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    Enhancement of β-Globin Gene Expression in Thalassemic IVS2-654 Induced Pluripotent Stem Cell-Derived Erythroid Cells by Modified U7 snRNA.
    Stem Cells Transl Med 2017 Feb 18. Epub 2017 Feb 18.
    Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    The therapeutic use of patient-specific induced pluripotent stem cells (iPSCs) is emerging as a potential treatment of β-thalassemia. Ideally, patient-specific iPSCs would be genetically corrected by various approaches to treat β-thalassemia including lentiviral gene transfer, lentivirus-delivered shRNA, and gene editing. These corrected iPSCs would be subsequently differentiated into hematopoietic stem cells and transplanted back into the same patient. Read More

    Evaluation of macular vascular abnormalities identified by optical coherence tomography angiography in sickle cell disease.
    Am J Ophthalmol 2017 Feb 14. Epub 2017 Feb 14.
    Retina Division, Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland. Electronic address:
    Purpose: To evaluate macular vascular flow abnormalities identified by optical coherence tomography angiography (OCT-A) in patients with various sickle cell genotypes.

    Design: Prospective, observational case series.

    Methods: This is a single institution case series of adult patients with various sickle cell genotypes. Read More

    Liver transplantation from a deceased donor with β-thalassemia intermedia is not contraindicated: A case report.
    Pediatr Transplant 2017 Feb 17. Epub 2017 Feb 17.
    Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
    The use of extended criteria donors who might have previously been deemed unsuitable is an option to increase the organ supply for transplantation. This report presents a pediatric case of a successful liver transplantation from a donor with β-thalassemia intermedia. A patient, 6-year-old female, with a diagnosis of cryptogenic liver cirrhosis underwent deceased donor liver transplantation from a thalassemic donor. Read More

    The Effects of Nutrition, Exercise, and a Praying Program on Reducing Iron Overload in Patients With Beta-Thalassemia Major: A Randomized Clinical Trial.
    Iran J Pediatr 2016 Oct 1;26(5):e3869. Epub 2016 Jun 1.
    Department of Biostatistics, Shiraz University of Medical Sciences, Shiraz, IR Iran.
    Background: Excessive iron accumulation in the visceral organs creates problems for patients with beta-thalassemia major. Despite chelation therapy, mortality rate from the complications of this disease is still quite high.

    Objectives: This study aimed to investigate the effectiveness of nutrition, exercise, and a praying program at reducing iron overload in patients with beta-thalassemia major. Read More

    β-Thalassemia Patients Revealed a Significant Change of Untargeted Metabolites in Comparison to Healthy Individuals.
    Sci Rep 2017 Feb 13;7:42249. Epub 2017 Feb 13.
    H.E.J. Research Institute of Chemistry, International Center for Chemical and Biological Sciences, University of Karachi, Karachi-75270, Pakistan.
    β-Thalassemia is one of the most prevalent forms of congenital blood disorders characterized by reduced hemoglobin levels with severe complications, affecting all dimensions of life. The mechanisms underlying the phenotypic heterogeneity of β-thalassemia are still poorly understood. We aimed to work over metabolite biomarkers to improve mechanistic understanding of phenotypic heterogeneity and hence better management of disorder at different levels. Read More

    Lentiviral Transfer of γ-Globin with Fusion Gene NUP98-HOXA10HD Expands Hematopoietic Stem Cells and Ameliorates Murine β-Thalassemia.
    Mol Ther 2017 Feb 9. Epub 2017 Feb 9.
    Division of Experimental Hematology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
    Recently, an engineered Homeobox-nucleoporin fusion gene, NUP98-HOXA10HD or NA10HD, was reported to expand and maintain murine hematopoietic stem cells (HSCs). We postulated that NA10HD would increase the number of human γ-globin-expressing cells to therapeutic levels. We developed a double gene lentiviral vector encoding both human γ-globin and NA10HD, which was used to transduce human peripheral blood CD34(+) cells and increased engraftment 2- to 2. Read More

    Evaluation of five discriminating indexes to distinguish Beta-Thalassemia Trait from Iron Deficiency Anaemia.
    J Pak Med Assoc 2016 Dec;66(12):1627-1631
    Department of Pathology, Gomal Medical College, Dera Ismail Khan, Pakistan.
    Objective: To assess the reliability of different red blood cell indices-based formulae in the indexes formula in differential diagnosis of beta thalassemia trait and iron deficiency anaemia.

