1,413 results match your criteria transfusion-dependent thalassemia


Association of the Degree of Erythroid Expansion and Maturation Arrest with the Clinical Severity of β0-Thalassemia/Hemoglobin E Patients.

Acta Haematol 2021 Sep 14:1-12. Epub 2021 Sep 14.

Institute of Molecular Biosciences, Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhonpathom, Thailand.

Introduction: β-Thalassemia/hemoglobin E represents one-half of all the clinically severe β-thalassemias worldwide. Despite similar genetic backgrounds, patients show clinical heterogeneity ranging from nearly asymptomatic to transfusion-dependent thalassemia. The underlying disease modifying factors remain largely obscure. Read More

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September 2021

Prognostic Value Evaluation of HLA-DRB1*07:01, *10, *12, *13:01 Alleles for Alloimmunization in Transfusion-Dependent Thalassemia.

Transfus Apher Sci 2021 Sep 6:103271. Epub 2021 Sep 6.

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

Background: Transfusion is a lifesaving treatment for lots of patients. However, in chronic blood recipients such as thalassemia patients, there are high concerns about alloantibody production that affects the quality of their life. Therefore, research on risk factors of alloimmunization has been started and followed. Read More

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September 2021

HSCT remains the only cure for patients with transfusion-dependent thalassemia until gene therapy strategies are proven to be safe.

Bone Marrow Transplant 2021 Sep 16. Epub 2021 Sep 16.

Stem Cell Transplant Unit, Aghia Sophia Children's Hospital, 1 Thivon Street, Athens, Greece.

Patients with β-thalassemia suffer from severe anemia, iron overload and multiple complications, that affect their quality of life and well-being. Allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-matched sibling donor, performed in childhood, has been the gold standard for thalassemic patients for decades. Unfortunately, siblings are available only for the minority of patients. Read More

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September 2021

Prenatal Diagnosis Leads to Early Diagnosis of Transfusion-Dependent Thalassemia and Better Growth Outcomes.

Glob Pediatr Health 2021 9;8:2333794X211046104. Epub 2021 Sep 9.

Chulalongkorn University, Bangkok, Thailand.

Thalassemia is the most common hematological transfusion-dependent disease in Thailand. Even though prenatal diagnosis (PND) can detect the condition, many new cases are diagnosed in pediatric practice. This study assessed the clinical outcome of patients with thalassemia who did PND. Read More

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September 2021

Glucose Metabolism and Insulin Response to Oral Glucose Tolerance Test (OGTT) in Prepubertal Patients with Transfusion-Dependent β-thalassemia (TDT): A Long-Term Retrospective Analysis.

Mediterr J Hematol Infect Dis 2021 1;13(1):e2021051. Epub 2021 Sep 1.

First Department of Paediatrics, National Kapodistrian University of Athens 11527, Greece.

Background: Glucose dysregulation (GD), including prediabetes and diabetes mellitus (DM), is a common complication of transfusion-dependent β-thalassemia (TDT) patients. The prevalence increases with age and magnitude of iron overload, affecting a significant proportion of patients. According to the international guidelines, the development of GD is frequently asymptomatic. Read More

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September 2021

Correlation of Transferrin Saturation and Serum Ferritin with Bone Mass Density in Adult Transfusion Dependent Beta-Thalassemia Patients.

J Blood Med 2021 9;12:827-832. Epub 2021 Sep 9.

Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia.

Background: The use of regular blood transfusions and iron chelation therapy to treat thalassemia has improved survival and increased the incidence of osteoporosis. Moreover, iron toxicity is one of the contributing factors that reduce bone mass density in adult transfusion-dependent beta-thalassemia patients. Therefore, this study aims to determine the proportion of low bone mass density in adult thalassemia patients and transferrin saturation, as well as serum ferritin, which correlates to the skeletal condition. Read More

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September 2021

Efficacy and safety of ruxolitinib in ineffective erythropoiesis suppression as a pretransplantation treatment for pediatric patients with beta-thalassemia major.

