Search Our Scientific Publications & Authors

J Clin Pathol 2019 Jan 10. Epub 2019 Jan 10.

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand

Interaction of β-globin gene with an in trans β-thalassaemia gene leads to thalassaemia syndrome, known as haemoglobin (Hb) E-β-thalassaemia disease, with variable clinical and haematological severity. Here, we reported for the first time the Hb E-β-thalassaemia syndrome caused alternatively by an in cis interaction of β and a novel IVSI#7;A>G mutation, namely the Hb E-Udon Thani (HBB:c.[79G>A;92+7 A>G]). Read More

Hemoglobin 2019 Jan 9:1-5. Epub 2019 Jan 9.

b Surat Raktadan Kendra, Udhna Khatodara Urban Health Centre , Near Chosath Joganio Mata Mandir , Surat , Gujarat State , India.

Genetic structure of the Indian population is influenced by waves of several immigrants from West Eurasia. Therefore, genetic information of various ethnic groups is valuable to understand their origins, the pattern of migration as well as the genetic relationship between them. No genetic data is available on Pathare Prabhu, which is a small indigenous Hindu community from Mumbai, Maharashtra State, India. Read More

Hemoglobin 2019 Jan 9:1-3. Epub 2019 Jan 9.

a Child Health Department, Faculty of Medicine , University of Ioannina , Ioannina , Greece.

Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Read More

Hemoglobin 2019 Jan 9:1-3. Epub 2019 Jan 9.

b Department of Paediatric Oncology, Haematology and Immunology , Heidelberg University , Heidelberg , Germany.

Over the last 43 years, surveys of over 200,000 subjects in Jamaica have identified β-thalassemia (β-thal) mutations. In most, these genes were detected at birth in patients with sickle cell-β-thal and so the prevalence and distribution would not be influenced by subsequent clinical course. There were two newborn populations, 100,000 deliveries in the corporate area between 1973-1981 and 84,940 in south and western Jamaica between 2008-2016. Read More

Hemoglobin 2019 Jan 9:1-3. Epub 2019 Jan 9.

a Adult Thalassaemia Unit, 2nd Department of Internal Medicine , Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki , Thessaloniki , Greece.

Delayed hemolytic transfusion reaction (DHTR) is a life-threatening complication in patients with sickle cell disease, characterized by difficulties in diagnosis and management. Certain reports have suggested successful salvage treatment with the terminal complement inhibitor, eculizumab. We here report evidence of complement activation and successful complement inhibition with one dose of eculizumab in an adult sickle cell disease patient presenting DHTR with hyperhemolysis. Read More

Blood 2019 Jan 7. Epub 2019 Jan 7.

Acceleron Pharma, Cambridge, MA, United States.

Beta-thalassemia is a hereditary disorder with limited approved treatment options; patients experience anemia and its complications, including iron overload. This study aim was to determine whether luspatercept could improve anemia and disease complications in patients with beta-thalassemia. This open-label, nonrandomized, uncontrolled study (NCT01749540 and NCT02268409) consisted of a 24-week dose-finding and expansion stage (initial stage) and a 5 year extension stage, currently ongoing. Read More

Blood 2019 Jan 7. Epub 2019 Jan 7.

School of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW Sydney), Sydney, NSW, Australia;

β-hemoglobinopathies, such as sickle cell disease and β-thalassemia result from mutations in the adult β-globin gene. Reactivating the developmentally silenced fetal γ-globin gene elevates fetal hemoglobin levels and ameliorates symptoms of β-hemoglobinopathies. The continued expression of fetal γ-globin into adulthood occurs naturally in a genetic condition termed Hereditary Persistence of Fetal Hemoglobin (HPFH). Read More

Blood Rev 2019 Jan 15;33:11-23. Epub 2018 Jun 15.

Department of Biochemistry and Genetics, La Trobe Institute for Molecular Science, La Trobe University, Bundoora, VIC 3086, Australia. Electronic address:

Genetic lesions of the β-globin gene result in haemoglobinopathies such as β-thalassemia and sickle cell disease. To discover and test new molecular medicines for β-haemoglobinopathies, cell-based and animal models are now being widely utilised. However, multiple in vitro and in vivo models are required due to the complex structure and regulatory mechanisms of the human globin gene locus, subtle species-specific differences in blood cell development, and the influence of epigenetic factors. Read More

Hemoglobin 2019 Jan 7:1-4. Epub 2019 Jan 7.