    Methods: This cross-sectional study was conducted between January and October 2015 in Dera Ismail Khan in the Khyber Pakhtunkhwa province of Pakistan. Patients of beta thalassemia trait and iron deficiency anaemia were registered irrespective of age and gender. Read More

    Circulating microparticles and the risk of thromboembolic events in Egyptian beta thalassemia patients.
    Ann Hematol 2017 Feb 7. Epub 2017 Feb 7.
    Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
    The presence of elevated numbers of circulating microparticles (MPs) has been hypothesized to be responsible for the occurrence of thromboembolic events (TEEs) in thalassemic patients. Our aim is to evaluate the presence and the thrombotic risk of circulating MPs in thalassemia patients and to determine the difference in MPs between β-thalassemia major (β-TM) and thalassemia intermedia (TI). The percentage of the annexin-labeled MPs, platelet-derived MPs (PMPs), erythrocyte-derived MPs (RMPs), and endothelial-derived MPs (EMPs) was measured by flow cytometry, in 87 thalassemia patients (39 β-TM and 48 TI). Read More

    The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.
    Blood Cells Mol Dis 2017 Jan 25;63:52-57. Epub 2017 Jan 25.
    Guangxi birth defects prevention and Control Research Institute, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, PR China.. Electronic address:
    Four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) associated with HbF levels have been identified in different populations worldwide. To explore whether these SNPs modulate HbF expression in Chinese Zhuang population, 436 Chinese Zhuang β-thalassemia intermedia (β-TI) patients were divided into high HbF level group (mean HbF=25.5%, n=218) and low group (mean HbF=6. Read More

    Heterochromatin Protein 1γ Is a Novel Epigenetic Repressor of Human Embryonic ϵ-Globin Gene Expression.
    J Biol Chem 2017 Feb 1. Epub 2017 Feb 1.
    Nanjing University, China
    Production of hemoglobin during development is tightly regulated. For example, expression from the human β-globin gene locus, comprising β-, δ-, ϵ-, and γ-globin genes, switches from ϵ-globin to γ-globin during embryonic development and then from γ-globin to β-globin after birth. Expression of human ϵ-globin in mice has been shown to ameliorate anemia caused by β-globin mutations, including those causing β-thalassemia and sickle cell disease (SCD), raising the prospect that reactivation of ϵ-globin expression could be used in managing these conditions in humans. Read More

    Decreasing TfR1 expression reverses anemia and hepcidin suppression in β-thalassemic mice.
    Blood 2017 02 1. Epub 2017 Feb 1.
    Hunan Key Laboratory of Carcinogenesis and Cancer Invasion, Cancer Research Institute, Central South University, Ministry of Education, Changsha, China.
    Iron availability for erythropoiesis and its dysregulation in β-thalassemia are incompletely understood. We previously demonstrated that exogenous apo-transferrin leads to more effective erythropoiesis, decreasing erythroferrone and de-repressing hepcidin in β-thalassemic mice. Transferrin-bound iron binding to transferrin receptor 1 (TfR1) is essential for cellular iron delivery during erythropoiesis. Read More

    Craniofacial Characteristics of Thalassemia Major Patients.
    Eurasian J Med 2016 Oct;48(3):204-208
    Department of Genetic, Dicle University School of Medicine, Diyarbakır, Turkey.
    Objective: Thalassemias major are the most common autosomal recessive disorders; they are characterized by anomalies in the synthesis of the beta chains of hemoglobin and are often associated with varying degrees of craniofacial anomalies. The purpose of this study was to evaluate the craniofacial dimensions of β-thalassemia patients and to identify differences by comparing them to those of a control group.

