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    Thalidomide-induced Stroke in a Child With Thalassemia Major.
    J Pediatr Hematol Oncol 2017 May 22. Epub 2017 May 22.
    Department of Pediatrics, Division of Pediatric Hematology and Oncology, St. John's Medical College and Hospital, Bangalore, India.
    β-thalassemia major is a hereditary anemia resulting from defects in β-globin production. It is also characterized by a hypercoagulable state with an increased risk of thrombosis. Thalidomide, a drug known for its immunomodulating and antiangiogenic properties, has recently been demonstrated to induce γ-globin gene expression and to increase the proliferation of erythroid cells. Read More

    A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
    Genet Test Mol Biomarkers 2017 May 24. Epub 2017 May 24.
    1 Department of Prepotency and Genetics, Affiliated Hospital of Guilin Medical University , Guilin, Guangxi, China .
    Aims: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Read More

    Utility of Transient Elastography in Estimating Hepatic Iron Concentration in Comparison to Magnetic Resonance Imaging in Patients Who are Transfusion-Dependent: A Canadian Center Experience.
    Hemoglobin 2017 Jan;41(1):21-25
    e Department of Medicine, Division of Haematology , University of British Columbia , Vancouver , Canada.
    Transfusion-dependent hereditary anemias such as β-thalassemia (β-thal), predispose patients to iron overload and its numerous clinical sequelae. Accurate assessment of overall iron status and prompt initiation of chelation therapy to prevent irreversible end-organ damage can be achieved using magnetic resonance imaging (MRI) to measure liver iron concentration (LIC) as a surrogate marker of total body iron; however, its access may be associated with long wait times and delay in treatment. We report an observational cohort study at a single tertiary care center assessing the theoretical role of transient elastography (TE), which measures liver stiffness, in estimating LIC compared to other established diagnostic measures. Read More

    CD34(+) cells from dental pulp stem cells with a ZFN-mediated and homology-driven-repair-mediated locus-specific knock-in of an artificial β-globin gene.
    Gene Ther 2017 May 22. Epub 2017 May 22.
    Molecular and Cell biology Unit, Department of Medicine, Lerdsin General Hospital, Bang-Rak Bangkok, Thailand.
    In humans, mutations in the β-globin gene (HBB) have two important clinical manifestations: β-thalassemia and sickle cell disease. The progress in genome editing and stem cell research may be relevant to the treatment of β-globin-related diseases. In this work, we employed zinc finger nuclease (ZFN)-mediated gene integration of synthetic β-globin cDNA into HBB loci, thus correcting almost all β-globin mutations. Read More

    Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population.
    Pak J Med Sci 2017 Mar-Apr;33(2):411-416
    Tahir Shamsi, FRC Path. Department of Hematology, National Institute of Blood Disease & Bone Marrow Transplantation, Karachi, Pakistan.
    Background & Objective: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. Read More

    Thalassemias in South Asia: clinical lessons learnt from Bangladesh.
    Orphanet J Rare Dis 2017 May 18;12(1):93. Epub 2017 May 18.
    Thalassemia Foundation Hospital, Dhaka, Bangladesh.
    Thalassemias are emerging as a global public health concern. Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likely to be a major public health concern in the coming decades in South Asia. Despite the fact that Bangladesh lies in the world's thalassemia belt, the information on different aspects (epidemiology, clinical course, mortality, complications and treatment outcomes) of thalassemias is lacking. Read More

    Skin Disorders in Egyptian Children with β-Thalassemia Major.
    J Trop Pediatr 2017 May 16. Epub 2017 May 16.
    Department of Pediatrics, Beni-Suef University, Beni Suef 62511, Egypt.
    Background: Thalassemia major is one of the common genetic disorders in Egypt. Skin disorders are usually neglected and frequently underdiagnosed among these patients.