Pediatr Blood Cancer 2021 Sep 14:e29338. Epub 2021 Sep 14.

Department of Pediatric Hematology and Oncology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.

Background: Ineffective erythropoiesis (IE) is the most prominent feature of transfusion-dependent beta-thalassemia (TDT), which leads to extramedullary hemopoiesis. The rejection rate in allogeneic hematopoietic stem cell transplantation (HSCT) is high in heavily transfused patients with TDT accompanied by prominent IE. Therefore, a pretransplantation treatment bridging to HSCT is often used to reduce allosensitization and IE. Read More

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September 2021

Psychological intervention in children with transfusion-dependent β-thalassaemia.

Vox Sang 2021 Sep 10. Epub 2021 Sep 10.

Department of Radiation Oncology, Quanzhou First Hospital, Quanzhou, Fujian, China.

Background And Objectives: Transfusion-dependent β-thalassaemia can lead to severe psychological issues in paediatric and adolescent patients. However, the psychological interventions for these patients are limited in clinical practice. We aimed to investigate the impact of a 3-month psychological intervention on the quality of life (QOL) of children with β-thalassaemia (12-18 years old) who relied on blood transfusion in this study. Read More

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September 2021

[Thalassemia in Japan].

Authors:
Hideho Wada

Rinsho Ketsueki 2021 ;62(8):914-921

Department of Hematology, Kawasaki Medical School.

Thalassemia is caused by a reduced production of one globin chain due to a quantitative imbalance between the α-globin and non-α-globin chains that make up the hemoglobin. It is classified into α- and β-thalassemia and characterized by microcytosis with polycythemia, and a Mentzer index of ≤13 aids in the diagnosis. In the genetic analysis of α-thalassemia, the Southeast Asian type was found to be the most common genetic subtype among Japanese and non-Japanese without a substantial difference. Read More

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September 2021

Improving outcomes and quality of life for patients with transfusion-dependent β-thalassemia: recommendations for best clinical practice and the use of novel treatment strategies.

Expert Rev Hematol 2021 Sep 15:1-13. Epub 2021 Sep 15.

Fondazione IRCCS Ca' Granda Policlinico Hospital, University of Milan, Milan, Italy.

Introduction: β-thalassemia is one of the most common inherited monogenic diseases. Many patients are dependent on a lifetime of red blood cell (RBC) transfusions and iron chelation therapy. Although treatments have a significant impact on quality of life (QoL), life expectancy, and long-term health outcomes have improved in recent decades through safer RBC transfusion practices and better iron chelation strategies. Read More

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September 2021

A study of isolated hyperglycemia (blood glucose ≥155 mg/dL) at 1-hour of oral glucose tolerance test (OGTT) in patients with β-transfusion dependent thalassemia (β-TDT) followed for 12 years.

Acta Biomed 2021 09 2;92(4):e2021322. Epub 2021 Sep 2.

First Department of Paediatrics, National Kapodistrian University of Athens, Greece..

Objective: Subjects with normal glucose tolerance (NGT) but 1-hour post-load plasma glucose (1-h OGTT) ≥ 155 mg/dl (8.6 mmol/L; H-NGT) have an increased risk for developing Type 2 diabetes mellitus (T2DM), determining a new risk factor category with deeper metabolic impairment. The aim of this study was to evaluate the H-NGT as a diagnostic predictor of future dysglycemia in β-transfusion dependent thalassemia (β-TDT). Read More

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September 2021

The different patterns of insulin response during Oral Glucose Tolerance Test (OGTT) in transfused young patients with β-Thalassemia.

Acta Biomed 2021 09 2;92(4):e2021265. Epub 2021 Sep 2.

Endocrinology Unit "Aglaia Kyriakou" Children Hospital Athens Greece..

Background And Aim: Dysregulation of glucose metabolism is a common complication of transfusions in Transfusion Dependent Thalassemia (TDT) patients. For early diagnosis of glucose disturbances, screening is recommended. The age of starting and the type of screening vary; the more common methods are assessment of RPG, FPG, 2h PG and 2 hours OGTT. Read More

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September 2021

Coadministration of silymarin with iron chelators in transfusion-dependent β-thalassemia patients: a systematic review and meta-analysis for effect on iron overload.