    Materials And Methods: The study comprised 43 thalassemia major patients and 26 age- and sex- matched healthy control subjects. Read More

    Using Red Cell Indices and Reticulocyte Parameters for Carrier Screening of Various Thalassemia Syndromes.
    Indian J Clin Biochem 2017 Mar 9;32(1):61-67. Epub 2016 May 9.
    0000 0000 9211 2704grid.412029.cChronic Diseases Research Unit, Department of Medical Technology, Faculty of Allied Health Sciences, Naresuan University, Phitsanulok, 65000 Thailand.
    Primary screening for thalassemia carriers usually involves an accurate blood count using an automated blood cell analyzer. We analyzed the red cell and reticulocyte parameters from 200 samples of various types of thalassemias and identified the discrimination criteria for differential diagnosis. These were separated into four groups based on genotypes. Read More

    Deferasirox-Iron Complex Formation Ratio as an Indicator of Long-term Chelation Efficacy in β-Thalassemia Major.
    Ther Drug Monit 2017 Jan 30. Epub 2017 Jan 30.
    1Division of Haematology/Oncology, Department of Paediatrics, National Taiwan University Hospital, Taipei, Taiwan 2Department of Clinical Pharmacy, School of Pharmacy, College of Pharmacy, Taipei Medical University.
    Background: β-Thalassemia major patients with higher total drug levels (deferasirox [DEFR] plus its iron complex) do not yield better serum ferritin (SF) control. This study aimed to determine the concentrations of DEFR and its iron complex (Fe-[DEFR]2) in thalassemia patients to predict the chelation efficacy in terms of SF and cardiac T2* values.

    Methods: Patients' steady-state drug levels at trough (Ctrough) and 2 hours post-dose (C2h) were determined. Read More

    Assessment of left ventricular functions and myocardial iron load with tissue Doppler and speckle tracking echocardiography and T2* MRI in patients with β-thalassemia major.
    Echocardiography 2017 Jan 31. Epub 2017 Jan 31.
    Department of Pediatric Hematology, Ankara Children's Hematology and Oncology Research and Training Hospital, Ankara, Turkey.
    Background: The purpose of this study is to determine early myocardial dysfunction in β-thalassemia major (BTM) patients. Where the myocardial dysfunction cannot be detected by conventional echocardiography, it could be detected by tissue Doppler imaging (TDI) or speckle tracking echocardiography (STE).

    Methods: In this study, we analyzed 60 individuals, 30 of whom were BTM patients and the other 30 of whom were the control group. Read More

    Characterization of Putative Erythroid Regulators of Hepcidin in Mouse Models of Anemia.
    PLoS One 2017 30;12(1):e0171054. Epub 2017 Jan 30.
    Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
    Iron is crucial for many biological functions, but quantitatively the most important use of iron is in the production of hemoglobin in red blood cell precursors. The amount of iron in the plasma, and hence its availability for hemoglobin synthesis, is determined by the liver-derived iron regulatory hormone hepcidin. When the iron supply to erythroid precursors is limited, as often occurs during stimulated erythropoiesis, these cells produce signals to inhibit hepatic hepcidin production, thereby increasing the amount of iron that enters the plasma. Read More

    [THE PHENOTYPIC MANIFESTATIONS OF THALASSEMIC MUTATIONS IN AZERBAIJAN].
    Georgian Med News 2016 Dec(261):74-80
    Institute of Hematology and Transfusiology, Baku, Azerbaijan.
    The aim of this study was to investigate the phenotypic expression of the most common β-globin gene mutations - Codon 8 (-AA), IVS 1.6 and IVS 2.1 in heterozygous, homozygous and compound with HbS in Azerbaijan. Read More

    Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.
    Genet Med 2017 Jan 26. Epub 2017 Jan 26.
    Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
    Purpose: Thalassemia is one of the most common monogenic diseases in southwestern China, especially among the Dai ethnic group. Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people.