    Objective: This work aimed to study the frequency and pattern of skin manifestations in Egyptian children with β-thalassemia. Read More

    A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote.
    Biomed Res Int 2017 19;2017:4537409. Epub 2017 Apr 19.
    Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
    We report a novel β(+)-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3. Read More

    Cardiac complications in beta-thalassemia: From mice to men.
    Exp Biol Med (Maywood) 2017 Jan 1:1535370217708977. Epub 2017 Jan 1.
    1 Faculty of Medicine, Cardiac Electrophysiology Research and Training Center, Chiang Mai University, Chiang Mai 50200, Thailand.
    Beta-thalassemia is an inherited hemoglobin disorder caused by reduced or absent synthesis of the beta globin chains of hemoglobin. This results in variable outcomes ranging from clinically asymptomatic to severe anemia, which then typically requires regular blood transfusion. These regular blood transfusions can result in an iron overload condition. Read More

    Temporal bone extramedullary hematopoiesis as a causeof pediatric bilateral conductive hearing loss:Case report and review of the literature.
    Int J Pediatr Otorhinolaryngol 2017 Jun 28;97:135-138. Epub 2017 Mar 28.
    Dept. of Pediatric Otolaryngology, Children's Hospital of San Antonio, Baylor College of Medicine, San Antonio, TX, USA.
    Extramedullary hematopoiesis occurs in children with hemoglobinopathy and chronic anemia. The liver and spleen are often affected first, but other foci can develop to support erythrocyte demand. We report a case of a nine-year-old with beta thalassemia and temporal bone extramedullary hematopoiesis causing ossicular fixation and bilateral conductive hearing loss. Read More

    IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.
    Hemoglobin 2017 Jan 5;41(1):44-46. Epub 2017 May 5.
    a Medical Genetics Laboratory, Kermanshah University of Medical Sciences , Kermanshah , Iran.
    Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the β-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c. Read More

    Depleted nitric oxide and prostaglandin E2 levels are correlated with endothelial dysfunction in β-thalassemia/HbE patients.
    Int J Hematol 2017 May 4. Epub 2017 May 4.
    Division of Cardiology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and Cardiac Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, 10330, Thailand.
    Mechanisms of vascular disorders in β-thalassemia/HbE patients remain poorly understood. In the present study, we aimed to determine the presence of endothelial dysfunction and its association with altered vascular mediators in this population. Forty-three β-thalassemia/HbE patients without clinically documented vascular symptoms and 43 age-sex-matched healthy controls were enrolled. Read More

    Thalassemia review: features, dental considerations and management.
    Electron Physician 2017 Mar 25;9(3):4003-4008. Epub 2017 Mar 25.
    Ph.D. Student of Clinical Research, Lecturer, Oral & Maxillofacial Surgery Department, Al-Farabi College of Dentistry & Nursing, Jeddah, Saudi Arabia.
    Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Read More

    A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia.
    Hemoglobin 2017 Jan 1;41(1):59-60. Epub 2017 May 1.
    a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center Affiliated to Southern Medical University , Guangzhou , Guangdong , People's Republic of China.
    We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. Read More

    Papillary Fibroelastoma as a Cause of Cardiogenic Embolic Stroke in a β-Thalassemia Patient: Case Report and Literature Review.
    Case Rep Cardiol 2017 26;2017:8185601. Epub 2017 Mar 26.
    Department of Internal Medicine, SSM St. Mary's Health Center, 6420 Clayton Rd, Richmond Heights, MO 63117, USA.
    We describe a case of a young male without stroke risk factors who presented with a sudden onset of left-sided weakness, left hand numbness, and left eye blurriness. CT scan of the head without contrast and diffusion-weighted MRI of the brain with contrast revealed an ischemic stroke in the right middle cerebral artery distribution. Transesophageal echocardiography (TEE) revealed a mobile pedunculated mass on the posterior surface of the mitral valve. Read More

    Myocardial deformation in iron overload cardiomyopathy: speckle tracking imaging in a beta-thalassemia major population.
    Intern Emerg Med 2017 Apr 29. Epub 2017 Apr 29.
    Cardiovascular Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, via F. Sforza 35, 20122, Milan, Italy.
    Traditional echocardiography is unable to detect neither the early stages of iron overload cardiomyopathy nor myocardial iron deposition. The aim of the study is to determine myocardial systolic strain indices in thalassemia major (TM), and assess their relationship with T2*, a cardiac magnetic resonance index of the severity of cardiac iron overload. 55 TM cases with recent cardiac magnetic resonance (CMR-T2*) underwent speckle tracking analysis to assess regional myocardial strains and rotation. Read More

