16,150 results match your criteria Thalassemia Beta


Hb Westport [β121 (GH4) Glu>Asp; HBB:c.366A>C]: A novel β-globin variant interfering with HbA1c measurement.

Clin Biochem 2022 May 14. Epub 2022 May 14.

Specialist Biochemistry, Canterbury Health Laboratories, PO Box 151, Christchurch 8140, New Zealand; Department of Pathology, University of Otago, PO Box 4345, Christchurch 8140, New Zealand. Electronic address:

Objectives: To describe a novel β-globin variant that interferes with HbA1c analysis by cation exchange HPLC.

Design And Methods: Diabetes screening by HbA1c measurement was assessed using cation exchange HPLC and an immunoassay point-of-care analyzer. Routine hemoglobinopathy screening was performed including CBC, HbF and HbA measurement by cation exchange HPLC and capillary electrophoresis (CE). Read More

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IVS I-5 (G > C) is associated with changes to the RBC membrane lipidome in response to hydroxyurea treatment in β-thalassemia patients.

Mol Omics 2022 May 17. Epub 2022 May 17.

Dr.Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi-75270, Pakistan.

The red blood cell membrane loses its integrity during hemoglobinopathies like β-thalassemia and sickle cell disease. Various mutations have been associated with β-thalassemia, the most prevalent of which is the IVS-1-5 (G > C) mutation. It is associated with poor prognosis of the disease with a dependency on transfusion. Read More

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Analysis of circRNAs and circRNA-associated competing endogenous RNA networks in β-thalassemia.

Sci Rep 2022 May 16;12(1):8071. Epub 2022 May 16.

NHC Key Laboratory of Thalassemia Medicine, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

The involvement of circRNAs in β-thalassemia and their actions on fetal hemoglobin (HbF) is unclear. Here, the circRNAs in β-thalassemia carriers with high HbF levels were comprehensively analyzed and compared with those of healthy individuals. Differential expression of 2183 circRNAs was observed and their correlations with hematological parameters were investigated. Read More

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Diagnostic Dilemma of Hemoglobinopathies Using High Performance Liquid Chromatography Alone: A Case Report from a Resource-Constrained Setting.

Hemoglobin 2022 May 16:1-4. Epub 2022 May 16.

Department of Haematology, Nil Ratan Sircar Medical College and Hospital, Sealdah, Kolkata, West Bengal, India.

Hemoglobinopathies are quite common in India, and multiple awareness and screening initiatives exist for detection of thalassemia in the population. One of the most common and successfully used method for thalassemia screening is the high performance liquid chromatography (HPLC) test. However, in spite of its excellent usefulness as a screening tool, there are situations where HPLC alone may not be able to make an accurate diagnosis. Read More

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A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (: c.151A>T) mutation ].

Hemoglobin 2022 May 16:1-4. Epub 2022 May 16.

Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, People's Republic of China.

β-Thalassemia (β-thal) is caused by mutations on the β-globin genes, causing reduced (β) or absent (β) synthesis of the β chains of hemoglobin (Hb). In this report, a 28-year-old male patient with anemia and jaundice, was diagnosed with triple-heterozygous β-thal [an IVS-II-654 (C>T) mutation, a Hb Zürich-Langstrasse (: c.151A>T) mutation and a Hb G-Siriraj (: c. Read More

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Hematological Parameters in Individuals with Beta Thalassemia Trait in South Sumatra, Indonesia.

Anemia 2022 5;2022:3572986. Epub 2022 May 5.

Department of Child Health, Faculty of Medicine University Indonesia, Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Background: -Thalassemia has a very wide clinical variation, depending on the severity of the patient's condition. Individuals with -thalassemia traits are usually asymptomatic; however, laboratory examination will show mild anemia with microcytic hypochromic erythrocytes morphology with wide variation depending on the genotype. This study was conducted to determine the reference value of hematological parameters and hemoglobin (Hb) analysis based on the phenotype of -thalassemia ( and ) and determine the differences of hematological characteristics between the two phenotypes. Read More

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Multifocal extramedullary hematopoiesis in a 15-year-old girl with beta thalassemia: A case report.

