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BMC Ophthalmol 2022 Jun 24;22(1):279. Epub 2022 Jun 24.

Poostchi Ophthalmology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Structural ophthalmologic findings have been reported in patients with β-thalassemia due to chronic anemia, iron overload, and iron chelation therapy toxicity in few previous studies. We aimed to investigate structural ocular findings and their relationship with hematological parameters in patients with transfusion-dependent β-thalassemia (TDT).

Methods: In this cross-sectional study, from January 2018 to January 2019, 39 patients with TDT over the age of 18 participated. Read More

Curr Pediatr Rev 2022 Jun 24. Epub 2022 Jun 24.

Pediatric Department, Faculty of Medicine, Mansoura University, Egypt.

Background & Aim of the work: β-Thalassemia (βT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening of βT carriers among Egyptian high school students in the Delta region. Read More

Pharmaceuticals (Basel) 2022 Jun 16;15(6). Epub 2022 Jun 16.

Department of Internal Medicine, Division of Hematology-Oncology, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.

A significant amount of attention has recently been devoted to the mechanisms involved in hemoglobin (Hb) switching, as it has previously been established that the induction of fetal hemoglobin (HbF) production in significant amounts can reduce the severity of the clinical course in diseases such as β-thalassemia and sickle cell disease (SCD). While the induction of HbF using lentiviral and genome-editing strategies has been made possible, they present limitations. Meanwhile, progress in the use of pharmacologic agents for HbF induction and the identification of novel HbF-inducing strategies has been made possible as a result of a better understanding of γ-globin regulation. Read More

Molecules 2022 Jun 20;27(12). Epub 2022 Jun 20.

Maternal and Child Health Affiliated Hospital of Nanchang University, Nanchang 330006, China.

Traditional analytical methods for thalassemia screening are needed to process complicated and time-consuming sample pretreatment. In recent decades, ambient mass spectrometry (MS) approaches have been proven to be an effective analytical strategy for direct sample analysis. In this work, we applied ambient MS with wooden-tip electrospray ionization (WT-ESI) for the direct analysis of raw human blood samples that were pre-identified by gene detection. Read More

Genes (Basel) 2022 May 27;13(6). Epub 2022 May 27.

Unit of Excellence in Integrative Molecular Biomedicine, Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand.

The interactions of δ-globin variants with α- and β-thalassemia or other hemoglobinopathies cause complex thalassemic syndromes and potential diagnostic problems. Understanding the molecular basis and phenotypic expression is crucial. Four unrelated Thai subjects with second hemoglobin (Hb) A fractions were studied. Read More

Biology (Basel) 2022 Jun 4;11(6). Epub 2022 Jun 4.

Regional Centre of Advanced Technologies and Materials, Department of Physical Chemistry, Faculty of Science, Palacky University, Šlechtitelů 27, 783 71 Olomouc, Czech Republic.

Beta (β)-thalassemia is a group of human inherited abnormalities caused by various molecular defects, which involves a decrease or cessation in the balanced synthesis of the β-globin chains in hemoglobin structure. Traditional treatment for β-thalassemia major is allogeneic bone marrow transplantation (BMT) from a completely matched donor. The limited number of human leukocyte antigen (HLA)-matched donors, long-term use of immunosuppressive regimen and higher risk of immunological complications have limited the application of this therapeutic approach. Read More

Ann Med Surg (Lond) 2022 Jun 18;78:103826. Epub 2022 May 18.

Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga - Dr Soetomo General Academic Hospital, Surabaya, Indonesia.

Background: β-thalassemia is a hereditary disorder characterized by a decrease in the synthesis of β-globin chains that decreases hemoglobin in erythrocytes, low erythrocyte production, and anemia.

Case Presentation: A 6-year-old girl came with complaints of paleness for one week. Physical examination showed vital signs within normal limits, conjunctival anemia, and hepatomegaly. Read More

Ital J Pediatr 2022 Jun 20;48(1):105. Epub 2022 Jun 20.