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

The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7. Read More

Hemoglobin 2018 Jul 7;42(4):272-275. Epub 2019 Jan 7.

a Prenatal Diagnostic Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi Zhuang Autonomous Region , People's Republic of China.

β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β) or absent (β) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. Read More

Hemoglobin 2019 Jan 7:1-3. Epub 2019 Jan 7.

a Department of Laboratory Medicine , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.

We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ β-Thalassemia Short Program) showed no suspicious Hb variant. Read More

Mol Diagn Ther 2019 Jan 4. Epub 2019 Jan 4.

Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara n.74, 44121, Ferrara, Italy.

Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation of gene expression and onset of human diseases, including rare genetic diseases; therefore they are suitable targets for therapeutic intervention. This issue, in the context of rare genetic diseases, is being considered by an increasing number of research groups and is of key interest to the health community. Read More

PLoS Comput Biol 2019 Jan 4;15(1):e1006680. Epub 2019 Jan 4.

Center for Quantitative Medicine and Department of Cell Biology, University of Connecticut School of Medicine, Farmington, Connecticut, United States of America.

It is well known that iron is an essential element for life but is toxic when in excess or in certain forms. Accordingly there are many diseases that result directly from either lack or excess of iron. Yet many molecular and physiological aspects of iron regulation have only been discovered recently and others are still elusive. Read More

Open Access Maced J Med Sci 2018 Dec 16;6(12):2337-2341. Epub 2018 Dec 16.

Department of Children with Special Needs, Medical Research Division, National Research Centre, Cairo, Egypt.

Background: Beta thalassemia major is considered one of the serious health problems and the commonest hemoglobinopathy in Egypt that creates a burden not only on health system but also on the affected families and children who become vulnerable to emotional, social, psychological and behavioural problems.

Aim: This study was designed to assess the psychosocial burden and the adaptive functioning in children with beta-thalassemia major.

Subjects And Methods: A group of 50 children with thalassemia major and 50 normal children matched for age and sex were included in a case-control study. Read More

Mol Ther Methods Clin Dev 2019 Mar 18;12:102-110. Epub 2018 Dec 18.

Department of Biochemistry and Molecular Biology, College of Medicine, UF Health Cancer Center, Genetics Institute, Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, USA.

Hemoglobinopathies, including sickle cell disease and thalassemia, are among the most common inherited genetic diseases worldwide. Due to the relative ease of isolating and genetically modifying hematopoietic stem and progenitor cells, recent gene editing and gene therapy strategies have progressed to clinical trials with promising outcomes; however, challenges remain and necessitate the continued exploration of new gene engineering and cell transplantation protocols. Current gene engineering strategies aim at reactivating the expression of the fetal γ-globin genes in adult erythroid cells. Read More

Clin Biochem 2019 Jan 26;63:139-142. Epub 2018 Oct 26.

Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, Spain.

Background: In the α-thalassemia one of the less frequent mechanisms is the nonsense mutations, which generate the substitution of a triplet that encodes an amino acid for a stop codon and, therefore, protein synthesis stops prematurely. At present, 9 mutations of this type have been documented, 6 that affect the HBA2 gene and 3 that affect the HBA1 gene.

Objectives: We present a new mutation in CD16 of the HBA1 gene, where the change AAG>TAG generates a stop codon. Read More

Anal Biochem 2018 Dec 26;568:31-40. Epub 2018 Dec 26.

University of Nice Sophia Antipolis, UFR Sciences, Nice, France, Inserm UMR1091, CNRS UMR7277, Nice, France. Electronic address:

Animal models possess undeniable utility for progress on biomedical research projects and developmental and disease studies. Transgenic mouse models recreating specific disease phenotypes associated with β-hemoglobinopathies have been developed previously. However, traditional methods for gene targeting in mouse using embryonic stem cells (ESCs) are laborious and time consuming. Read More

Medicine (Baltimore) 2018 Dec;97(52):e13557

Clinical Core Laboratory.