    The clinical severity of hemoglobin S/Black ((A) γδβ)(0) -thalassemia.
    Pediatr Blood Cancer 2017 Apr 28. Epub 2017 Apr 28.
    Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee.
    Hemoglobin S/Black ((A) γδβ)(0) -thalassemia is a rare sickle cell disease (SCD) variant. On the basis of limited descriptions in the literature, the disease is reported as a mild microcytic anemia with an uncomplicated course. We report the clinical and laboratory data of nine patients whose diagnoses were confirmed by DNA-based techniques. Read More

    Coinheritance of B-Thalassemia and Sickle Cell Anaemia in Southwestern Nigeria.
    Ethiop J Health Sci 2016 Nov;26(6):517-522
    Haematology and Blood Transfusion Laboratory, LAUTECH Teaching Hospital, Osogbo, Nigeria.
    Background: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a severe disorder similar to homozygous sickle cell disease. Read More

    [Analysis of Gene Mutation Types of Thalassemia in Longyan Area of Fujian Province in China].
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 2017 Apr;25(2):498-502
    Central Laboratory, Longyan First Affiliated Hospital of Fujian Medical University, Longyan First Hospital of Fujian Province, Longyan 364000, Fujian Province, China.
    Objective: To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects.

    Methods: The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot hybridization (RDB). Read More

    Watershed Infarct in Beta-Thalassemia Major Patient.
    Case Rep Neurol Med 2017 27;2017:2736402. Epub 2017 Mar 27.
    Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Read More

    Effect of breastfeeding versus infant formula on iron status of infants with beta thalassemia major.
    Int Breastfeed J 2016 17;12:18. Epub 2017 Apr 17.
    Clinical Pathology Department, Faculty of Medicine - Zagazig University, Zagazig, Egypt.
    Background: Thalassemia major or Cooley's anemia is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia requiring regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload that must be treated with chelation therapy to prevent early death from organ failure. We compared serum iron and ferritin levels amongst infants aged up to one year with beta thalassemia major according to their feeding types, including exclusively breastfed, exclusively formula fed and combined (both breast and formula) fed types. Read More

    Hemolytic transfusion reaction attributable to anti-Dia.
    Immunohematology 2017 Jan;33(1):6-8
    Manager, Australian Red Cross Blood Service Red Cell Reference Laboratory, Brisbane, Australia.
    Conclusions: In situations when a patient's antibody detection test is negative, many institutions have moved from an indirect antiglobulin test (IAT) crossmatch to an electronic crossmatch system. Here we report a case of an acute hemolytic transfusion reaction attributable to anti-Dia in a patient with a negative antibody detection test. A 22-year-old female patient with a diagnosis of β thalassemia and sickle cell anemia commenced a routine exchange transfusion of 5 units of red blood cells (RBCs) in the apheresis unit as part of her regular treatment. Read More

    Restless legs syndrome/Willis-Ekbom disease prevalence in beta thalassemia patients.
    Sleep Breath 2017 Apr 19. Epub 2017 Apr 19.
    Department of PE and Sport Science, University of Thessaly, Trikala, Greece.
    Purpose: Both beta thalassemia and restless legs syndrome (RLS) patients share some common pathophysiological characteristics related to iron handling. In the present study, the aim was to explore the prevalence of RLS as well as to explore potential association between the syndrome and various quality of life-related parameters in a sample of beta thalassemia patients.

    Methods: One hundred fourteen (age 40 ± 11 yr, 59 M/55F) beta thalassemia patients participated in this cross-sectional descriptive study. Read More

    The prevalence of thalassemia in mainland China: evidence from epidemiological surveys.
    Sci Rep 2017 Apr 19;7(1):920. Epub 2017 Apr 19.
    Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
    Comprehensive data regarding the epidemiology and prevalence of thalassemia in mainland China are lacking. To assess the prevalence of thalassemia, we performed a meta-analysis including 16 articles published from 1981 to 2015. The overall prevalence of α-thalassemia, β-thalassemia and α + β-thalassemia was 7. Read More