School of Medicine, Department of Biochemistry, Mustafa Kemal University, Hatay, Turkey.

Background: Beta thalassemia major (β-TM) is a common cause of skeletal morbidity and is associated with increased bone fracture risk, particularly in inadequately transfused children. The aim of this study was to investigate some potential biochemical markers as possible early predictors of BMD variations in children with β-TM.

Methods: The study included 38 children with β-TM and 40 sex-age matched controls. Read More

Eur J Radiol 2022 Jun 15;154:110412. Epub 2022 Jun 15.

Department of radiodiagnosis, Faculty of medicine, Alexandria University, Egypt.

Purpose: To evaluate the diagnostic accuracy of the dual gradient-echo (GRE) in- and out-of-phase sequences as a quantitative tool for hepatic iron overload in comparison with MRI R2* relaxometry in paediatric patients with beta-thalassemia.

Method: Sixty-three patients with beta-thalassemia major (transfusion-dependent) or beta-thalassemia intermedia (transfusion- and non-transfusion-dependent) were referred from the paediatric department (haematology unit) to the radiology department at a university hospital. The paediatrician conducted a clinical examination for the studied group, assessed their laboratory data, conducted R2* relaxometry and dual gradient echo sequences to calculate R2* and relative signal intensity index at the axial mid-section of the liver, and studied their correlation. Read More

Med Pharm Rep 2022 Apr 28;95(2):152-157. Epub 2022 Apr 28.

Salah Aldeen Health Directorate, Clinical Biochemistry Unit, Tikrit, Iraq.

Background And Aims: Thalassemia is a condition that affects hemoglobin synthesis and is one of the most common hereditary illnesses in the world. Patients with thalassemia major require several blood transfusions. Multiple blood transfusions cause thyroid dysfunction, which leads to iron excess. Read More

Mol Biol Rep 2022 Jun 18. Epub 2022 Jun 18.

School of Medical Science and Technology, Indian Institute of Technology Kharagpur, Paschim Medinipur, Kharagpur, West Bengal, 721302, India.

β-thalassemia is a prevalent monogenic disorder characterized by reduced or absent synthesis of the β-globin chain. Although great effort has been made to ameliorate the disease severity of β-thalassemic patients, progress has been stymied due to limited understanding of the detailed molecular mechanism of disease pathogenesis. Recently, non-coding RNAs have been established as key players in regulating various physiological and pathological processes. Read More

Iran J Kidney Dis 2022 May;16(3):188-194

Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Egypt.

Introduction: Patients with β -thalassemia major (β -TM) had a high rate of glomerular dysfunction due to chronic anemia, iron overload, and chelation therapy. There is also evidence of proximal tubular damage, as almost all patients have various amounts of proteinuria. MicroRNAs are non-coding RNA molecules that regulate gene expression. Read More

J Trop Pediatr 2022 Jun;68(4)

Faculty of Medicine, Division of Ambulatory Pediatrics, Department of Pediatrics, Prince of Songkla University, Songkhla 90110, Thailand.

Objectives: To study the prevalence of anemia among healthy infants, and outcomes of giving a therapeutic trial of iron to anemic infants in thalassemia-endemic area.

Methods: A cross sectional study was conducted in 6-9-month-old, full-term healthy infants who attended the well child clinics at 2 tertiary care centers in southern Thailand. Complete blood count and serum ferritin were performed in every infant, and hemoglobin typing was performed only in anemic cases. Read More

BMC Pediatr 2022 Jun 15;22(1):344. Epub 2022 Jun 15.

Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Background: Iron overload (IO) is a complication in transfusion dependent beta thalassaemia (TDT). Pathogenic variants in genes involving iron metabolism may confer increased risk of IO. The objective of this study was to determine the magnitude of the cardiac and hepatic IO and determine whether pathogenic variants in HFE, SLC40A1 and TFR2 genes increase the risk of IO in a cohort of TDT patients in Sri Lanka. Read More

Arq Bras Cardiol 2022 Jun 10. Epub 2022 Jun 10.