    Methods: Blood samples were obtained from Dai people for premarital screening. Read More

    Relationship Between Some Single-nucleotide Polymorphism and Response to Hydroxyurea Therapy in Iranian Patients With β-Thalassemia Intermedia.
    J Pediatr Hematol Oncol 2017 Jan 24. Epub 2017 Jan 24.
    *Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran †Shahid Beheshti University of Medical Sciences, Tehran ‡Clinical Pharmacy Department, Faculty of Pharmacy, Shiraz University of Medical Sciences, Shiraz §Clinical Biochemistry Department of Biology Faculty of Sciences, University of Zabol, Zabol, Iran.
    Objective: To evaluate the possible relationship between hydroxyurea (HU) response and some single-nucleotide polymorphism (SNP) in patients affected by β-thalassemia intermedia.

    Materials And Methods: In this cross-sectional study, 100 β-thalassemia intermedia patients who were taking HU with a dose of 8 to 15 mg/kg body weight per day for a period of at least 6 months were randomly selected between February 2013 and October 2014 in southern Iran. HU response was defined based on decrease or cessation of the blood transfusion need and evaluation of Hb level. Read More

    Genotype - Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population.
    Turk J Haematol 2017 Jan 25. Epub 2017 Jan 25.
    Objective: β-Thalassemia is the most common inherited disorder in Azerbaijan. The aim of our study was to reveal genotype-to-phenotype correlations of the most common β-thalassemia mutations in Azerbaijani population. Patients with Codon 8 (-AA), IVS-I-6 (T>C) and IVS-II-1 (G>A) mutations, which are reportedly the most common β-globin gene mutations among local population were tested for hematologic parameters. Read More

    Total Antioxidant Capacity in beta-thalassemia: A systematic review and meta-analysis of case-control studies.
    Crit Rev Oncol Hematol 2017 Feb 8;110:35-42. Epub 2016 Dec 8.
    Center of Nutrition, Council for Agricultural Research and Economics (CREA-NUT), Rome, Italy. Electronic address:
    Total Antioxidant Capacity (TAC), a biomarker measuring the antioxidant potential of body fluids, including redox synergistic interactions, is influenced by the presence of products of catabolism such as bilirubin (BR) and uric acid (UA). Hyperuricaemia and increased BR levels were observed in thalassemia. In order to evaluate the differences in TAC values between thalassemic patients and healthy subjects, we performed a systematic review and meta-analysis of case-control studies. Read More

    Utilizing a Novel Mobile Health "Selfie" Application to Improve Compliance to Iron Chelation in Pediatric Patients Receiving Chronic Transfusions.
    J Pediatr Hematol Oncol 2017 Jan 17. Epub 2017 Jan 17.
    *Department of Pediatrics, Duke University Medical Center †Department of Psychology and Neuroscience, Duke University, Durham, NC ‡School of Medicine, University of Pittsburgh, Pittsburgh, PA.
    Iron chelation therapy can prevent iron overload for pediatric patients with sickle cell disease and β-thalassemia major; however, adherence is suboptimal. Therefore, we developed an intensive training program (ITP), to improve medication management and disease knowledge. The objectives were to determine feasibility of the ITP and its preliminary impact on adherence, disease knowledge, and health outcomes. Read More

    First reported case of Haemoglobin-M Hyde Park in a Malay family living in Malaysia.
    EXCLI J 2016 7;15:630-635. Epub 2016 Nov 7.
    Department of Pathology, UKM Medical Centre, Malaysia.
    Haemoglobin (Hb)-M Hyde Park, also known as Hb-M Akita is a rare type of hereditary Hb M due to autosomal dominant mutation of CAC>TAC on codon 92 of β globin gene resulting in the replacement of histidine by tyrosine on β globin chain. This variant Hb has a tendency to form methaemoglobin (metHb). The iron ion in metHb is oxidized to ferric (Fe3+) which is unable to carry oxygen and the patients manifest as cyanosis clinically. Read More

    Regulation of the Iron Homeostatic Hormone Hepcidin.
    Adv Nutr 2017 Jan 17;8(1):126-136. Epub 2017 Jan 17.
    Center for Iron Disorders, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA
    Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Read More

    Suitability of small diagnostic peripheral-blood samples for cell-therapy studies.
    Cytotherapy 2017 Feb;19(2):311-326
    Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
    Background Aims: Primary hematopoietic stem and progenitor cells (HSPCs) are key components of cell-based therapies for blood disorders and are thus the authentic substrate for related research. We propose that ubiquitous small-volume diagnostic samples represent a readily available and as yet untapped resource of primary patient-derived cells for cell- and gene-therapy studies.