    Analysis of variants in upstream open reading frames of human globin-related genes.
    Yi Chuan 2017 Mar;39(3):232-240
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China.
    β-thalassemia is an autosomal recessive monogenic disease that is caused by defects in the production of β-like globin chains. Activation of γ-globin gene and the increase in fetal hemoglobin expression have been demonstrated as one of the most important factors to ameliorate the clinical outcome of β-thalassemia patients. In this study, 202 genes or miRNAs associated with human hemoglobin gene expression from 1802 β-thalassemia patients were analyzed with target capture and next generation sequencing strategies in terms of functional variants that might affect hemoglobin gene expression. Read More

    Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.
    Hematol Oncol Stem Cell Ther 2017 Apr 6. Epub 2017 Apr 6.
    Department of Community Health Science, University of Calgary, Calgary, Alberta, Canada.
    Objective/background: Nontransfusion-dependent β-thalassemia (NTDβT) syndromes consist of β-thalassemia intermedia and moderate hemoglobin E/β thalassemias. They are characterized by varying degrees of chronic anemia and a wide spectrum of complications due to ineffective erythropoiesis and iron overload from chronic transfusions. Hydroxyurea (HU), an oral chemotherapeutic drug, is anticipated to decrease disease severity. Read More

    Effects of hemoglobin variants HbJ Bangkok, HbE, HbG Taipei, and HbH on analysis of glycated hemoglobin via ion-exchange high-performance liquid chromatography.
    J Clin Lab Anal 2017 Apr 13. Epub 2017 Apr 13.
    Laboratory Medicine Centre, Zhongshan Hospital Affiliated to Sun Yat-sen University, Zhongshan, Guangdong, China.
    Background: To explore the effects of HbJ Bangkok, HbE, HbG Taipei, and α-thalassemia HbH on the results of HbA1c assessment using ion-exchange high-performance liquid chromatography (IE-HPLC).

    Methods: We enrolled five patients in which the results of the IE-HPLC HbA1c assay were inconsistent with the average levels of FBG. We performed hemoglobin capillary (Hb) electrophoresis using whole-blood samples. Read More

    Hepcidin suppression in β-thalassemia is associated with the down-regulation of atonal homolog 8.
    Int J Hematol 2017 Apr 12. Epub 2017 Apr 12.
    Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.
    Atonal homolog 8 (ATOH8) is defined as a positive regulator of hepcidin transcription, which links erythropoietic activity with iron-sensing molecules. In the present study, we investigated the association between hepcidin and ATOH8 expression in β-thalassemia. We found that inhibition of hepcidin expression in β-thalassemia is correlated with reduced ATOH8 expression. Read More

    A national registry of thalassemia in Turkey; demographic and disease characteristics of patients, achievements and challenges in prevention.
    Turk J Haematol 2017 Apr 13. Epub 2017 Apr 13.
    Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey. A total of 2046 patients from 27 Thalassemia Centers were registered in which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83. Read More

    Human parvovirus B19 in patients with beta thalassemia major from Tehran, Iran.
    Blood Res 2017 Mar 27;52(1):50-54. Epub 2017 Mar 27.
    Department of Medical Virology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
    Background: Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. We investigated the prevalence of parvovirus B19 among patients with beta thalassemia major attending the Zafar Adult Thalassemia Clinic in Tehran, Iran.

    Methods: This cross-sectional study was performed to determine the presence of parvovirus B19 DNA in blood samples and parvovirus B19 genotypes in plasma samples of patients with thalassemia major. Read More

    Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction.
    Adv Biomed Res 2017 7;6:23. Epub 2017 Mar 7.
    Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND) services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice. Read More

    Value of speckle tracking echocardiography for detection of clinically silent left ventricular dysfunction in patients with β-thalassemia.
    Hematology 2017 Apr 12:1-5. Epub 2017 Apr 12.
    e CMR Department, Rajaei Cardiovascular Medical and Research Center , Iran University of Medical Sciences , Tehran , Iran.
    Objective: β-Thalassemia is an inherited hemoglobin disorder resulting in chronic hemolytic anemia requiring chronic transfusion therapy. Cardiac involvement is the main cause of death in patients with thalassemia major. The narrow border is between overt myocardial dysfunction and clinically silent left ventricular (LV) dysfunction in patients with thalassemia. Read More

    Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence.
    Acta Haematol 2017 12;137(3):175-182. Epub 2017 Apr 12.
    Adult Thalassemia Unit, Second Department of Internal Medicine, Aristotle University of Thessaloniki, Ippokrateio General Hospital of Thessaloniki, Thessaloniki, Greece.
    Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. Read More