Adana Health Practice and Research Center, Adana - Turquia.

Background: Abdominal aortic intima media thickness (A-IMT) may be an early marker of subclinical atherosclerosis and an objective indicator of increased oxidative stress in beta-thalassemia minor patients.

Objective: To evaluate whether aortic and carotid IMTs change with oxidative stress and to assess the relationship between these parameters in beta-thalassemia minor patients.

Methods: The study included 80 patients diagnosed with beta-thalassemia minor, and 50 healthy individuals with similar age and gender. Read More

Sci Rep 2022 Jun 14;12(1):9907. Epub 2022 Jun 14.

Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging. Long-range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized in this study could cover the entire HBA1, HBA2 and HBB genes, enabling the diagnosis of most of the common and rare types of thalassemia variants. Read More

Patient Prefer Adherence 2022 7;16:1423-1437. Epub 2022 Jun 7.

London North West University Healthcare NHS Trust, London, UK.

Thalassaemia is one of the commonest inherited genetic disorders world-wide with around 25,000 births of the most severely affected transfusion dependent children annually. Patients with transfusion dependent thalassaemia require regular blood transfusions to maintain life but because of this will develop iron overload. To remove the excess iron, patients are required to take iron chelation therapy (ICT). Read More

Sci Rep 2022 Jun 13;12(1):9762. Epub 2022 Jun 13.

Department of Hematology and Stem Cell Transplantation, West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

This monocentric study conducted at the Pediatric and Adult Hemoglobinopathy Outpatient Units of the University Hospital of Essen summarizes the results of hemoglobinopathies diagnosed between August 2018 and September 2021, prior to the introduction of a general newborn screening (NBS) for SCD in Germany (October 2021). In total, 339 patients (pts.), 182 pediatric [50. Read More

Pediatr Blood Cancer 2022 Jun 13:e29837. Epub 2022 Jun 13.

Department of Hematology, Zigong First People's Hospital, Zigong, China.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disease caused by a pathogenic G6PD mutation. An 8-year-old Chinese male child was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Genetic analysis unraveled co-inheritance of a hemizygous mutation c. Read More

Indian Pediatr 2022 Jun;59(6):445-446

Department of Pediatrics, PGIMSR and ESIC Model Hospital, Basaidarapur, New Delhi 110015.

Lancet 2022 06 9;399(10343):2310-2324. Epub 2022 Jun 9.

Department of Paediatric Heamatology and Oncology, Ege University School of Medicine, Izmir, Turkey.

Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin chain production, leading to ineffective erythropoiesis, increased haemolysis, and deranged iron homoeostasis. The clinical phenotype shows heterogeneity, ranging from close to normal without complications to severe requiring lifelong transfusion support. Read More

BMJ Case Rep 2022 Jun 10;15(6). Epub 2022 Jun 10.

Department of Gynaecological Ultrasound and Prenatal Diagnostics, Women' Hospital, University Hospital of Basel, Basel, Switzerland.

Solid masses of the ovaries raise the suspicion of malignancy or metastasis and require histological diagnosis. Extramedullary haematopoesis (EMH) is a rare histological finding of a mass of the adnexa. The sonographic pattern of EMH has rarely been described in the literature. Read More

Hemoglobin 2022 Jun 10:1-3. Epub 2022 Jun 10.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People's Republic of China.

We report a frameshift mutation in exon 3 of the β-globin gene that leads to a β-thalassemia (β-thal) intermedia (β-TI) phenotype in a 6-year-old Chinese boy. This novel mutation with deletion of the last nucleotide (-T) at codon 130 results in a β-globin chain that is extended to 156 amino acid residues. This study highlights the importance of considering dominantly inherited β-thal in the investigation of anemia, even in patients with ethnic backgrounds not usually associated with β-thal and hematologically normal parents. Read More

Int J Mol Sci 2022 May 25;23(11). Epub 2022 May 25.