This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better control the birth of major thalassemia child in Hakka population. Totally, 467 fetuses in at-risk pregnancies were collected from Meizhou people's hospital from January 2014 to December 2017. Genomic DNAs were extracted from peripheral blood of the couples and villus, amniotic fluid or cord blood of the fetuses. Read More

Transfus Apher Sci 2018 Dec 5. Epub 2018 Dec 5.

U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology, Department of Internal Medicine and Specialistics, Azienda Ospedaliera Universitaria (AOU), University of Campania "L. Vanvitelli", Naples, Italy; Department of Medical, Surgical, Neurological, Metabolic and Geriatric Sciences, University of Campania "L. Vanvitelli", Naples, Italy.

Background: The development of alloantibodies may complicate the management of patients with β-thalassemia. An extended antigenic matching may reduce the risk of alloimmunization. Our previous study showed that the introduction of molecular red blood cell (RBC) typing allows finding suitable blood units for multi-transfused patients. Read More

J Blood Med 2018 14;9:241-251. Epub 2018 Dec 14.

Prophetic Medicine Course and Research, Taibah College of Medicine, Medina, Saudi Arabia,

Background: Thalassemia is a major health problem due to iron overload, iron deposition and oxidative stress-induced tissue damage. Here, we introduce Al-hijamah (a minor surgical excretory procedure) as a novel percutaneous iron excretion therapy. Al-hijamah is a wet cupping therapy of prophetic medicine, and prophet Muhammad, peace be upon him, strongly recommended Al-hijamah, saying: "The best of your treatment is Al-hijamah". Read More

Int Med Case Rep J 2019 17;12:1-7. Epub 2018 Dec 17.

Department of Cardiology, Cardiovascular Research Center, Mazandaran University of Medical Sciences, Sari, Iran,

Introduction: Pulmonary arterial hypertension (PAH) is relatively prevalent in patients with thalassemia. PAH treatment is necessary as the prevalence of Doppler-estimated PAH and the resultant mortality is high in such patients.

Materials And Methods: This study aimed at evaluating the effect of bosentan therapy on patients with thalassemia suspected of PAH. Read More

J Cell Physiol 2018 Dec 26. Epub 2018 Dec 26.

Molecular and Medicine Research Center, Department of Biotechnology, Faculty of Medicine, Arak University of Medical Sciences, Arak, Iran.

Curcumin is a polyphenolic compound derived from Curcumin longa L. There are growing bodies of evidence revealing the antitumor effect of curcumin in different tumors; although the molecular mechanism behind this inhibition in glioblastoma multiform (GBM) still remains unclear. Here we investigated the antitumor activity of nano micelles curcumin compared with erlotinib in U-373 cells in monolayer cell cultures and spheroids models. Read More

Thromb Res 2018 Dec 20;174:104-112. Epub 2018 Dec 20.

Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand.

Introduction: Pulmonary hypertension (PH) is the commonest cardiac complication in β-thalassemia intermedia, including β-thalassemia/hemoglobin E (β-thal/HbE), and is strongly associated with splenectomy. We aimed to define the prevalence and comprehensively explore mechanisms of PH in β-thal/HbE patients receiving regular transfusion and iron chelation, which were reported to alleviate PH.

Materials And Methods: β-Thal/HbE patients receiving regular transfusion and iron chelation over one year were enrolled. Read More

EJIFCC 2018 Dec 5;29(4):298-302. Epub 2018 Dec 5.

Department of Physiopathology and Transplantation, Center for Metrological Traceability in Laboratory Medicine (CIRME), University of Milano, Italy.

Background: A project for the standardization of HbA was launched by the IFCC back in 2004.

Materials And Methods: In this work we report on the state-of-the-art of the project on standardization of HbA. Data obtained from various EQAS studies, and from previous experimental evaluations, are presented. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2018 Dec;20(12):990-993

Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China.

Objective: To investigate the screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene.