Expert Rev Clin Pharmacol 2021 Sep 6:1-9. Epub 2021 Sep 6.

Thalassemia Research Center (TRC), Hemoglobinopathy Institute, Faculty of Medicine, Mazandaran University of Medical, Sari, Iran.

: We conducted a systematic review to apprise the efficacy of silymarin in conjunction with standard iron chelators on iron overload for transfusion-dependent β-thalassemia (TDT) patients.: We searched PubMed, Web of Science, Scopus, Sciencedirect, the Cochrane Library (the Cochrane Database of Systematic Reviews, and the Cochrane Central Register of Controlled Trials (CENTRAL) to 1 May 2020. All randomized controlled trials (RCTs) studies comparing the effect of iron chelators alone versus silymarin plus standard routine treatment on iron burden amid TDT were included in this review. Read More

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September 2021

Quality of Life and Related Paraclinical Factors in Iranian Patients with Transfusion-Dependent Thalassemia.

J Environ Public Health 2021 18;2021:2849163. Epub 2021 Aug 18.

Hematologist-Oncologist, Faculty Member, Department of Internal Medicine, Alborz University of Medical Sciences, Karaj, Iran.

Background: Thalassemia is one of the most common genetic hematologic disorders in the world. Despite outstanding achievements in prenatal diagnosis and a decrease in the number of patients, thalassemia is still a significant issue in most parts of the world, especially in the Mediterranean countries. Understanding the factors associated with this condition is crucial to help clinicians and policymakers provides social and medical support for patients to facilitate their lives. Read More

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Efficacy of Thalidomide Treatment in Children With Transfusion Dependent β-Thalassemia: A Retrospective Clinical Study.

Front Pharmacol 2021 12;12:722502. Epub 2021 Aug 12.

Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Thalidomide has been reported as a promising treatment for reducing transfusion volume in adults with β-thalassemia. However, the evidence about the safety and efficacy of thalidomide on children with transfusion dependent β-thalassemia (TDT) is scarce. Seventy-seven children with TDT treated with thalidomide at least for 6 months were included and retrospectively analyzed. Read More

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Circulating miRNAs and tissue iron overload in transfusion-dependent β-thalassemia major: novel predictors and follow-up guide.

Ann Hematol 2021 Aug 25. Epub 2021 Aug 25.

Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Tissue iron overload is a life-threatening scenario in children with transfusion-dependent β-thalassemia major, miRNAs that are involved in iron hemostasis could serve as therapeutic targets for control of iron overload. We aimed to find out the association between three iron-related miRNAs "miR-let-7d, miR-122, and miR-200b" and excess iron in tissues, in transfusion-dependent β-thalassemia major patients. Circulating miRNA expressions are measured in peripheral blood (PB) samples using qPCR of transfusion-dependent (TDT) β-thalassemia patients (n = 140) and normalized to non-transfusion-dependent (NTDT) β-thalassemia (n = 45). Read More

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The Correlation Between Iron Overload and Endocrine Function in Adult Transfusion-Dependent Beta-Thalassemia Patients with Growth Retardation.

J Blood Med 2021 17;12:749-753. Epub 2021 Aug 17.

Endocrine and Metabolic Division, Department of Internal Medicine, Dr. Cipto Mangunkusumo General Hospital/Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia.

Background: Iron overload is a major problem in patients with transfusion-dependent beta-thalassemia (TDT). Reports on the correlation between iron overload and endocrine function with growth retardation in such a population in Indonesia have not been established. Therefore, this study aims to obtain a profile of iron load and endocrine function of adult transfusion dependent beta-thalassemia patients and their correlation with growth retardation. Read More

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Quality of Life and Related Factors in β-Thalassemia Patients.

Hemoglobin 2021 Aug 19:1-5. Epub 2021 Aug 19.