    Methods: In the present study we compare isolation and storage methods for HSPCs from normal and thalassemic small-volume blood samples, considering genotype, density-gradient versus lysis-based cell isolation and cryostorage media with different serum contents. Read More

    Klf10 Gene, a Secondary Modifier and a Pharmacogenomic Biomarker of Hydroxyurea Treatment Among Patients With Hemoglobinopathies.
    J Pediatr Hematol Oncol 2017 Jan 12. Epub 2017 Jan 12.
    *Thalassemia Center †Molecular Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
    Background: The klf10 gene could indirectly modify γ-globin chain production and hence the level of fetal hemoglobin (HbF) ameliorating the phenotype of β-hemoglobinopathies and the response to hydroxycarbamide (hydroxyurea [HU]) therapy. In this study, we aimed to evaluate the frequency of different genotypes for the klf10 gene in β-thalassemia major (B-TM), β-thalassemia intermedia (B-TI), and sickle cell disease (SCD) patients by polymerase chain reaction and to assess its relation to disease phenotypes and HU response.

    Methods: This cross-sectional study included 75 patients: 50 B-TM, 12 SCD, and 13 B-TI patients (on stable HU dose). Read More

    Gene Therapy in Fanconi anemia: a matter of time, safety and gene transfer tool efficiency.
    Curr Gene Ther 2017 01 9. Epub 2017 Jan 9.
    Division of Hematopoietic Innovative Therapies, CIEMAT/ CIBERER-ISC-III. Madrid, Spain.
    Fanconi anemia (FA) is a rare genetic syndrome characterized by progressive marrow failure. Gene therapy by infusion of FA-corrected autologous hematopoietic stem cells (HSCs) may offer a potential cure since it is a monogenetic disease with mutations in the FANC genes, coding for DNA repair enzymes (See review[1]). However, the collection of hCD34 +-cells in FA patients implies particular challenges because of the reduced numbers of progenitor cells present in their bone marrow (BM)[2] or mobilized peripheral blood[3-5]. Read More

    Excellent and durable response to radiotherapy in a rare case of spinal cord compression due to extra-medullary hematopoiesis in β-thalassemia intermedia: case report and clinicoradiological correlation.
    Ann Palliat Med 2016 Dec 9. Epub 2016 Dec 9.
    Department of Radiotherapy and Oncology, Kasturba Medical College and Hospital, Manipal University, Manipal, Karnataka 576104, India.
    Spinal cord compression (SCC) is an unusual sequale of extra-medullary hematopoiesis (EMH). We report a patient diagnosed with β-thalassemia intermedia at the age of 7 years presenting as a 24-year-old with symptoms suggestive of paraparesis. MR imaging revealed long masses of EMH opposite T5-T11 and L5-S2 vertebrae with cord compression at T6 vertebrae. Read More

    The Sickle β-Thalassemia Phenotype.
    J Pediatr Hematol Oncol 2017 Jan 5. Epub 2017 Jan 5.
    *Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat †Pediatric Hematology Unit, Mubarak Al-Kabeer Hospital, Jabriya ‡Advanced Technology Company, Salmiya, Kuwait.
    Sβ-thalassemia (Sβ-thal) is common among Gulf Arab patients with sickle cell disease, but the phenotype of this group had not been well-documented. We have studied a group of Kuwaiti patients and compared the phenotype in the homozygotes (SS) and Sβ-thal patients. Complete blood count, hemoglobin quantitation, serum bilirubin, and lactate dehydrogenase were determined with standard techniques. Read More

    Assessing posterior ocular structures in β-thalassemia minor.
    Int Ophthalmol 2017 Jan 4. Epub 2017 Jan 4.
    Department of Ophthalmology, Kayseri Education and Research Hospital, Sanayi Mah. Atatürk Boulevard Hastane Street No: 78, 38010, Kayseri, Turkey.
    Purpose: The aim of this study was to investigate the effect of β-thalassemia minor on choroidal, macular, and peripapillary retinal nerve fiber layer thickness.