Methods: A retrospective analysis was performed for the clinical data of 1 193 full-term neonates who underwent β-thalassemia screening (hemoglobin analysis with dried blood spots on neonatal heel blood filter paper and mutation detection of 17 β-globin genes). A multivariate logistic regression analysis was used to investigate the association between screening indices and β-thalassemia gene, and the receiver operating characteristic (ROC) curve was used to analyze the value of screening indices in determining the presence or absence of β-thalassemia gene. Read More

Int J Mol Sci 2018 Dec 17;19(12). Epub 2018 Dec 17.

Division of Hematology/Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut 11-0236, Lebanon.

With the continuing progress in managing patients with thalassemia, especially in the setting of iron overload and iron chelation, the life span of these patients is increasing, while concomitantly increasing incidences of many diseases that were less likely to show when survival was rather limited. Hepatocellular carcinoma (HCC) is a major life-threatening cancer that is becoming more frequently identified in this population of patients. The two established risk factors for the development of HCC in thalassemia include iron overload and viral hepatitis with or without cirrhosis. Read More

Intractable Rare Dis Res 2018 Nov;7(4):258-263

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

Thalassemia and other hemoglobinopathies together with red cell enzymopathies are a common cause of anemia, which can be prevented by population screening and genetic counseling. This study was designed to screen the anemic patients for thalassemia, structural hemoglobin variants and red cell enzymopathies. A total of 17047 cases were evaluated from 2009 to 2018 for thalassemia, hemoglobin variants, glucose 6 phosphate dehydrogenase deficiency, pyruvate kinase deficiency and hereditary spherocytosis. Read More

Hemoglobin 2018 Dec 17:1-5. Epub 2018 Dec 17.

a Departamento de Microbiología , Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Inmunología, Biotecnología y Genética/Cátedra de Genética , Buenos Aires , Argentina.

Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding the nascent peptides and helping them acquire their native structure, preventing oxidative damage by free globin chains and preventing the cleavage of essential erythroid transcription factors. This study analyzed the distribution of the single nucleotide polymorphism (SNP) rs4296276 in intron 1 of the α-globin chaperone α Hb-stabilizing protein (AHSP) in the Argentinean population. Read More

J Pediatr Hematol Oncol 2018 Dec 14. Epub 2018 Dec 14.

Kanuni Sultan Suleyman Training and Research Hospital, Pediatric Hematology Oncology, Istanbul, Turkey.

Most common causes of microcytic anemia in children are iron deficiency anemia (IDA) and thalassemia. Differentiation of these and detection of coexistence is essential for genetic counseling and to set a treatment plan. Aim is to characterize the frequency of IDA and thalassemia trait (TT) in children presenting with hypochromic, microcytic anemia and to define the significance of blood count parameters in differential diagnosis. Read More

J Cell Biochem 2018 Dec 16. Epub 2018 Dec 16.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Elevation of hemoglobin F (HbF) ameliorates symptoms of β-thalassemia, as a common autosomal recessive disorder. In this study, the ability of an engineered zinc-finger nuclease (ZFN) system was assesed to disrupt the KLF1 gene to inhibit the γ to β hemoglobin switching in K562 cells. This study was performed using a second generation integration-deficient lentiviral vector assigned to transient gene targeting. Read More

Bioorg Med Chem Lett 2018 Dec 22;28(23-24):3676-3680. Epub 2018 Oct 22.

GlaxoSmithKline, 1250 South Collegeville Rd., Collegeville, PA 19426, USA.

Beta-hemoglobinopathies such as sickle cell disease represent a major global unmet medical need. De-repression of fetal hemoglobin in erythrocytes is a clinically validated approach for the management of sickle cell disease, but the only FDA-approved medicine for this purpose has limitations to its use. We conducted a phenotypic screen in human erythroid progenitor cells to identify molecules with the ability to de-repress fetal hemoglobin, which resulted in the identification of the benzoxaborole-containing hit compound 1. Read More

J Pediatr Hematol Oncol 2018 Dec 12. Epub 2018 Dec 12.

Pediatrics, St Johns Medical College Hospital, Bengaluru, Karnataka, India.