Radiol Case Rep 2022 Jul 5;17(7):2315-2319. Epub 2022 May 5.

Pediatric Radiology Department, Rabat Children's Hospital, Ibn Sina Hospital, Mohamed V University, Rabat, Morocco.

Extramedullary hematopoiesis is a rare disorder in which hematopoietic cells proliferate in tissues other than the bone marrow as a result of a range of hematologic illnesses. Our case is unique in that it covers a number of extramedullary hematopoiesis sites in a 15-year-old girl, some of which are uncommon. Read More

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Estimation of prevalence of red cell alloantibodies in patients with Beta Thalassaemia Major in Sri Lanka.

Ceylon Med J 2021 06;66(2):96-99

National Blood Transfusion Service, Ministry of Health, Sri Lanka.

Background And Objectives: Major beta thalassaemia is an inherited haemolytic disease that needs regular blood transfusion as a standard treatment. Blood transfusion is generally safe; however, adverse effects can occur and one of which is red cell alloimmunization that can lead to acute or delayed haemolytic transfusion reactions. This study was designed to estimate the prevalence of red cell alloantibodies in patients with thalassaemia in Sri Lanka. Read More

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Prime Editor 3 Mediated Beta-Thalassemia Mutations of the Gene in Human Erythroid Progenitor Cells.

Int J Mol Sci 2022 Apr 30;23(9). Epub 2022 Apr 30.

State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai 200438, China.

Recently developed Prime Editor 3 (PE3) has been implemented to induce genome editing in various cell types but has not been proven in human hematopoietic stem and progenitor cells. Using PE3, we successfully installed the beta-thalassemia (beta-thal) mutations in the HBB gene in the erythroid progenitor cell line HUDEP-2. We inserted the reporter gene cassette into editing plasmids, each including the prime editing guide RNA (pegRNA) and nick sgRNA. Read More

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Dysregulated Serum Cytokine Production in Pediatric Patients with β-Thalassemia Major.

Hemoglobin 2022 May 13:1-6. Epub 2022 May 13.

Department of Biochemistry and Molecular Biology, GMU-GIBH Joint School of Life Sciences, Guangzhou Medical University, Guangzhou, Guangdong Province, People's Republic of China.

β-Thalassemia major (β-TM) is an inherited disorder of hemoglobin (Hb) production, which can cause severe anemia. A compromised immune system has been observed in patients with β-TM, whereas cytokines have a major role in immune modulation. Interleukin-4 (IL-4), IL-8, IL-13 and transforming growth factor-β (TGF-β) are critical in initiating pro-inflammatory responses, and the serum levels of those cytokines may be involved in the pathophysiology of β-thalassemia (β-thal). Read More

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Characterization of a novel HBB:c.194dup variant of the -globin gene combined with six alpha genes.

J Int Med Res 2022 May;50(5):3000605221099013

Department of Clinical Laboratory, Ganzhou People's Hospital, Ganzhou, P. R. China.

β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was validated by Sanger sequencing. Read More

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The The use of oral glucose-lowering agents (GLAs) in β-thalassemia patients with diabetes: Preliminary data from a retrospective study of ICET-A Network.

Acta Biomed 2022 May 11;93(2):e2022162. Epub 2022 May 11.

15 First Department of Pediatrics, National Kapodistrian University of Athens, Greece.

Objective: The management of prediabetes and hyperglycemia is an increasingly important aspect of care in patients with thalassemia. In light of the limited evidence about the management of GD (glucose dysregulation) with glucose-lowering agents (GLAs), we have conducted a retrospective survey in TDT and NTDT patients with diabetes mellitus to collect more detailed information on GLA use in order to make preliminary recommendations.