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

Prime editing was used to insert and correct various pathogenic mutations except for beta-thalassemia variants, which disrupt functional beta-globin and prevent hemoglobin assembly in erythrocytes. This study investigated the effect of gene correction using prime editor version 3 (PE3) in a mouse model with the human beta-thalassemia IVS-II-654 mutation (C > T). The T conversion generates a 5' donor site at intron 2 of the beta-globin gene resulting in aberrant splicing of pre-mRNA, which affects beta-globin expression. Read More

Cells 2022 06 4;11(11). Epub 2022 Jun 4.

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 20892, USA.

Autologous hematopoietic stem cell (HSC)-targeted gene therapy provides a one-time cure for various genetic diseases including sickle cell disease (SCD) and β-thalassemia. SCD is caused by a point mutation (20A > T) in the β-globin gene. Since SCD is the most common single-gene disorder, curing SCD is a primary goal in HSC gene therapy. Read More

Clin Exp Pediatr 2022 Jun 7. Epub 2022 Jun 7.

Menoufia University, Shebin el kom, Egypt.

Background: Osteopenia and osteoporosis represent a prominent cause of morbidity in children with thalassemia. Multiple factors are responsible for the pathogenesis of bone loss in thalassemia, including diabetes, hypothyroidism, parathyroid gland dysfunction, accelerated hemopoiesis, direct iron toxicity of osteoblasts, iron chelators, and deficiencies of growth hormone or insulin growth factors.

Purpose: To assess the effect of pamidronate administration on β-thalassemia major-induced osteoporosis in children. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Jun;30(3):844-850

Clinical Gene and Cell Engineering Center, Beijing Shijitan Hospital, Capital Medical University, Beijing 100038, China,E-mail:

Objective: To provide a research basis for a safe and effective cell therapy for β-thalassemia through optimization of HS4 region of the third generation lentiviral vector for stable expression of β-globin.

Methods: The human β-globin HS4 region in the third generation lentiviral expression vector was optimized to construct the lenti-HBB, and the transcription and translation of β-globin gene were analyzed by RT-PCR and Western blot after the transduction of lenti-HBB in MEL cell line. Furthermore, the erythroid differentiation of CD34 cells which were transduced lentiviral virus carrying human β-globin from normal human umbilical cord blood cells and peripheral blood cells of patients with β-thalassemia major were confirmed by colony formation assay, cell smear assay and flow cytometry. Read More

G Ital Cardiol (Rome) 2022 Jun;23(6):477-480

U.O. Cardiologia, Azienda Ospedaliero-Universitaria di Ferrara, Ferrara.

Cardiovascular complications are among the main causes of mortality and morbidity in patients with thalassemia major. Iron-chelation therapy is essential to prevent the chronic iron overload linked to the need for transfusions and the consequent cardiac hemosiderosis. Despite the wide use of iron-chelation drugs, today it is still possible to find cases of severe iron accumulation. Read More

J Cardiovasc Echogr 2022 Jan-Mar;32(1):17-22. Epub 2022 Apr 20.

Department of Biostatistics and Epidemiology, School of Health, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Iron overload and cardiac dysfunctions are common complications in patients with thalassemia major (TM). Different imaging methods can be used to detect ventricular dysfunction in these patients. In this study, we aim to understand the value of tissue Doppler imaging (TDI) in the detection of myocardial dysfunction in patients with TM who have been diagnosed with iron overload using cardiovascular magnetic resonance CMRT2*. Read More

Blood Adv 2022 Jun 6. Epub 2022 Jun 6.

Center for RNA Science and Therapeutics, Case Western Reserve University, United States.

The fetal to adult hemoglobin switching around birth involves an expression shift from γ-globin to β-globin in erythroid cells. Effective re-expression of fetal γ-globin can ameliorate sickle cell anemia and β-thalassemia. Despite the physiological and clinical relevance of this switch, its post-transcriptional regulation is poorly understood. Read More