Introduction: Children with chronic disorders like β thalassemia major (TM) and their care givers are known to face various psychosocial problems. This study used screening tests to detect these psychosocial issues so that prompt referral for counseling is possible.

Methods: A semistructured demographic questionnaire, Pediatric Symptom Checklist (PSC-17) and the Strengths and Difficulties Questionnaire (SDQ) were administered to 30 children with TM, on regular treatment at a tertiary care hospital. Read More

Nat Med 2018 Dec;24(12):1781

Nature Medicine, .

Heart Fail Rev 2018 Dec 12. Epub 2018 Dec 12.

Department of biochemistry and hematology, faculty of medicine, Semnan University of Medical Sciences, Semnan, Iran.

Cardiovascular disease (CVD) is still a factor of mortality in the whole world. Through canonical and noncanonical pathways and with different receptors, the Wnt/β-catenin signaling pathway plays an essential role in response to heart injuries. Wnt regulates the mobilization and proliferation of cells in endothelium and epicardium in an infarcted heart. Read More

Pediatr Dermatol 2018 Dec 9. Epub 2018 Dec 9.

Department of Dermatology and Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. Read More

J Cell Physiol 2018 Dec 10. Epub 2018 Dec 10.

Department of Clinical Pharmacy, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran.

Cardiac complications including arrhythmia and especially atrial fibrillation (AF) are common causes of death in β-thalassemia patients. The main factor in the etiopathogenesis of these complications is iron overload, which results in increased oxidative stress. Although there is a known association between cardiac complications and iron overload in β-thalassemia patients, there is no comprehensive review on AF and excessive iron with a focus on oxidative stress in these patients. Read More

Int J Health Sci (Qassim) 2018 Nov-Dec;12(6):18-24

Department of Biology, Faculty of Science, Al Azhar University-Gaza, P O Box 1277, Gaza, Palestine.

Objectives: In Gaza Strip, Palestine, β-thalassemia is a major public health problem where more than 300 β-thalassemia major (βTM) patients are currently being managed at governmental hospitals. We set up to evaluate the hematological and biochemical aspects of our βTM patients at the Gaza European hospital and their correlation with iron overload.

Methods: Our study included 65 transfusion-dependent βTM, as well as 37 apparently healthy subjects as control group. Read More

Sci Rep 2018 Dec 7;8(1):17730. Epub 2018 Dec 7.

Radiodiagnosis departments, Zagazig University, Zagazig, Egypt.

In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β° refers to the complete absence of production of β-globin on the affected allele. β refers to alleles with some residual production of β-globin. Read More

J Pediatr Hematol Oncol 2018 Dec 7. Epub 2018 Dec 7.

Department of Pediatrics, Tanta University Hospital, Tanta, Egypt.

Introduction: Cardiac failure in children with Thalassemia major (TM) is the major cause of death due to iron overload. Spirulina is a micro alga with proven anti-inflammatory, antioxidant and may have a cardioprotective effect.

Aim Of The Work: The aim of this study was to evaluate the possible beneficial effect of spirulina supplement in TM children. Read More

Genomics 2018 Dec 4. Epub 2018 Dec 4.

National Institute of Immunohematology (ICMR), 13th Floor, New Multi-storeyed Building, K.E.M. Hospital Campus, Parel, Mumbai 400012, India. Electronic address:

The master erythroid regulator KLF1,plays a pivotal role during erythroid lineage development by regulating the expression of many erythroid genes. Variations in the KLF1 gene are found to be associated with varied erythroid phenotypes. With the aim of determining the role of KLF1 gene variations in HbF induction and their genotype phenotype relationship, in this study, we screened 370 individuals with different hemoglobinopathy condition. Read More

PLoS One 2018 6;13(12):e0208316. Epub 2018 Dec 6.

Universidade Federal de São Carlos (UFSCar), Departamento de Genética e Evolução, São Carlos, Brazil.