Study Design And Method: A questionnaire was prepared and distributed to the tertiary thalassemia care Centers of ICET-A Network. Read More

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Expression, functional mechanism and therapy application of long noncoding RNA in thalassemia.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Feb;47(2):252-257

Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital/Affiliated Hospital of Fujian Medical University; Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou 350001.

β-thalassemia (β-thal) is one of the most common genetic diseases in the world, its pathogenesis is extremely complex and there is no effective treatment at present. The birth of children with moderate and severe β-thal brings economic pressure to families, social medical and health services. Long noncoding RNA (lncRNA) is a type of noncoding protein transcripts with a length greater than 200 nucleotides, which is involved in a variety of biological processes, such as cell proliferation, differentiation and chromosome variation and plays an important role in the epigenetic and post-transcriptional regulation of genes. Read More

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February 2022

Dynamic Thiol-Disulfide Homeostasis in Children With β-Thalassemia Trait.

Hemoglobin 2022 May 11:1-4. Epub 2022 May 11.

Department of Pediatric Hematology and Oncology, University of Healthy Sciences, Ankara Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey.

In children with β-thalassemia (β-thal) trait, tissue damage occurs with oxidative stress due to oxygen free radicals and reactive oxygen species (ROS) production. Dynamic thiol-disulfide homeostasis (DTDH) is one of the most important indicators showing the pro-oxidant/antioxidant status in the body. In this study, we aimed to examine the status of DTDH by measuring native thiol, disulfide, and total thiol levels in children with β-thal trait. Read More

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Strong Positive Dichlorophenolindophenol Precipitation Suggests Hb Dhonburi (or Hb Neapolis) (: c.380T>G) Inheritance in a Couple at Risk for Severe β-Thalassemia.

Hemoglobin 2022 May 11:1-3. Epub 2022 May 11.

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

Hb Dhonburi (also known as Hb Neapolis) (: c.380T>G) is an unstable hemoglobin (Hb) variant that cannot be detected by high performance liquid chromatography (HPLC) or capillary electrophoresis (CE) in routine laboratory diagnosis. This could lead to prenatal misdiagnosis unless a molecular analysis is applied. Read More

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Long-term effect of hematopoietic stem cell transplantation on the quality of life of patients with β-thalassemia major in Guangxi, China--A cross-sectional study.

Curr Stem Cell Res Ther 2022 May 9. Epub 2022 May 9.

Department of Stem Cell Transplantation, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Objective: The purpose of our study was to compare the quality of life (QOL) of patients with hematopoietic stem cell transplantation (HSCT) for more than 2 years for β-thalassemia major (β-TM) with that of β-TM patients with conventional therapy (blood infusion and iron chelation) and that of the general population.

Methods: This was a cross-sectional comparative study on the QOL of 225 β-TM patients treated with blood transfusion and iron-chelation therapy, 133 β-TM patients who had undergone HSCT or 270 age- and sex-matched healthy individuals from Guangxi, China. Child-self and parent-proxy reports of the PedsQL 4. Read More

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Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests.

Clin Lab 2022 May;68(5)

Background: Thalassemia carrier couples play an important role in increasing thalassemia patients. The study of thalassemia genotypes in carrier couples is also effective in improving genetic counseling for them. The aim of this study was to investigate the prevalence of thalassemia mutations and genotypes in couples. Read More

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Detection of Hb Yulin [β13(A10)Ala→Val, : c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.

Hemoglobin 2022 May 10:1-4. Epub 2022 May 10.

Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Autonomous Region, People's Republic of China.

We report a rare hemoglobin (Hb) variant on the β-globin gene, which was detected in a female from Yulin City, Guangxi Autonomous Region, People's Republic of China (PRC), during routine thalassemia screening. The Hb variant remained unnoticed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC), while an additional peak was observed by matrix-assisted laser desorption ionization-time-of-flight (MALDI-TOF) mass spectrometry (MS). DNA sequencing revealed the GC>GC substitution at codon 13 on the β-globin gene, causing a substitution of alanine to valine. Read More

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Evaluation of right and left ventricular function using speckle-tracking echocardiography in thalassemic patients.