    A New Enzyme-Linked Immunosorbent Assay for a Total Anti-T Lymphocyte Globulin Determination: Development, Analytical Validation, and Clinical Applications.
    Ther Drug Monit 2017 Jun;39(3):282-289
    *Laboratorio di Farmacocinetica Clinica e Sperimentale, IRCCS Fondazione Policlinico San Matteo, Pavia; †Unità Operativa Centro Trapianti Midollo Osseo, Centro Regionale Trapianti, P. O. "R. Binaghi," Cagliari; ‡Unità Operativa di Immunoematologia Pediatrica, Ospedale San Raffaele, Milano; §Laboratorio di Immunologia e dei Trapianti, IRCCS Fondazione Policlinico San Matteo, Pavia; and ¶Dipartimento Onco-Ematologia Pediatrica e Medicina Trasfusionale, Ospedale Pediatrico Bambino Gesù, University of Pavia, Roma, Italy.
    Background: Anti-T lymphocyte globulin (ATLG) modulates the alloreactivity of T lymphocytes, reducing the risk of immunological posttransplant complications, in particular rejection and graft-versus-host disease, after allogeneic hematopoietic stem cell transplantation (HSCT). We developed and validated a new enzyme-linked immunosorbent assay (ELISA) method to measure serum levels of total ATLG and evaluate the pharmacokinetics (PK) of the drug in children with β-Thalassemia, receiving allogeneic HSCT.

    Methods: Diluted serum samples were incubated with Goat-anti-Rabbit IgG antibody coated on a microtiter plate and then, with Goat-anti-Human IgG labeled with horseradish peroxidase. Read More

    The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.
    Hemoglobin 2017 Jan 10;41(1):61-64. Epub 2017 Apr 10.
    g Genetic Research Laboratory, Rajaie Cardiovascular Medical and Research Center , Iran University of Medical Sciences , Tehran , Iran.
    β-Thalassemia (β-thal) caused by mutations on the HBB gene is the most common single-gene disorder in the world. In this study, the HBB gene mutation was investigated in Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted to the study. Read More

    A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
    Hemoglobin 2017 Jan 10;41(1):53-55. Epub 2017 Apr 10.
    a Azzociazione Nazionale per la lotta alla Microcitemia in Italia (ANMI) Onlus, Centro Studi Microcitemie Roma , Roma , Italia.
    We report a clinical update of the hemoglobin (Hb) variant [β27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c. Read More

    Attitudes and beliefs among high- and low-risk population groups towards β-thalassemia prevention: a cross-sectional descriptive study from India.
    J Community Genet 2017 Apr 6. Epub 2017 Apr 6.
    Department of Anthropology, University of Delhi, North Campus, Delhi, 110 007, India.
    β-thalassemia is an autosomal recessive blood disorder caused by gene mutations that affect all aspects of β-globin production. In majority of Asian countries including India, the frequency of β-thalassemia is closely intertwined with social, cultural, and religious issues of the respective country. Several national level screening programs imparted education regarding β-thalassemia, but follow-up evaluation revealed that education was not effective. Read More

    Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis.
    J Clin Lab Anal 2017 Apr 6. Epub 2017 Apr 6.
    Department of Laboratory Medicine, AZ Sint-Jan Hospital, Bruges, Belgium.
    Background: Four automated hemoglobin separation devices are compared in their ability to detect hemoglobinopathies, both in HbA1c and in hemoglobinopathy mode.

    Methods: Quality control material and 58 samples, including one heterozygous α-thalassemia sample, six heterozygote β-thalassemia samples and 32 samples with a known hemoglobin variant, were used to assess imprecision of HbF and HbA2 measurements, correlation with the gold standard and sensitivity for detecting β-thalassemia and Hb variants on D-100 (Bio-Rad Laboratories), HA 8180T (Menarini), HLC-723G8 (Tosoh Bioscience) and Capillarys 2 Flex Piercing (Sebia).