    Methods: To form the sample, we recruited 40 patients with β-thalassemia minor and 44 healthy participants. We used spectral-domain optical coherence tomography to take all measurements of ocular thickness, as well as measured intraocular pressure, axial length, and central corneal thickness. Read More

    EPO and hepcidin plasma concentrations in blood donors and β-thalassemia intermedia are not related to commercially tested plasma ERFE concentrations.
    Am J Hematol 2017 Mar;92(3):E29-E31
    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud university medical center, Nijmegen, the Netherlands.

    Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis.
    Malays J Pathol 2016 Dec;38(3):235-239
    Universiti Teknologi MARA (UiTM), Faculty of Medicine, Sg Buloh Campus, Malaysia.
    Background: Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ β-thalassemia. Read More

    [Value of Analyzing Hemoglobin A2 by ROC Curve for Screening Thalassemia].
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 2016 Dec;24(6):1828-1832
    Medical Genetics Center, Key Laboratory of Metabolic and Genetic Diseases of Women and Children,Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China. E-mail:
    Objective: To investigate the value of hemoglobin A2(HbA2) for screening thalassemia.

    Methods: A total of 2 000 adults' peripheral blood samples from Guangdong Women and Children Hospital from June 2013 to January 2014 were collected. The hemoglobin A2 (HbA2) level was analyzed by the full automatic capillary electrophoresis technique, and the genotypes of thalassemia were detected. Read More

    Severe cardiac iron toxicity in two adults with sickle cell disease.
    Transfusion 2016 Dec 26. Epub 2016 Dec 26.
    Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland.
    Background: Use of chronic blood transfusions as a treatment modality in patients with blood disorders places them at risk for iron overload. Since patients with β-thalassemia major (TM) are transfusion-dependent, most studies on iron overload and chelation have been conducted in this population. While available data suggest that compared to TM, patients with sickle cell disease (SCD) have a lower risk of extrahepatic iron overload, significant iron overload can develop. Read More

    Prosthetic hip infection with Edwardsiella tarda in sickle cell beta thalassemia disease: A case report.
    J Clin Orthop Trauma 2016 Oct-Dec;7(Suppl 1):130-133. Epub 2016 Jun 9.
    Department of Orthopaedic Surgery and Rehabilitation Medicine, SUNY Downstate Medical Center/University Hospital Brooklyn, Brooklyn, NY, United States.
    Periprosthetic infection following total hip arthroplasty is a devastating complication that has been reported to occur in up to 1.6% of all primary total hip arthroplasties. We report a previously unrecognized gram-negative bacillus as the infecting agent in a patient with bilateral total hip arthroplasties for stage IV osteonecrosis. Read More

    A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots.
    J Proteomics 2017 Feb 20;154:78-84. Epub 2016 Dec 20.
    Center for Clinical Molecular Medicine, Children's Hospital of Chongqing Medical University, Chongqing 400014, China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China; Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China; Key Laboratory of Pediatrics in Chongqing, Chongqing 400014, China. Electronic address:
    Traditional methods for thalassemia screening are time-consuming and easily affected by cell hemolysis or hemoglobin degradation in stored blood samples. Tandem mass spectrometry (MS/MS) proved to be an effective technology for sickle cell disorders (SCD) screening. Here, we developed a novel MS/MS method for β-thalassemia screening from dried blood spots (DBS). Read More

    Fortified Snack Reduced Anemia in Rural School-Aged Children of Haiti: A Cluster-Randomized, Controlled Trial.
    PLoS One 2016 22;11(12):e0168121. Epub 2016 Dec 22.
    Meds & Food for Kids, St. Louis, Missouri, United States of America.
    Background: Nutrition in the school-aged child matters for brain development and public policy investments globally. Our group previously conducted a trial in urban schools of Haiti to examine the effects of a fortified peanut butter snack, Vita Mamba, with limited findings for anemia.

