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Mol Genet Genomic Med 2021 May 7:e1696. Epub 2021 May 7.

Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital, Dongguan, China.

Introduction: Patients with a homozygous β -thalassemia mutation usually have a transfusion-dependent β-thalassemia major phenotype. However, some β-thalassemia patients present with a relatively mild and even normal phenotype and always have a high level of Hb F induced by genetic modifiers.

Methods: In this study, we identified a homozygous β -thalassemia mutation (HBB: c. Read More

Int J Lab Hematol 2021 May 7. Epub 2021 May 7.

Institute of Clinical Medicine, University of Oslo, Norway.

Biomed Res Int 2021 16;2021:5560319. Epub 2021 Apr 16.

Department of Biochemistry and Molecular Biology, Working Group of Clinical Genetics, Faculty of Medicine, Universitas Padjadjaran, Bandung 40161, Indonesia.

Background: Iron overload in severe -thalassemia is a serious complication that occurs during the course of the disease. Information about the iron status during initial illness with -thalassemia major seemed to be limited. This study is aimed at analyzing iron status, serum hepcidin, and growth differentiation factor 15 (GDF15) levels in newly diagnosed -thalassemia major. Read More

J Paediatr Child Health 2021 May 5. Epub 2021 May 5.

School of Medicine and Health Sciences, University of Papua New Guinea, Port Moresby, Papua New Guinea.

Aim: Thalassaemia, the commonest genetic blood disorder in Papua New Guinea (PNG) presents daunting challenges for the affected children, their parents and families, and the health system. We aimed to describe the quality of life of affected children and adolescents and the experience of and difficulties faced by their parents in the setting of a tertiary referral hospital in PNG.

Methods: A mixed-methods longitudinal study involving baseline questionnaire, then serial interviews with parents, children and adolescents living with β-thalassaemia attending Port Moresby General Hospital. Read More

Hemoglobin 2021 May 5:1-6. Epub 2021 May 5.

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

β-Thalassemia (β-thal) is highly prevalent among the Mediterranean populations. In Lebanon, the carrier rate of the disease is estimated to be around 2.0-3. Read More

Annu Rev Genomics Hum Genet 2021 May 4. Epub 2021 May 4.

Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA; email:

I have been fortunate and privileged to have participated in amazing breakthroughs in human genetics since the 1960s. I was lucky to have trained in medical school at Dartmouth and Johns Hopkins, in pediatrics at the University of Minnesota and Johns Hopkins, and in genetics and molecular biology with Dr. Barton Childs at Johns Hopkins and Dr. Read More

Echocardiography 2021 May 4. Epub 2021 May 4.

Department of Cardiology, University of Health Sciences, Tepecik Training and Research Hospital, Izmir, Turkey.

Objective: Cardiovascular iron load is the leading cause of morbidity and mortality in beta-thalassemia major (β-TM). However, many patients remain asymptomatic until the late stage. In this cross-sectional study, we investigated the role of three-dimensional (3D) echocardiography and endothelial dysfunction parameters in asymptomatic β-TM patients, and the relationship between these parameters and cardiac magnetic resonance imaging (MRI) T2* value. Read More

Ann Integr Mol Med 2021 ;2:131-173

Division of Molecular Medicine, Children's Hospital, USA.

Molecular Biology, a branch of science established to examine the flow of information from "letters" encrypted into DNA structure to functional proteins, was initially defined by a concept of DNA-to-RNA-to-Protein information movement, a notion termed the Central Dogma of Molecular Biology. RNA-dependent mRNA amplification, a novel mode of eukaryotic protein-encoding RNA-to-RNA-to-Protein genomic information transfer, constitutes the extension of the Central Dogma in the context of mammalian cells. It was shown to occur in cellular circumstances requiring exceptionally high levels of production of specific polypeptides, e. Read More

Bone Marrow Transplant 2021 May 3. Epub 2021 May 3.

Laboratory of Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands.

The use of HLA-mismatched (un)related donors is historically associated with a higher incidence of transplant-related complications and mortality. However, the use of such donors may overcome the limited availability of HLA-matched donors for patients with β-thalassemia major (TM) and sickle cell disease (SCD). We investigated hematopoietic stem cell transplantation (HSCT) outcomes of pediatric TM and SCD patients treated with a mismatched donor using a treosulfan-based conditioning in combination with ATG and post-transplant cyclophosphamide (PT-CY) and compared these results to the clinical outcome of patients treated by matched donor HSCT without PT-CY. Read More

Commun Biol 2021 May 3;4(1):517. Epub 2021 May 3.

Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Erythropoiesis involves complex interrelated molecular signals influencing cell survival, differentiation, and enucleation. Diseases associated with ineffective erythropoiesis, such as β-thalassemias, exhibit erythroid expansion and defective enucleation. Clear mechanistic determinants of what make erythropoiesis effective are lacking. Read More

Mol Ther 2021 Apr 30. Epub 2021 Apr 30.

Hudson Institute of Medical Research, Clayton, Melbourne 3168, Australia; Murdoch Children's Research Institute, Parkville, Melbourne 3052, Australia. Electronic address:

A primary challenge in lentiviral gene therapy of β-hemoglobinopathies is to maintain low vector copy numbers to avoid genotoxicity, while becoming reliably therapeutic for all genotypes. We have thus designed a high-titer lentiviral vector, LVβ-shα2, which allows for coordinated expression of the therapeutic β-globin gene and of an intron-embedded miR-30-based shRNA selectively targeting the α2-globin mRNA. Our approach was guided by the knowledge that moderate reduction of α-globin chain synthesis ameliorates disease severity in β-thalassemia. Read More

Blood Res 2021 Apr;56(S1):S39-S43

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current technologies used to characterize these disease-causing variants for the diagnosis of thalassemia. Understanding these molecular basis and technologies will prove to be beneficial for the accurate diagnosis of thalassemia. Read More

Br J Haematol 2021 Apr 30. Epub 2021 Apr 30.

Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA.

Am J Hematol 2021 Apr 29. Epub 2021 Apr 29.

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

Malays J Pathol 2021 Apr;43(1):95-100

University Kebangsaan Malaysia Medical Centre, Department of Pathology, Kuala Lumpur, Malaysia.

The Siriraj I γ(γδβ)-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Read More

Clin Biochem 2021 Apr 23. Epub 2021 Apr 23.

Department of Hematology and Hemotherapy - Hospital Universitario Miguel Servet, Zaragoza, Spain.

Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the β globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia, diagnosed with sickle cell disease, who presented an associated mutation only described in a Japanese family [2]. Read More

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

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

The quality of life (QoL) questionnaire (SF-36) contains 36 questions in eight subscales. It requires much time to fill in by the respondent. The objective of this study was to use Rasch models to develop a questionnaire that brings the desired outcome of the QoL of people. Read More

Hemoglobin 2021 Apr 26:1-4. Epub 2021 Apr 26.

Department of Pediatrics, Faculty of Medicine, Yasuj University of Medical Sciences, Yasuj, Iran.

Thalassemia, which is associated with compound complications, is the most common hereditary anemia in the world. The zinc level is different in patients with thalassemias. This study aimed to determine the zinc status and its relationship with demographic factors and chelation therapy in β-thalassemia major (β-TM) patients. Read More

Transfus Apher Sci 2021 Apr 17:103126. Epub 2021 Apr 17.

Pamukkale University, Faculty of Medicine, Department of Hematology, Denizli, 20070, Turkey. Electronic address:

Objective: Increased life span with regular transfusion and iron chelator treatments enhances the importance of nutrition in beta thalassemia. Controlling Nutritional Status (CONUT) score is a nutritional index calculated on serum albumin, total cholesterol and lymphocyte count. We aim to evaluate need for transfusion and the clinical conditions which cause morbidity with CONUT score in patients with adult transfusion dependent beta thalassemia (BTD). Read More

Porto Biomed J 2021 Jan-Feb;6(1):e126. Epub 2021 Feb 11.

Department of Pathology.

Background: Hemoglobin disorders are the leading health concern in the world including India. There is a paucity of literature on the spectrum of hemoglobin disorders in southern districts of Odisha state. This study was undertaken to elucidate the occurrence of different hemoglobin disorders in a tertiary health care facility of Odisha state, India. Read More

J Blood Med 2021 15;12:235-243. Epub 2021 Apr 15.

Division of Hematology-Medical Oncology, Department of Internal Medicine, Dr. Cipto Mangunkusumo General Hospital, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia.

Introduction: Iron overload is a common feature of thalassemia intermedia due to regular blood transfusion and increased gastrointestinal iron absorption. Early detection and adequate iron chelator can decrease morbidity and mortality from iron overload. Liver iron concentration (LIC) by MRI T2* is the best non-invasive way to measure body iron stores. Read More

Endocr Metab Immune Disord Drug Targets 2021 Apr 21. Epub 2021 Apr 21.