Ann Pediatr Cardiol 2021 Oct-Dec;14(4):476-484. Epub 2022 Mar 25.

Department of Cardiology, Tanta University, Tanta, Egypt.

Background: Beta-thalassemia major is the most common chronic hemolytic anemia among children and adolescents across the world. Several studies have demonstrated that thalassemic patients who have preserved left ventricle systolic function could still have subtle systolic dysfunction. Among patients with beta-thalassemia, early detection of transfusion-induced myocardial iron loading and its intervention with aggressive chelation therapy may delay or reverse heart failure. Read More

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Development of a double shmiR lentivirus effectively targeting both BCL11A and ZNF410 for enhanced induction of fetal hemoglobin to treat β-hemoglobinopathies.

Mol Ther 2022 May 6. Epub 2022 May 6.

Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Harvard Stem Cell Institute, Harvard University, Boston, MA, USA. Electronic address:

A promising treatment for β-hemoglobinopathies is the de-repression of γ-globin expression leading to increased fetal hemoglobin (HbF) by targeting BCL11A. Here, we aim to improve a lentivirus vector (LV) containing a single BCL11A shmiR (SS) to further increase γ-globin induction. We engineered a novel LV to express two shmiRs simultaneously targeting BCL11A and the γ-globin repressor ZNF410. Read More

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A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.

Front Immunol 2022 19;13:891147. Epub 2022 Apr 19.

Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Sardinia has one of the lowest incidences of hospitalization and related mortality in Europe and yet a very high frequency of the Neanderthal risk locus variant on chromosome 3 (rs35044562), considered to be a major risk factor for a severe SARS-CoV-2 disease course. We evaluated 358 SARS-CoV-2 patients and 314 healthy Sardinian controls. One hundred and twenty patients were asymptomatic, 90 were pauci-symptomatic, 108 presented a moderate disease course and 40 were severely ill. Read More

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Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years.

Hemoglobin 2021 Sep 6;45(5):318-321. Epub 2022 May 6.

Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province, People's Republic of China.

β-Thalassemia (β-thal), one of the most common form of single-gene inheritable blood diseases in the world, is highly prevalent in southern China, especially in the Guangxi Zhuang Autonomous Region. To update the β-thal mutation spectrum in this region, we performed hematological and genetic analyses on 888 β-thal major (β-TM), β-thal intermedia (β-TI) and β-thal carrier patients, aged 0-15 years old, from different parts of Guangxi Province. We identified 55 genotypes and 18 β-thal mutations. Read More

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September 2021

Report of a Rare Case of Beta-Thalassemia Major With Subperiosteal Hematomas.

Cureus 2022 Apr 2;14(4):e23770. Epub 2022 Apr 2.

Surgery Department, Hamad Medical Corporation, Doha, QAT.

Beta-thalassemia represents a range of hemoglobinopathies that are a consequence of an impairment in the synthesis of beta-globin chains. They result in different degrees of hemolysis and ineffective erythropoiesis, depending on the underlying mutations. They can lead to severe complications mainly resulting from anemia. Read More

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Treatment with Hydroxyurea Leads to Fetal Hemoglobin Reactivation through and Genes: An Study.

Hemoglobin 2022 May 4:1-7. Epub 2022 May 4.

Cardiovascular Diseases Research Centre, Department of Molecular Medicine, Razi Hospital, Faculty of Medicine, BUMS, Birjand, Iran.

Hydroxyurea (HU) is an effective drug to increase fetal γ-globin gene (Hb F) expression, replacing the missing adult β-globin gene. The mechanism of Hb F induction by HU and improvement in clinical symptoms are still poorly understood. The current study aimed to improve the molecular understanding of drug-induced alterations and reveals genes related to HU treatment responsiveness in β-thalassemia (β-thal). Read More

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Hypothyroidism in children with Hb E/β-thalassemia compared between those who received regular transfusion and those who underwent hematopoietic stem cell transplantation.