    Objective: We aimed to test the hypothesis that Vita Mamba, with systematic deworming in both study arms, would significantly reduce anemia among rural, school-aged children. Read More

    Heart failure in haemoglobinopathies: pathophysiology, clinical phenotypes, and management.
    Eur J Heart Fail 2016 Dec 20. Epub 2016 Dec 20.
    Heart Failure Unit, Department of Cardiology, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
    Hereditary haemoglobinopathies, mainly beta-thalassemia and sickle cell disease, constitute the most common monogenic disorders in humans, and although once geographically confined, they are currently globally distributed. They are demanding clinical entities that require multidisciplinary medical management. Despite their genotypic and phenotypic heterogeneity, the haemoglobinopathies share several similarities in pathophysiology, clinical manifestations, therapeutic requirements, and complications, among which heart failure (HF) represents a leading cause of mortality and morbidity. Read More

    EFFECTS OF HOME-CARE TRAINING ON THE SELF-EFFICACY OF PATIENTS WITH BETA THALASSEMIA MAJOR.
    Mater Sociomed 2016 Oct 17;28(5):357-360. Epub 2016 Oct 17.
    Student Research Committee, Faculty of Nursing and Midwifery, Zabol University of Medical Sciences, Zabol, Iran.
    Background: The self-efficacy of thalassemia patients is an important factor in creating behavioral changes in such patients. Home-care training reduces hospitalization duration as well as relevant costs and improves disease outcomes. This study was designed to assess the effect of home-care training on the self-efficacy of patients with beta thalassemia major. Read More

    [Nosocomial septicemia in the early stage after stem cell transplantation in children with major β-thalassemia].
    Nan Fang Yi Ke Da Xue Xue Bao 2016 Dec;36(12):1689-1693
    Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. E-mail:
    Objective: To explore the clinical characteristics of nosocomial septicemia in the early stage after hematopoietic stem cell transplantation (HSCT) in children with major β-thalassemia.

    Methods: The clinical data were retrospectively analyzed of 55 consecutive children with major β-thalassemia who developed septicemia early after HSCT between January, 2011 and June, 2016.

    Results: Among the total of 416 consecutive children with major β-thalassemia undergoing allogeneic HSCT, the incidence of nosocomial infection early after transplantation was 77. Read More

    Na(+)/H(+) exchanger 3 inhibitor diminishes hepcidin-enhanced duodenal calcium transport in hemizygous β-globin knockout thalassemic mice.
    Mol Cell Biochem 2017 Mar 19;427(1-2):201-208. Epub 2016 Dec 19.
    Center of Calcium and Bone Research (COCAB), Faculty of Science, Mahidol University, Bangkok, Thailand.
    Recent investigation has shown that the liver-derived iron-regulating hormone, hepcidin, can potentiate intestinal calcium absorption in hemizygous β-globin knockout thalassemic (BKO) mice. Since the upregulation of Fe(2+) and H(+) cotransporter, divalent metal transporter (DMT)-1, has been shown to correlate with thalassemia-induced intestinal calcium absorption impairment, the inhibition of the apical Na(+)/H(+) exchanger (NHE)-3 that is essential for cytoplasmic pH regulation and transepithelial sodium absorption was hypothesized to negatively affect hepcidin action. Herein, the positive effect of hepcidin on the duodenal calcium transport was evaluated using Ussing chamber technique. Read More

    Poor stem cell harvest may not always be related to poor mobilization: lessons gained from a mobilization study in patients with β-thalassemia major.
    Transfusion 2016 Dec 17. Epub 2016 Dec 17.
    Gene and Cell Therapy Center, Hematology Department-Bone Marrow Transplant Unit.
    Background: Hematopoietic stem cell mobilization and leukapheresis in adult patients with β-thalassemia have recently been optimized in the context of clinical trials for obtaining hematopoietic stem cells for thalassemia gene therapy. In some patients, however, the yield of cluster of differentiation 34-positive (CD34+) cells was poor despite successful mobilization, and a modification of apheresis settings was mandatory for harvest rescue.