β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by an absent or reduced beta globin chain synthesis. The unbalance of alpha-gamma chain and the presence of pathological free iron promote severe oxidative damage, playing crucial a role in erythrocyte hemolysis, exacerbating ineffective erythropoiesis and decreasing the lifespan of red blood cells (RBC). Catalase, glutathione peroxidase and peroxiredoxins act together to protect RBCs from hydrogen peroxide insult. Read More

Saudi Med J 2018 Dec;39(12):1253-1258

Department of Biological Sciences, Beirut Arab University, Beirut, Lebanon. E-mail.

Objectives: To examine the association between beta-globin sequence variations and phenotypes of sickle-cell disease (SCD) complications among Palestinian refugees in Lebanon correlating them with chromatographic readings and co-inheritance with β-thalassemia traits.   Methods: This cross-sectional study included 47 Palestinian refugees aged 4 to 54 living in different regions in Lebanon during the year 2015. Participant filled a well-designed questionnaire. Read More

Ann Hematol 2018 Nov 30. Epub 2018 Nov 30.

Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Beirut, 11072020, Lebanon.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on β-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation. Read More

Methods Mol Biol 2019 ;1885:207-219

Department of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.

The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide. The clinical severity of β-thalassemia major and the sickle cell syndromes targets them as priority genetic diseases for prevention programs, which incorporates population screening to identify heterozygotes, with the option of prenatal diagnosis for carrier couples. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis. Read More

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):361-370

University College London, London, United Kingdom.

Transfusion combined with chelation therapy for severe β thalassemia syndromes (transfusion-dependent thalassemia [TDT]) has been successful in extending life expectancy, decreasing comorbidities and improving quality of life. However, this puts lifelong demands not only on the patients but also on the health care systems that are tasked with delivering long-term treatment and comprehensive support. Prevention programs and curative approaches are therefore an important part of overall strategy. Read More

Clin Biochem 2018 Nov 29. Epub 2018 Nov 29.

Department of Laboratory, Guizhou Provincial People's Hospital, No.83 East Zhongshan Road, Guiyang 550002, Guizhou, PR China; Medical college, Guizhou University, South Jiaxiu Road, Guiyang 550025, Guizhou, PR China. Electronic address:

Objective: The aims of this study were to establish the reference intervals for HbA2 and HbF in a Guizhou population of reproductive age, and to determine the cut-off value of HbA for β-thalassemia carrier screening.

Methods: Hemoglobin analysis was performed on 832 individuals without hypochromic microcytic anemia to calculate the reference intervals for HbA and HbF. Three hundred and ninety one β-thalassemia carriers and non β-thalassemia individuals were analyzed for their HbA levels followed by detecting β-globin gene mutations, then cut-off value of HbA for β-thalassemia carrier screening was determined using ROC curve analysis. Read More

J Nutr 2018 Dec;148(12):1903-1910

Department of Nutrition, University of California, Davis, Davis, CA.

Background: The relation between subclinical hemoglobinopathies and concentrations of the iron-regulatory hormone hepcidin is not well characterized.

Objective: We investigated the relation of hepcidin concentration with hemoglobinopathies among young children in Kenya.

Methods: We quantified serum hepcidin and ferritin in 435 Kenyan children aged 14-20 mo in a subsample of the Water, Sanitation, and Handwashing (WASH) Benefits Trial. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):787-790

Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong 510515, China.

Objective: To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR).

Methods: Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. Read More

Cancer Manag Res 2018 16;10:5725-5734. Epub 2018 Nov 16.

Department of Oncology Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, China,

Background: Circular RNAs(circRNAs) have been reported as a diverse class of endogenous RNA that regulate gene expression in eukaryotes. Recent evidence suggested that many circular RNAs can act as oncogenes or tumor suppressors through sponging microRNAs. However, the function of circular RNAs in gastric cancer remains largely unknown. Read More

J Lab Physicians 2018 Oct-Dec;10(4):370-373

Department of Pathology and Scientific Research Center, College of Medicine, University of Duhok, Duhok, Iraq.

Purpose: Hemoglobin (Hb) F% is increased in up to half of beta-thalassemia (β-thal) carriers. Several polymorphisms have been linked to such variability in different populations, including - 158(C>T) ( polymorphism) on chromosome 11. To determine the role of this polymorphism in such variability among Iraqi Kurds, the current study was initiated. Read More