Pediatr Hematol Oncol 2022 May 2:1-13. Epub 2022 May 2.

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

The studies of hypothyroidism in children with transfusion-dependent hemoglobin E/β-thalassemia (TDT), especially in those who underwent hematopoietic stem cell transplantation (HSCT) are limited. We performed a longitudinal retrospective analysis of thyroid function test (TFT) results among TDT patients aged <25 years who received regular transfusion compared to those who underwent HSCT in Faculty of Medicine Siriraj hospital, Thailand during October 2003 to March 2019. Fifty patients (23 TDT, 27 HSCT) were included. Read More

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Implications of β-thalassemia on oral health status in patients: A cross-sectional study.

J Family Med Prim Care 2022 Mar 10;11(3):1174-1178. Epub 2022 Mar 10.

Department of Oral and Maxillofacial Pathology, Patna Dental College and Hospital, Patna, Bihar, India.

Background: β-Thalassemia is a chronic disease of autosomal recessive origin that is identified by the presence of a severe form of anemia. This hematological disease has been shown to directly influence a person's physical as well as psychological well-being along with their families.

Aim: This study aimed to find an association between dental health status and oral health-related quality of life (QoL) among children who have been diagnosed with β-thalassemia. Read More

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New Insights Into Pathophysiology of β-Thalassemia.

Front Med (Lausanne) 2022 12;9:880752. Epub 2022 Apr 12.

Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.

β-thalassemia is a disease caused by genetic mutations including a nucleotide change, small insertions or deletions in the β-globin gene, or in rare cases, gross deletions into the β-globin gene. These mutations affect globin-chain subunits within the hemoglobin tetramer what induces an imbalance in the α/β-globin chain ratio, with an excess of free α-globin chains that triggers the most important pathogenic events of the disease: ineffective erythropoiesis, chronic anemia/chronic hypoxia, compensatory hemopoietic expansion and iron overload. Based on advances in our knowledge of the pathophysiology of β-thalassemia, in recent years, emerging therapies and clinical trials are being conducted and are classified into three major categories based on the different approach features of the underlying pathophysiology: correction of the α/β-globin disregulation; improving iron overload and reverse ineffective erythropoiesis. Read More

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Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.

Reprod Biol Endocrinol 2022 Apr 30;20(1):75. Epub 2022 Apr 30.

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.

Background: This study aimed to evaluate the ability of next-generation sequencing (NGS) to conduct preimplantation genetic testing (PGT) for thalassemia using affected embryos.

Methods: This study included data from 36 couples who underwent PGT for thalassemia without probands and relative pedigrees. NGS results were compared with prenatal diagnosis results. Read More

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Health-related quality of life in pediatric patients with β-thalassemia major after hematopoietic stem cell transplantation.

Bone Marrow Transplant 2022 Apr 29. Epub 2022 Apr 29.

The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530021, PR China.

Our main purpose was to evaluate health-related quality of life (HRQOL) in β-thalassemia major patients who underwent transplantation from September 2012 to November 2019. The PedsQL 4.0 scale proxy version was administered to 221 transplant patients aged 5-18 years. Read More

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Dilemma of identifying congenital hemolytic anemias in primary care.

J Am Assoc Nurse Pract 2022 May 1;34(5):698-700. Epub 2022 May 1.

Associate Dean for Academic Affairs, Daniel K. Inouye Graduate School of Nursing, Bethesda, Maryland.

Abstract: Anemia, the overall reduction of red blood cell (RBC) mass in an individual, occurs as a result of an underlying condition. It is probably the most common pathological state worldwide and can be acute, chronic, congenital, or acquired. It can be placed in one of three broad categories: blood loss, hypoproliferative, and hemolytic. Read More

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