    Study Design And Methods: Data were analyzed from 20 adult patients with β-thalassemia who were enrolled in a clinical trial of optimizing mobilization strategies for stem cell gene therapy. Read More

    Frequencies and phenotypic consequences of association of α- and β-thalassemia alleles with sickle-cell disease in Bahrain.
    Int J Lab Hematol 2017 Feb 16;39(1):76-83. Epub 2016 Dec 16.
    Department of Internal Medicine, Salmaniya Medical Complex, Manama, Kingdom of Bahrain.
    Introduction: Bahrain has high prevalence rates of sickle cell and thalassemia in the population. This study reports the frequencies and phenotypic characteristics of α- and/or β-thalassemia associated with sickle-cell disease (SCD) in a tertiary care hospital.

    Methods: Adult SCD patients (n = 200) were screened for the common α- and β-thalassemia alleles prevalent in the region using molecular techniques. Read More

    Diagnosis of common hemoglobinopathies among South East Asian population using capillary isoelectric focusing system.
    Int J Lab Hematol 2017 Feb 16;39(1):101-111. Epub 2016 Dec 16.
    Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
    Introduction: We have evaluated an automated capillary isoelectric focusing (cIEF)-based Hb analyzer in diagnosis of hemoglobinopathies commonly found among South East Asian population.

    Methods: Study was performed on a cohort of 665 adult Thai subjects and 13 fetal blood specimens obtained at routine thalassemia diagnostic laboratory. Hb analysis was performed using the cIEF system. Read More

    [Neonatal expression of beta-thalassemia trait associated with hereditary spherocytosis in two monozygotic twins].
    Arch Pediatr 2017 Feb 12;24(2):126-130. Epub 2016 Dec 12.
    Service de pédiatrie et de néonatologie, hôpital universitaire Tahar Sfar, 5111 Mahdia, Tunisie.
    The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. Read More

    [Sickle cell syndrome. Association between hemoglobin S and β thalassemia].
    Medicina (B Aires) 2016 ;76(6):369-372
    Cátedras de Hematología Clínica y Bioquímica, Clínica II, Departamento de Biología, Bioquímica y Farmacia, Universidad Nacional del Sur, Bahía Blanca, Buenos Aires, Argentina. E-mail:
    Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS) and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. Read More

    Transcranial Doppler in hemoglobin SC disease.
    Pediatr Blood Cancer 2016 Dec 13. Epub 2016 Dec 13.
    Centro de Pesquisas Gonçalo Moniz, Fundação Oswaldo Cruz, Bahia, Brazil.
    Background: Stroke is a severe clinical disorder in sickle cell disease (SCD), and few studies have evaluated transcranial Doppler (TCD) flow velocities in hemoglobin SC disease (HbSC). The guidelines for stroke risk are based on evaluations in sickle cell anemia (SCA) or HbS/β thalassemia.

    Procedure: In this study, we compare cerebral blood flow in patients with SCD stratified by genotypes. Read More

    Could Heterozygous Beta Thalassemia Provide Protection Against Multiple Sclerosis?
    Med Sci Monit 2016 Dec 11;22:4854-4858. Epub 2016 Dec 11.
    Department of Biostatistics, Bezmialem Vakif University, Medical Faculty, Istanbul, Turkey.
    BACKGROUND Heterozygous beta thalassemia (HBT) has been proposed to increase the risk of developing autoimmune disease. Our aim in this study was to examine the prevalence of HBT among multiple sclerosis (MS) patients. MATERIAL AND METHODS HBT frequency was investigated in our MS group (243 patients with MS). Read More

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