Endocrine-Metabolic Unit, Sant'Andrea University Hospital, Rome, Italy.

Background: The improvement of beta thalassaemia treatments has led to an increase in life expectancy. This implies the emergence of new comorbidities. Amongst others, endocrine glands are extremely sensitive to iron overload. Read More

Haematologica 2021 Apr 22. Epub 2021 Apr 22.

Campus of Haematology Franco and Piera Cutino, AOOR Villa Sofia-V. Cervello, Palermo.

Sci Rep 2021 Apr 20;11(1):8552. Epub 2021 Apr 20.

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

The reactivation of γ-globin chain synthesis to combine with excess free α-globin chains and form fetal hemoglobin (HbF) is an important alternative treatment for β-thalassemia. We had reported HbF induction property of natural curcuminoids, curcumin (Cur), demethoxycurcumin (DMC) and bis-demethoxycurcumin (BDMC), in erythroid progenitors. Herein, the HbF induction property of trienone analogs of the three curcuminoids in erythroleukemic K562 cell lines and primary human erythroid progenitor cells from β-thalassemia/HbE patients was examined. Read More

JAMA 2021 04;325(15):1513-1523

University of Iowa Children's Hospital, Iowa City.

Importance: Although effective agents are available to prevent painful vaso-occlusive episodes of sickle cell disease (SCD), there are no disease-modifying therapies for ongoing painful vaso-occlusive episodes; treatment remains supportive. A previous phase 3 trial of poloxamer 188 reported shortened duration of painful vaso-occlusive episodes in SCD, particularly in children and participants treated with hydroxyurea.

Objective: To reassess the efficacy of poloxamer 188 for vaso-occlusive episodes. Read More

Expert Opin Drug Saf 2021 May 4:1-11. Epub 2021 May 4.

Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Imsida, Malta.

Beta-thalassemia is an autosomal recessive hereditary anemia characterized by reduced or absent β-globin chain synthesis, affecting about 60,000 people peryear. Management for β-thalassemia major includes regular blood transfusions followed by iron chelating therapy and drug targeting ineffective erythropoiesis. The safety of licensed drugs for the management of β-thalassemia is reviewed, using evidence from clinical trials and observational research. Read More

CRISPR J 2021 Apr;4(2):207-222

University Children's Hospital, Department of Pediatrics I, Hematology and Oncology, University of Tübingen, Germany; University of Tübingen, Tübingen, Germany.

Mutations in the human gene are the cause of β-hemoglobinopathies, one of the most common inherited single-gene blood disorders in the world. Novel therapeutic approaches are based on lentiviral vectors (LVs) or CRISPR-Cas9-mediated gene disruption to express adult hemoglobin (HbA), or to reactivate the completely functional fetal hemoglobin, respectively. Nonetheless, LVs present a risk of insertional mutagenesis, while gene-disrupting transcription factors (BCL11A, KLF1) involved in the fetal-to-adult hemoglobin switch might generate dysregulation of other cellular processes. Read More

Am J Clin Nutr 2021 Apr 19. Epub 2021 Apr 19.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, Key Laboratory of Precision Nutrition and Food Quality, Department of Nutrition and Health, China Agricultural University, Beijing, China.

Background: The iron-chelating activities of polyphenols raise concern whether there is a risk of iron deficiency or anemia induced by polyphenol supplementation. Results from clinical trials regarding the effects of polyphenol supplementation on iron status and erythropoiesis are inconclusive.

Objective: We performed a systematic review and meta-analysis of randomized controlled trials to determine the effects of polyphenol supplementation on iron status and erythropoiesis. Read More

Cureus 2021 Mar 13;13(3):e13872. Epub 2021 Mar 13.

Department of Pathology, Tata Main Hospital, Jamshedpur, IND.

The thalassemias are the most common single-gene disorders of hemoglobin synthesis. The salient features of beta thalassemia major, in which both alleles of the HBB gene are affected, are transfusion dependency and iron overload. Although with advances in treatment, the life expectancy in such patients has increased, they have difficulty in conceiving. Read More

Indian J Hematol Blood Transfus 2021 Apr 19;37(2):324-325. Epub 2020 Aug 19.

Department of Pathology, Maharishi Makandeshwar Medical College and Hospital, Kumarhatti, Solan, Himachal Pradesh 173229 India.