 1.

Department of Hematology, The 923 Hospital of the Joint Logistics Support Force of the Peoples Liberation Army, Nanning, China.

Objective: This study focused on the efficacy and safety of thalidomide for patients with β-thalassemia in a multicenter trial.

Methods: Patients with non-transfusion-dependent thalassemia (NTDT) or transfusion-dependent thalassemia (TDT), who were unable to pursue conventional therapy with transfusion and chelation, were recruited over 3 years in three centers in southern China. We evaluated the efficacy and safety of thalidomide in the short-term (three months) and long-term follow-up (12 and 24 months). Read More

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http://dx.doi.org/10.4084/MJHID.2020.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202343PMC

β-Thalassemia pathogenic variants in a cohort of children from the East African coast.

Mol Genet Genomic Med 2020 May 11:e1294. Epub 2020 May 11.

KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya.

Background: β-Thalassemia is rare in sub-Saharan Africa. Previous studies have suggested that it is limited to specific parts of West Africa. Based on hemoglobin A (HbA ) concentrations measured by HPLC, we recently speculated that β-thalassemia might also be present on the East African coast of Kenya. Read More

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http://dx.doi.org/10.1002/mgg3.1294DOI Listing

The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.

Blood Cells Mol Dis 2020 Apr 26;84:102442. Epub 2020 Apr 26.

Department of Hematology, The 923(rd) Hospital of the Joint Logistics Support Force of the People's Liberation Army, Nanning, China. Electronic address:

Thalidomide has been shown to reactivate fetal hemoglobin (HbF) production and reduce the need for blood transfusions in β-thalassemia patients. However, some patients show a minor response or no response to thalidomide. In view of its potential side effects, targeted prescription of thalidomide is imperative. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102442DOI Listing

Nephrectomy Does not Exacerbate Cancellous Bone loss in Thalassemic Mice.

Sci Rep 2020 May 8;10(1):7786. Epub 2020 May 8.

Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand.

Patients with β-thalassemia have an increased risk of developing chronic kidney disease which is associated with osteoporosis and periodontitis. The purpose of this study was to evaluate mandibular and femoral bone change in heterozygous β-globin knockout (BKO) mice following 5/6 nephrectomy (Nx). Female and male BKO mouse blood smears demonstrated microcytic hypochromic anemia. Read More

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http://dx.doi.org/10.1038/s41598-020-64681-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210954PMC