    Results: Imprecision was <10% for both HbF and HbA2 in all modes of all analyzers. Read More

    Investigation of mutations in the HBB gene using the 1,000 genomes database.
    PLoS One 2017 5;12(4):e0174637. Epub 2017 Apr 5.
    Laboratory of Human and Medical Genetics, Institute of Biological Sciences, Federal University of Pará, Belém, PA, Brazil.
    Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia. Sickle cell anemia is one of the most common monogenic diseases worldwide. Due to its prevalence, diverse strategies have been developed for a better understanding of its molecular mechanisms. Read More

    Gene Therapy for β-Hemoglobinopathies.
    Mol Ther 2017 May 1;25(5):1142-1154. Epub 2017 Apr 1.
    Paris Descartes, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; INSERM UMR 1163, Laboratory of Chromatin and Gene Regulation, 75015 Paris, France. Electronic address:
    β-Thalassemia and sickle cell disease (SCD) are the world's two most widely disseminated hereditary hemoglobinopathies. β-Thalassemia originated in the Mediterranean, Middle Eastern, and Asian regions, and SCD originated in central Africa. However, subsequent population migration means that these two diseases are now global and thus constitute a growing health problem in many countries. Read More

    Multiple immune disorders after natalizumab discontinuation: After the CIRIS, the SIRIS?
    Rev Neurol (Paris) 2017 Apr 31;173(4):222-224. Epub 2017 Mar 31.
    Service de neurologie, hôpital Pasteur 2, centre hospitalier universitaire de Nice, 30, voie Romaine, 06000 Nice cedex 1, France.
    Natalizumab (NTZ) is an effective treatment for patients with highly active relapsing remitting multiple sclerosis (MS). However, when the therapy must be interrupted, it is important to anticipate the withdrawal to avoid reactivation or disease rebound. Described here is the case of a 35-year-old woman, with a past history of beta thalassemia, bulimia and asthma, who was diagnosed with MS at age 26. Read More

    Insulin Secretion and Resistance in Normoglycemic Patients with Sickle Cell Disease.
    Hemoglobin 2017 Jan 3;41(1):6-11. Epub 2017 Apr 3.
    b Hypertention Excellence center, 1st Department of Internal Medicine , AHEPA University Hospital, Aristotle University of Thessaloniki (AUTH) , Thessaloniki , Greece.
    Diabetes mellitus has been described in chronic hemolytic anemias, but data are scarce regarding glucose metabolism in normoglycemic patients. To address this issue, we evaluated insulin sensitivity and secretion in patients with sickle cell disease (SCD) and normal oral glucose tolerance test (OGTT). Forty-five adult patients with homozygous sickle cell disease and Hb S/β-thalassemia (β-thal) (mean age 42. Read More

    Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?
    Ann Hum Genet 2017 May 31;81(3):125-128. Epub 2017 Mar 31.
    Department of Haematogenetics, National Institute of Immunohaematology (ICMR), Parel, Mumbai, India.
    The Kruppel-like factor 1 (KLF1) gene is an essential transcription factor that is required for the proper maturation of the erythroid cells. Recent studies have reported that KLF1 variations are associated with increased fetal hemoglobin (HbF) levels. Here we report a novel KLF1 gene variation codon 211 A→G (c. Read More

    Prevalence of Anemia and Hemoglobin Disorders Among School Children in Myanmar.
    Hemoglobin 2017 Jan 2;41(1):26-31. Epub 2017 Apr 2.
    a Department of Clinical Microscopy, Faculty of Medical Technology , Mahidol University , Bangkok , Thailand.
    The prevalence of anemia is high in the population of Myanmar and hypochromic microcytic anemia (HMA) is predominant. The objective of our study was to determine the prevalence of anemia and causes of HMA among school children. A cross-sectional study was conducted on 239 children from Thanlyin and Insein Townships, Yangon Region, Myanmar. Read More

    Favorable Pulse Wave Augmentation Indices and Left Ventricular Diastolic Profile in β-Thalassemia Minor.
    Angiology 2017 Jan 1:3319717701658. Epub 2017 Jan 1.
    1 Department of Cardiology, Larissa University Hospital, Larissa, Greece.
    β-Thalassemia minor (β-Τm) is associated with rheological and biochemical alterations that can affect cardiovascular function. We aimed to evaluate the elastic arterial properties and the pulse wave augmentation indices in a population of patients with β-Τm. Seventy-five individuals with β-Τm (age 55. Read More

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