Department of Epidemiology, School of Public Health and Safety, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

The β-thalassemias are a group of genetic disorders defined by decreased levels of functional hemoglobin (Hb). In light of pivotal improvements in patient survival, the load of consistent treatment harms patients' quality of life (QOL). This study aimed to determine the QOL in patients with β-thalassemia (β-thal) in Iran and identify associated factors. Read More

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Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the I Polymorphism.

Genet Test Mol Biomarkers 2021 Aug;25(8):563-570

Molecular Biology and Human Genetics Laboratory, Department of Zoology, The University of Burdwan, Burdwan, India.

HbE/β-thalassemia is the most prevalent form of severe β-thalassemia in Asian countries. Hydroxyurea (HU) is the most common drug used for the management of sickle-cell anemia but not thalassemia. In this study, we aimed to assess clinical HU response among the Bengali HbE/β-thalassemia patients with respect to the I γglobin polymorphism and elucidate the association between this polymorphism and HU response efficacy. Read More

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Luspatercept for β-thalassemia: beyond red blood cell transfusions.

Expert Opin Biol Ther 2021 Aug 23:1-9. Epub 2021 Aug 23.

Department of Clinical Science and Community, University of Milan, Milan, Italy.

Introduction: Red blood cell transfusions and iron chelation therapy are the cornerstone of treatment for β-thalassemia, with allogeneic hematopoietic stem cell transplantation and gene therapy offering further disease-management options for eligible patients. With up to 90% of severe cases of β-thalassemia occurring in resource-constrained countries, and estimates indicating that 22,500 deaths occur annually as a direct consequence of undertransfusion, provision of adequate treatment remains a major issue.

Areas Covered: In this review, we provide an overview of luspatercept, a first-in-class erythroid maturation agent, and present the available clinical data related to the treatment of β-thalassemia. Read More

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IVS-II-16 (G>C) (: c.315+16G>C) or IVS-II-666 (C>T) (: c.316-185C>T) Mutations Trigger an Hb S (: c.20A>T)/β-Thalassemia Phenotype in an Hb S Trait Patient.

Hemoglobin 2021 Aug 16:1-3. Epub 2021 Aug 16.

Department of Pediatric Hematology-Oncology, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey.

Sickle cell trait is a medical condition caused by the presence of both mutant Hb S (: c.20A>T) and normal Hb A alleles. Although sickle cell trait is typically considered to be asymptomatic and benign, genetic modifiers and mutations can lead to severe clinical complications. Read More

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Exploring the potential utilities of 99mTc-labeled RBC-equilibrium radionuclide angiocardiography in transfusion-dependent β-thalassemia major patients.

Nucl Med Commun 2021 Aug 9. Epub 2021 Aug 9.

Departments of Nuclear Medicine Internal Medicine Radiodiagnosis and Imaging Cardiology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Aims: 99mTc-labeled RBC-equilibrium radionuclide angiocardiography (ERNA) is done in transfusion-dependent beta-thalassemia major (β-TM) patients routinely for cardiac dysfunction. This prospective study aimed at evaluating the potential of ERNA in demonstrating the bone marrow hyperplasia as an adjunct biomarker for monitoring the adequacy of blood transfusions in transfusion-dependent β-TM patients.

Materials And Methods: One hundred and twenty-six patients of β-TM (study group) and 30 nonthalassemic patients (control) underwent ERNA study with an additional whole-body imaging. Read More

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Long-term safety and efficacy of hydroxyurea in patients with non-transfusion-dependent β-thalassemia: a comprehensive single-center experience.

Ann Hematol 2021 Aug 12. Epub 2021 Aug 12.

Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Over the past 20 years, hydroxyurea (HU) has emerged as an effective therapeutic agent in thalassemic patients to improve anemia and decrease the transfusion dependency. We evaluated long-term safety and clinical response to HU in patients with non-transfusion-dependent β-thalassemia (NTDT). In this retrospective study, medical records of 181 patients with NTDT were evaluated during October to December 2020 in Southern Iran. Read More

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Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature.

J Clin Med 2021 Aug 2;10(15). Epub 2021 Aug 2.

Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Congenital anemias may be complicated by immune-mediated hemolytic crisis. Alloantibodies are usually seen in chronically transfused patients, and autoantibodies have also been described, although they are rarely associated with overt autoimmune hemolytic anemia (AIHA), a serious and potentially life-threatening complication. Given the lack of data on the AIHA diagnosis and management in congenital anemias, we retrospectively evaluated all clinically relevant AIHA cases occurring at a referral center for AIHA, hemoglobinopathies, and chronic hemolytic anemias, focusing on clinical management and outcome. Read More

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Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia.

Orphanet J Rare Dis 2021 Aug 5;16(1):349. Epub 2021 Aug 5.

Dipartimento della Donna, del Bambino e della Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli", Via L. De Crecchio 4, 80138, Naples, Italy.

Background: Sensorineural hearing loss in beta-thalassemia is common and it is generally associated with iron chelation therapy. However, data are scarce, especially on adult populations, and a possible involvement of the central auditory areas has not been investigated yet. We performed a multicenter cross-sectional audiological and single-center 3Tesla brain perfusion MRI study enrolling 77 transfusion-dependent/non transfusion-dependent adult patients and 56 healthy controls. Read More

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2021 update on clinical trials in β-thalassemia.

Am J Hematol 2021 Aug 4. Epub 2021 Aug 4.

Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

The treatment landscape for patients with β-thalassemia is witnessing a swift evolution, yet several unmet needs continue to persist. Patients with transfusion-dependent β-thalassemia (TDT) primarily rely on regular transfusion and iron chelation therapy, which can be associated with considerable treatment burden and cost. Patients with non-transfusion-dependent β-thalassemia (NTDT) are also at risk of significant morbidity due to the underlying anemia and iron overload, but treatment options in this patient subgroup are limited. Read More

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Oral ferroportin inhibitor vamifeport for improving iron homeostasis and erythropoiesis in β-thalassemia: current evidence and future clinical development.

Expert Rev Hematol 2021 Jul 29;14(7):633-644. Epub 2021 Jul 29.

Professor of Internal Medicine, Department of Clinical Sciences and Community, University of Milan, Milan, Italy.

Introduction: In β-thalassemia, imbalanced globin synthesis causes reduced red blood cell survival and ineffective erythropoiesis. Suppressed hepcidin levels increase ferroportin-mediated iron transport in enterocytes, causing increased iron absorption and potentially iron overload. Low hepcidin also stimulates ferroportin-mediated iron release from macrophages, increasing transferrin saturation (TSAT), potentially forming non-transferrin-bound iron, which can be toxic. Read More

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Efficacy and Safety of Thalidomide in Patients With Transfusion-Dependent Thalassemia.

Indian Pediatr 2021 Jul;58(7):611-616

Division of Pediatric Hematology, Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children Hospital, New Delhi.

Objective: To assess the efficacy and safety of thalidomide in children with transfusion-dependent thalassemia.

Methods: This prospective, single center, open-label study enrolled children aged 12-18 years, and who received thalidomide for a duration of 6 months at a starting dose of 2-3 mg/kg/day. Efficacy was assessed by reduction in transfusion requirement and rate of fall of hemoglobin. Read More

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Hb Calgary (: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Hemoglobin 2021 Jul 26:1-5. Epub 2021 Jul 26.

National Institute of Health Research (NIHR), Bristol Biomedical Research Centre (BRC), Oxford, UK.

We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molecular pathogenesis is a missense variation on the β-globin gene, presumed to lead to an unstable Hb. Read More

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Age as a major factor associated with zinc and copper deficiencies in pediatric thalassemia.

J Trace Elem Med Biol 2021 Jul 8;68:126817. Epub 2021 Jul 8.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Background: Patients with thalassemia encounter increased consumption of zinc (Zn) and copper (Cu) from chronic hemolysis and increased excretion from iron chelation. Iron-enriched diet restriction may result in low Zn and Cu intakes. Recent data on Zn and Cu status among Thai pediatric patients with thalassemia are lacking. Read More

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